Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RNF213_chr17_80255852_80403794	80313797	ATGGTGGA others(245): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGT ACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGA TGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATG GTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAA GGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGG AGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18969.hp2 NA21309.hp1 HG02976.hp2 NA18969.hp2 NA21309.hp1	a0003 a0040 a0102 a0003 a0040 a0102	a0003c0005 a0040c0104 a0102c0128 a0003c0005 a0040c0104 a0102c0128	a0003c0005t0011 a0040c0104t0008 a0102c0128t0008 a0003c0005t0011 a0040c0104t0008 a0102c0128t0008	a0003c0005t0011g0253 a0040c0104t0008g0023 a0102c0128t0008g0168 a0003c0005t0011g0253 a0040c0104t0008g0023 a0102c0128t0008g0168	3	292	0.0103	-252	c.281 others(17): Show c.2811+741_2811+992del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	273190	GAGAGACC others(245): Show GAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAGGGCGAC GTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAG GGTGACGTCAGGGAGAGACCCCAGCGAGGGTGATGTCAGGGAGAGACCCC AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGA GACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCGGCGAGGGCGACGTCA GGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02135.hp1 HG02135.hp2 others(2): Show HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02559.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0008t0001	a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0003t0001g0068 others(2): Show a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0003t0001g0068 a0001c0004t0001g0046 a0001c0008t0001g0044	5	133	0.0376	-252	c.438 others(17): Show c.438+8326_438+8577del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744061	CTACTAGC others(245): Show CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp2 HG01071.hp2 HG01496.hp2	a0001 a0001	a0001c0010 a0001c0043 a0001c0010 a0001c0043	a0001c0010t0009 a0001c0043t0008 a0001c0010t0009 a0001c0043t0008	a0001c0010t0009g0058 a0001c0043t0008g0176 a0001c0010t0009g0058 a0001c0043t0008g0176	2	196	0.0102	-252	c.655 others(17): Show c.655-9939_655-9688del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80840922	ACACGGCA others(245): Show ACACGGCAGCTCACTCTCTCTGCACCGCAGCTCACACTCACCGCACGGCA GCTCACATTCACCACACGGCAACTCACTCTCACCACACGGCAGCTCACTC TCTCTGCACCGCAGCTCACACTCACCGCACGGCAGCTCACATTCACCACA CGGCAACTCACTCTCACCACACGGCAGCTCACTCTCTCTGCACCGCAGCT CACACTCACCGCACGGCAGCTCACTCTCACCGCACGGCAGCTCACTCTCA CCG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0062 a0002c0062	a0002c0062t0018 a0002c0062t0018	a0002c0062t0018g0191 a0002c0062t0018g0191	1	196	0.0051	-252	c.121 others(19): Show c.1212+2939_1212+3190del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	933961	TGCTCCGT others(245): Show TGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGG GGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTG GGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTA CAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCT GCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp2 NA19043.hp1 HG02886.hp2 HG03225.hp2 NA19043.hp1	a0005 a0016 a0005 a0016	a0005c0007 a0016c0028 a0005c0007 a0016c0028	a0005c0007t0008 a0005c0007t0022 a0016c0028t0008 a0005c0007t0008 a0005c0007t0022 a0016c0028t0008	a0005c0007t0008g0280 a0005c0007t0022g0283 a0016c0028t0008g0268 a0005c0007t0008g0280 a0005c0007t0022g0283 a0016c0028t0008g0268	3	434	0.0069	-252	c.843 others(17): Show c.843-1779_843-1528del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCML4_chr6_107697154_107829313	107783440	GCCTGATG others(245): Show GCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCT GAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGC TGGTCTGAGTTTGCCTGATGGGAGGAGCTGGTCTGAGTTTGCCTGATGGG AGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCT GATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGT TTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0006 a0004c0013t0006	a0004c0013t0006g0037 a0004c0013t0006g0037	1	250	0.0040	-252	c.-59 others(19): Show c.-59-11306_-59-11055del		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SHOX_chrX_625791_656584	628430	CCTGTCTG others(245): Show CCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTG TGTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGTTTCTCTCTC TCCATCTGTCTGTCTCTCTCTTTCTCTCTCTATCTCTCCCTCTCTCTCCC TGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTG TTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGTTTCTCTCTCTC CAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG06807.hp2 NA18906.hp2 others(1): Show HG02818.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0105 a0001c0001t0174 others(1): Show a0001c0001t0008 a0001c0001t0105 a0001c0001t0174 a0001c0001t0184	a0001c0001t0008g0130 a0001c0001t0105g0129 a0001c0001t0174g0126 others(1): Show a0001c0001t0008g0130 a0001c0001t0105g0129 a0001c0001t0174g0126 a0001c0001t0184g0125	4	220	0.0182	-252	c.-24 others(11): Show c.-2467_-2216del		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding					2360		chrX	TogoVar
SLC16A9_chr10_59645764_59714850	59681444	GTATATGT others(245): Show GTATATGTGTATGTGTATGTGTATGTATATGTATATGTATATGTATATGT ATATGTATATGTATATGATGTATATGTATATGTGTATGTGTATGTGTATG TATATGTATATGTATATGATGTATATGTATATGTGTATGTGTATGTATAT GTATATGTATATGTATATGTATATGTATATGATGTATATGTATATGTGTA TGTGTATGTATATGTATATGATGTATATGTATATGTATATGTATATGTAT ATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03041.hp2 HG00735.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0268 a0001c0001t0023g0277 a0001c0001t0023g0268 a0001c0001t0023g0277	2	352	0.0057	-252	c.196 others(17): Show c.196+2400_196+2651del		SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5						chr10	TogoVar
SNX31_chr8_100567889_100654665	100598470	GAGCTAAA others(245): Show GAGCTAAAAGAAAGGAAAGTGTTTGTTTAATTAAAAGTGAAGCTCTATTT TGCAAGAAAGGTGGTGATGAGTAAGTAACTTATGTAAAATGCCTGTTGGC ATTTGACATTCGATAAAAGGGTGTTGTGATATTACTAACTATATGAACAC CAGAAGACAGAATTCTACAAGGATTCTCTACTTGAAAATTAGTTAAGATT GTACCTAAAAAAGACAATTTAACATACACAGCTGCAGAAAGTATGTTTAT ATT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03139.hp2 HG03453.hp2 others(1): Show HG03098.hp2 HG03139.hp2 HG03453.hp2 NA19240.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0005 a0001c0001 a0004c0004 a0005c0005	a0001c0001t0001 a0004c0004t0003 a0005c0005t0001 a0001c0001t0001 a0004c0004t0003 a0005c0005t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0004c0004t0003g0197 others(1): Show a0001c0001t0001g0198 a0001c0001t0001g0199 a0004c0004t0003g0197 a0005c0005t0001g0166	4	304	0.0132	-252	c.774 others(17): Show c.774+1627_775-1629del		SNX31	ENSG00000174226.9	transcript	ENST00000311812.7	protein_coding	9/13						chr8	TogoVar
SOX5_chr12_23524504_23954670	23837279	TTATATTT others(245): Show TTATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGATAT ATTTATATTTATATAATATATAAGATATATTTATATTTATATAATATATA AGA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02148.hp2 HG01433.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0170 a0001c0001t0022g0171 a0001c0001t0002g0170 a0001c0001t0022g0171	2	212	0.0094	-252	c.481 others(17): Show c.481+8452_481+8703del		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
SULT4A1_chr22_43819509_43867513	43834600	TGCTTCCC others(245): Show TGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCG GCCCTGAGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCC ACCGCTGCCCTGAGCTTCCCGCACCCACACCGCGTCCCTGTGCTTCCCGC GCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCT TCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCACACCGCGGCCC TGA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp1 HG01243.hp1 others(6): Show HG01069.hp1 HG01175.hp1 HG01243.hp1 HG01496.hp2 HG02723.hp2 HG02965.hp2 HG03098.hp1 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0008 a0001c0001t0006g0138 a0001c0001t0006g0147 others(2): Show a0001c0001t0006g0008 a0001c0001t0006g0138 a0001c0001t0006g0147 a0001c0001t0013g0084 a0001c0001t0013g0085	9	386	0.0233	-252	c.509 others(16): Show c.509-1118_509-867del		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
SULT4A1_chr22_43819509_43867513	43834838	ACACCGCG others(245): Show ACACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCC GCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAG CTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGC CCTGAGCTTCCCGCACCCACACCGCGGCCCTGTGCTTCCCGCGCCCCCAC CGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGC CCC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18906.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0136 a0001c0001t0006g0137	2	386	0.0052	-252	c.509 others(17): Show c.509-1356_509-1105del		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
TENM2_chr5_166974029_168269157	167974065	GGGAGGGA others(245): Show GGGAGGGAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAG GGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAG GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGAAAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAA GGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGG AAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0010 a0007c0011t0010	a0007c0011t0010g0038 a0007c0011t0010g0038	1	54	0.0185	-252	c.948 others(19): Show c.948-18853_948-18602del		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TERT_chr5_1248167_1300068	1290408	TGACAGGG others(245): Show TGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGG ACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCGG GGACAGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGTG CCTCACTCACCCTACACGTGACAGGGACACCCGGGGACCGCGCCTCACTC ACCCTGAACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACA CGG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02280.hp1 others(15): Show HG01884.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0019 a0001c0001 a0001c0005 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0019t0001	a0001c0001t0001g0004 a0001c0001t0001g0145 a0001c0001t0001g0146 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0003g0144 a0001c0005t0001g0003 a0001c0005t0001g0138 a0001c0005t0001g0139 a0001c0005t0001g0140 a0001c0005t0001g0141 a0001c0005t0001g0147 a0001c0005t0001g0150 a0001c0019t0001g0149	18	392	0.0459	-252	c.157 others(19): Show c.1573+2653_1573+2904del		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TMC6_chr17_78102397_78133755	78115614	GAGGAGCG others(245): Show GAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CAC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19030.hp2 HG02622.hp1 NA19030.hp2	a0005 a0007 a0005 a0007	a0005c0018 a0007c0007 a0005c0018 a0007c0007	a0005c0018t0027 a0007c0007t0002 a0005c0018t0027 a0007c0007t0002	a0005c0018t0027g0018 a0007c0007t0002g0061 a0005c0018t0027g0018 a0007c0007t0002g0061	2	444	0.0045	-252	c.227 others(19): Show c.2277+1403_2277+1654del		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	AGCGAAGG others(245): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02630.hp1 HG02647.hp2 others(4): Show HG00140.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG03471.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0017	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0017c0032	a0001c0001t0008 a0001c0001t0013 a0001c0001t0032 others(4): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0032 a0001c0001t0035 a0002c0002t0002 a0004c0006t0013 a0017c0032t0053	a0001c0001t0008g0089 a0001c0001t0013g0087 a0001c0001t0032g0276 others(4): Show a0001c0001t0008g0089 a0001c0001t0013g0087 a0001c0001t0032g0276 a0001c0001t0035g0086 a0002c0002t0002g0133 a0004c0006t0013g0040 a0017c0032t0053g0091	7	444	0.0158	-252	c.227 others(19): Show c.2277+1399_2277+1650del		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMCO1_chr1_165721795_165773868	165761972	AAACATTT others(245): Show AAACATTTTTATTAAAATGTTATAAGGATAACATTTTTATTAAAATGTTA TAAGGATAACATTTTTATTAAAATGTTATAAGGATAACATTTTTATTAAA ATGTTATAAGGATAACATTTTTATTAAAATGTTATAAGGATAACATTTTT ATTAAAATGTTATAAGGATAACATTTTTATTAAAATGTTATAAGGATAAC ATTTTTATTAAAATGTTATAAGGATAACATTTTTATTAAAATGTTATAAG GAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	374	0.0027	-252	c.149 others(17): Show c.149-2640_149-2389del		TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding	2/6						chr1	TogoVar
TXK_chr4_48061393_48139250	48104250	TTTATATA others(245): Show TTTATATATATAATATATAATATAATATATAATATATATAATATATAATA TAATATATAATATATATAATATATAATATAATATATAATATATATAATAT ATAATATAATATATAATATATATAATATATAATATTATATATAATATATA TAATATATAATATTATATATAATATATATAATATATAATATTATATATAA TATATATAATATATAATATTATATATTATATATATAATATATAATATTAT ATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02451.hp1 others(4): Show HG01884.hp1 HG02145.hp2 HG02451.hp1 HG02895.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0028 a0001c0006t0001g0029 a0001c0006t0001g0030 others(4): Show a0001c0006t0001g0028 a0001c0006t0001g0029 a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0006t0001g0095 a0001c0006t0001g0125 a0001c0006t0001g0292	7	362	0.0193	-252	c.501 others(15): Show c.501+399_501+650del		TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14						chr4	TogoVar
ZFAND2A_chr7_1147907_1165196	1156112	CGCCCAGC others(245): Show CGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACTG CCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCG AAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGA GCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAG GCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTG AAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp1 HG01496.hp2 others(5): Show HG00423.hp2 HG00738.hp1 HG01496.hp2 HG04204.hp2 NA18944.hp2 NA18964.hp2 NA19060.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0001g0114 a0001c0001t0001g0143 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0114 a0001c0001t0001g0143 a0001c0001t0002g0034 a0001c0001t0002g0083 a0001c0001t0002g0092	8	432	0.0185	-252	c.151 others(15): Show c.151-780_151-529del		ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4						chr7	TogoVar
ZFYVE28_chr4_2264597_2423645	2396471	ACACAAGG others(245): Show ACACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GACACAAGGCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01167.hp2 others(63): Show HG00735.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG02004.hp2 HG02083.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18961.hp1 NA18984.hp2 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19011.hp2 NA19030.hp2 NA19080.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0007 a0008 a0010 a0012 a0013 a0014 a0018	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0031 a0002c0003 a0002c0006 a0002c0007 a0002c0009 a0002c0032 a0003c0008 a0005c0014 a0007c0016 a0008c0021 a0010c0045 a0012c0043 a0013c0040 a0014c0039 a0018c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0002t0004 a0001c0004t0002 a0001c0005t0002 a0001c0031t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0012 a0002c0006t0001 a0002c0006t0003 a0002c0007t0002 a0002c0009t0002 a0002c0032t0002 a0003c0008t0003 a0005c0014t0002 a0007c0016t0002 a0008c0021t0001 a0010c0045t0003 a0012c0043t0001 a0013c0040t0002 a0014c0039t0001 a0018c0033t0004	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0107 others(63): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0107 a0001c0001t0001g0147 a0001c0001t0001g0172 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0047 a0001c0001t0003g0084 a0001c0001t0003g0198 a0001c0001t0003g0208 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0002t0003g0215 a0001c0002t0004g0127 a0001c0004t0002g0019 a0001c0004t0002g0043 a0001c0004t0002g0073 a0001c0004t0002g0087 a0001c0004t0002g0113 a0001c0004t0002g0114 a0001c0004t0002g0119 a0001c0004t0002g0246 a0001c0004t0002g0260 a0001c0004t0002g0265 a0001c0004t0002g0270 a0001c0005t0002g0104 a0001c0005t0002g0108 a0001c0005t0002g0109 a0001c0005t0002g0128 a0001c0005t0002g0242 a0001c0031t0001g0063 a0002c0003t0001g0054 a0002c0003t0001g0121 a0002c0003t0001g0142 a0002c0003t0001g0146 a0002c0003t0001g0165 a0002c0003t0001g0180 a0002c0003t0003g0120 a0002c0003t0004g0006 a0002c0003t0004g0017 a0002c0003t0004g0021 a0002c0003t0004g0083 a0002c0003t0004g0184 a0002c0003t0012g0181 a0002c0006t0001g0207 a0002c0006t0003g0235 a0002c0007t0002g0008 a0002c0007t0002g0095 a0002c0007t0002g0106 a0002c0009t0002g0011 a0002c0009t0002g0018 a0002c0009t0002g0105 a0002c0009t0002g0126 a0002c0009t0002g0244 a0002c0032t0002g0273 a0003c0008t0003g0191 a0005c0014t0002g0197 a0007c0016t0002g0012 a0008c0021t0001g0086 a0010c0045t0003g0085 a0012c0043t0001g0187 a0013c0040t0002g0020 a0014c0039t0001g0214 a0018c0033t0004g0274	66	290	0.2276	-252	c.39+ others(17): Show c.39+21562_39+21813del		ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12						chr4	TogoVar
ZNF154_chr19_57691275_57714204	57701854	GAACTTCC others(245): Show GAACTTCCCACATTCACTGCACTCATAAGGCCTCTCCCCAGTGTGAACTC CCCGATGTTGAAGGAGTGCAGACCTTTGGCTAAAGGATTTCCCACATTCG CTGCACTTATAAGGCCTTTCTCCAGTGTGAACCCTATGGTGTTCAATGAG GCTAGAGTTTTGGCTAAATGACTTCCCACATTCGCTGCACTCATAAGGCC TGGATCCACTGTGAACTTTCTGGTGTTTTATGAGACTGGAATGATATGTA AAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18960.hp2 NA18960.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0011 a0013c0018t0011	a0013c0018t0011g0059 a0013c0018t0011g0059	1	446	0.0022	-252	c.843 others(8): Show c.843_1094del	p.Phe others(13): Show p.Phe282_Phe365del	ZNF154	ENSG00000179909.16	transcript	ENST00000684351.1	protein_coding	3/3	1327/6907	843/1314	281/437			chr19	TogoVar
ZNF628_chr19_55471617_55489487	55472087	GAGGAAGG others(245): Show GAGGAAGGTTTTACCTGTACAGATGGAACCCTGTATATTGTTGCTTCCTC CAGGGAGTCTGCCCTGGTTTCCCCCAGGCTGCGTGAGGAAGGTTTTACCT GTACAGATGGAACCCTGTATATTGTTGCTTCCTCCAGGGAGTCTGCCCTG GTTTCCCCCAGGCTGCGTCAGGAAGGTTTTACCTGTACAGATGGAACCCT GTATATTGTTGCTTCCTCCAGGGAGTCTGCCCTGGTTTCCCCCAGGCTGC GTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	422	0.0024	-252	c.-47 others(11): Show c.-4797_-4546del		ZNF628	ENSG00000197483.11	transcript	ENST00000598519.2	protein_coding					4529		chr19	TogoVar
ZNF737_chr19_20532992_20570781	20545349	TAGGGTTT others(245): Show TAGGGTTTCTCTCCAGTATGAATTATCTTATGTGTAGTAAGGTTAGAGGA GCGCTTAAAGGCCTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAC TATGAATTATCTTATGTGCAGTAAGGTATGAAAACCGGCTAAAGGCTTTG CCACAGTCTTCACATTTGTACCGTTTCTCTCCAGTATGAATTCTCTTATG TGTAGTAAGGTGTGAGGACCAGTTGAAGGCTTTGCCACATTCTTCACATT TGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01346.hp2 HG01346.hp2	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0090 a0015c0017t0001g0090	1	336	0.0030	-252	c.602 others(7): Show c.602_853del	p.Phe others(13): Show p.Phe201_Pro284del	ZNF737	ENSG00000237440.9	transcript	ENST00000427401.9	protein_coding	4/4	994/8352	602/1611	201/536			chr19	TogoVar
ZNF93_chr19_19895946_19940575	19934065	ATGTGAAG others(245): Show ATGTGAAGAATGTGGCAAAGCCTTCATTTGGTCCTCAGTCCTAACTAGAC ATAAGAGAGTTCATACTGGAGAGAAGCCCTACAAATGTGAAGAATGTGGC AAAGCCTTTAAGTACTCCTCTACCCTTAGTTCACATAAGAGAAGTCATAC TGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTTTGTTGCAT CCTCAACCCTTAGTAAACATGAGATCATTCATACTGGAAAGAAACCCTAC AAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp2 HG00639.hp2 HG01255.hp2 others(20): Show HG00621.hp2 HG00639.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01981.hp1 HG02040.hp1 HG02074.hp2 HG02273.hp2 NA18942.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18969.hp1 NA18984.hp2 NA18990.hp2 NA19000.hp1 NA19003.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19076.hp2 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0016 a0003c0004 a0003c0016	a0003c0004t0003 a0003c0016t0003 a0003c0004t0003 a0003c0016t0003	a0003c0004t0003g0004 a0003c0004t0003g0042 a0003c0004t0003g0043 others(11): Show a0003c0004t0003g0004 a0003c0004t0003g0042 a0003c0004t0003g0043 a0003c0004t0003g0147 a0003c0004t0003g0148 a0003c0004t0003g0151 a0003c0004t0003g0152 a0003c0004t0003g0153 a0003c0004t0003g0168 a0003c0004t0003g0169 a0003c0004t0003g0170 a0003c0004t0003g0171 a0003c0004t0003g0173 a0003c0016t0003g0043	23	388	0.0593	-252	c.113 others(9): Show c.1131_1382del	p.Phe others(13): Show p.Phe378_Ala461del	ZNF93	ENSG00000184635.17	transcript	ENST00000343769.6	protein_coding	4/4	1274/2763	1131/1863	377/620		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306298	ATCGCCAG others(245): Show ATCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTA CTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTC CCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGATGGGA GATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCTTCTCCC ACG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00597.hp2 others(50): Show HG00280.hp2 HG00558.hp2 HG00597.hp2 HG01175.hp1 HG01934.hp1 HG02040.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18954.hp1 NA18955.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0001c0008 others(3): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0009 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0006t0001 a0001c0008t0001 a0002c0002t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 others(50): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0340 a0001c0001t0009g0190 a0001c0006t0001g0228 a0001c0008t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0214 a0002c0002t0001g0219 a0002c0002t0001g0222 a0002c0002t0001g0337 a0002c0002t0001g0339 a0003c0004t0001g0338 a0004c0005t0001g0241	53	362	0.1464	-252	c.-12 others(19): Show c.-128+6733_-128+6984del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ACAP3_chr1_1287391_1312930	1289785	CCCCGTGT others(244): Show CCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	295	0.0034	-251	c.35 others(11): Show c.3528_*3778del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2605		chr1	TogoVar
APCDD1_chr18_10449635_10494949	10462407	TTTCCTTC others(244): Show TTTCCTTCCTTCCTTCCTTTCCCCCTTGCTCCCTCTCTCCTTTCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTCCCTTCCTTCCTTCCTG TGACCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCTT CC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG02723.hp1 others(1): Show HG00280.hp1 HG00642.hp2 HG02723.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0039 a0001c0002t0001 a0001c0008t0039	a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 others(1): Show a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0008t0039g0263	4	422	0.0095	-251	c.59- others(15): Show c.59-6043_59-5793del		APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr18	TogoVar
CPNE7_chr16_89570758_89602246	89598842	AGGTCTCA others(244): Show AGGTCTCAGGGGCTGGGCAGAGGGTGCGTGTCAGGGCCCTGTGCAGGTGT GGGGGGGTCTCAGGCTGGACAGAGGGTGAGTATCCGGGCCTTGTGCAGAT CGGAGGTCTCAGGGGCTGGGCAGAGGGTGCGTGTCAGGGCCCTGTGCTGA TCGGGGGTCTCGGGCTGGACAGAGGGTGTCAGGGCCCTGTGCAGGTGTGG GGGGGTCTCAGGCTGGACAGAGGGTGAGTATCAGGGCCCTGTGCTGATCG GG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0195 a0001c0023t0001g0195	1	348	0.0029	-251	c.22 others(11): Show c.2222_*2472del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					1597		chr16	TogoVar
DHRS12_chr13_51762993_51809163	51775614	TCTCCTAC others(244): Show TCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTA TTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACA TGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGT ATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATG TATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTC TC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	420	0.0024	-251	c.363 others(17): Show c.363+1195_363+1445del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DLGAP2_chr8_732628_1713476	933573	AGACATCT others(244): Show AGACATCTGGCCGTGGGCACGAGGGGAGGGTGAGGGCAGAGCCTGCTGTG GAGACACCTGGCTGTGGGCACGAGGGGAGGGTGAGGGCAGAGCCTGCTGT GGACACCTGGCCGTGGGCACAAGGGGAGGGTGAGGGCAGAGCCTGCTGTG GAGACACCTGGCCGTGGGCACGAGGGGAGGGTGAGGGCAGAGCCTGCTGT GGAGACACCTGGCCGTGGGCACGAGGGGAGGGTGAGGGCAGAGCCTGCTG TG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0031 a0003c0005t0002g0031	1	40	0.0250	-251	c.73+ others(17): Show c.73+25612_73+25862del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241805789	CCCCTCAG others(244): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGG ACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01074.hp1 NA18999.hp2 HG00280.hp2 HG01074.hp1 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0030 a0001c0001t0001g0194 a0002c0002t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0194 a0002c0002t0001g0003	3	314	0.0096	-251	c.16 others(11): Show c.1624_*1874del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1503		chr2	TogoVar
MAEA_chr4_1284891_1345137	1333786	CCCACTCC others(244): Show CCCACTCCCGTGCCCATGTGCCCACCCCTGCACCCACCCCATGCCCACCG TGTGCTCACCCCCCTGCCCACCCCCATGCCCGTGCTCACCTCTGCACCCA CCCCATGCCCACCCCCATGCCCACCTGTGCTCACCCCCATGCCCACTCCC GTGCCCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCC CTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCC CA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02257.hp1 HG02630.hp2 others(12): Show HG01975.hp1 HG02257.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03486.hp1 HG03579.hp2 NA18906.hp2 NA18971.hp2 NA19043.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0138 others(12): Show a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0209 a0001c0001t0001g0377 a0001c0001t0013g0161 a0001c0002t0001g0082 a0001c0002t0001g0095 a0001c0002t0001g0371 a0001c0009t0001g0103	15	388	0.0387	-251	c.765 others(16): Show c.765+925_765+1175del		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19452100	GAAGAGAA others(244): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03516.hp1 HG02257.hp1 HG03516.hp1	a0000 a0002 a0000 a0002	a0000c0021 a0002c0002 a0000c0021 a0002c0002	a0000c0021t0007 a0002c0002t0022 a0000c0021t0007 a0002c0002t0022	a0000c0021t0007g0054 a0002c0002t0022g0161 a0000c0021t0007g0054 a0002c0002t0022g0161	2	163	0.0123	-251	c.995 others(17): Show c.995+4562_995+4812del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MROH6_chr8_143561192_143577772	143569124	CAGACTGA others(244): Show CAGACTGACAGACTGGGGGGCGGGGCATGGGAAGGAGAAACTAGAGGGGC GGGCGGGGCCTGGGAGGCGGGGCCTGGGAGGGAGAGACTGTAGGGGCGGG GCGGGGCATGAGAGGGAGAAACAGGAGGGGCGGGGCGGGGCCTGGGAGGG AGACTGGGGGCGGGGCCTGGGAGGGAGAGACTGGAAGGGCGGGGCGGGGC CTGAGAGGGCGGGGCCTGGGCGGGAGAGACGGGGGCGGGGCCTGGGAGGG AG	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0163 a0002c0002t0004g0163	1	437	0.0023	-251	c.147 others(16): Show c.1476+66_1476+316del		MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding	9/13						chr8	TogoVar
MYBPHL_chr1_109287365_109312011	109288251	TCTTACTC others(244): Show TCTTACTCTGTTGCCTAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACT GCAAGCTCCGCCTCCTGGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGA GTAGCTGTGACTACAGGCGCCCGCCACCGCACCTGGCTAATTTTCTGTAC TTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTTGATCTC CTGACCTCGTGATCCGCCCTCCTCGGTCTCCCAAAGTGCTGGGATTACAG GC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02109.hp1 HG02486.hp2 others(9): Show HG00642.hp1 HG02109.hp1 HG02486.hp2 HG03098.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03710.hp1 HG04115.hp1 NA18906.hp2 NA21309.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0010 a0008c0013 a0001c0001 a0002c0010 a0008c0013	a0001c0001t0001 a0002c0010t0006 a0008c0013t0001 a0001c0001t0001 a0002c0010t0006 a0008c0013t0001	a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0118 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0182 a0002c0010t0006g0133 a0008c0013t0001g0107	12	436	0.0275	-251	c.41 others(11): Show c.4120_*4370del		MYBPHL	ENSG00000221986.7	transcript	ENST00000357155.2	protein_coding					4113		chr1	TogoVar
NEU4_chr2_241804193_241822413	241805789	CCCCTCAG others(244): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGG ACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 NA18999.hp1 NA19030.hp1 HG00280.hp1 NA18999.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0001 a0002c0003t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0002	a0001c0001t0003g0128 a0001c0002t0001g0015 a0002c0003t0002g0036 a0001c0001t0003g0128 a0001c0002t0001g0015 a0002c0003t0002g0036	3	319	0.0094	-251	c.-34 others(11): Show c.-3488_-3238del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3403		chr2	TogoVar
PARVB_chr22_44019302_44177939	44114757	AAGGCCCT others(244): Show AAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCACC AACACAGATGCATTGTTACTAACTAAGGCCCTGTACCAACACAGATACAT TGTTACTAGCTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAA GGCCCTGTACCAACACAGATATATTGTTACTAACTAAGGCCCTGCACCAA CACAGATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTG TT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	332	0.0030	-251	c.274 others(17): Show c.274-4279_274-4029del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PPL_chr16_4877507_4942148	4901525	CAAAAATA others(244): Show CAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCA GCTACTTGAGAGGCTGAGGTGGGAGGATCACCTAAGCCTGGGAAGTTGAG GCTGCAGTGAGCCGTGATCATGCCACTGCATTCCAGCCTGGGAGACAGAG TGAGACCTTGTGTCAAAAATAAATAAATAAATAAATAATAAAACTGGGGA AGCTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCAAAGCCCCGTCTCT AT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp2 HG02015.hp1 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0143 a0002c0002t0002g0157 a0002c0002t0002g0143 a0002c0002t0002g0157	2	372	0.0054	-251	c.438 others(15): Show c.438+630_439-437del		PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	4/21						chr16	TogoVar
PRKCE_chr2_45646675_46192990	46085557	TGTGACTG others(244): Show TGTGACTGTTTCACTCCAATCTCTGCCTCTGTGGCCACTTGGCCTCCTCC TCCCTGACTCAGGTCTTCCTCTACCTGCCTCTTATAAGGACACTTATGAT TGTATTTAAGACCCACGCTGGTAATCCAGGATAACCTCCCTATCTCAGGA TCCTTCACTTAATTACATCTGCAAAATCCGTTTTTTTTTTTTGTTTTTGT TTTTTTTTTTTTTTTTAGCCATATAAGGTAACATTCACACATTCAAGGGT TA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00609.hp1 others(40): Show HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00738.hp1 HG00738.hp2 HG01169.hp2 HG01255.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02258.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03486.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18959.hp1 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19066.hp2 NA19074.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0011 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0017 a0001c0002t0023 a0001c0007t0022 a0001c0009t0016 a0001c0011t0001 a0002c0004t0004	a0001c0001t0001g0076 a0001c0001t0002g0002 a0001c0001t0002g0110 others(40): Show a0001c0001t0001g0076 a0001c0001t0002g0002 a0001c0001t0002g0110 a0001c0001t0002g0119 a0001c0001t0002g0126 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0003g0159 a0001c0001t0004g0099 a0001c0001t0006g0045 a0001c0001t0007g0022 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0031 a0001c0002t0001g0042 a0001c0002t0001g0054 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0089 a0001c0002t0001g0105 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0136 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0002g0046 a0001c0002t0003g0009 a0001c0002t0003g0041 a0001c0002t0005g0107 a0001c0002t0005g0120 a0001c0002t0006g0013 a0001c0002t0006g0153 a0001c0002t0017g0143 a0001c0002t0023g0117 a0001c0007t0022g0032 a0001c0009t0016g0094 a0001c0011t0001g0144 a0002c0004t0004g0052 a0002c0004t0004g0065	43	168	0.2560	-251	c.143 others(17): Show c.1438-649_1438-399del		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PXDN_chr2_1626887_1749515	1695435	CTGGACAG others(244): Show CTGGACAGAGAGGTGCTGTCCCATCCACAGGCCCCTGTGCCCTGCTGGAC AGAGAGGTGCTGTCCCATTCACAGGCCCCTGTGCCCTGCTGGACAGAGAG GTGCTGTCCCATTCACAGGCCCCTGTGCCCTGCTGGACAGAGAGGTGCTG TCCCATCCACAGGCCCCTGTGCCCTGCTGGACAGAGAGGTGCTGTCCCAT CCACAAGCCCCTATGCCCTGGGTCTGAGCACCTGAGAGGTGGCCTAGAGT GA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0029 a0001c0004t0004g0029	1	322	0.0031	-251	c.201 others(17): Show c.201-2552_201-2302del		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
SLC12A7_chr5_1045384_1117063	1072501	CAGCCCCC others(244): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAG TG	C C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0031 a0002c0011t0002g0031	1	118	0.0085	-251	c.224 others(18): Show c.2241+881_2241+1131del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SRBD1_chr2_45383680_45616267	45414928	CACACAGT others(244): Show CACACAGTGTTATATAGTATGTACATACACACACATATAGTGTGTATATA GTATGTATATACACACATATAGTGTGTATATAGTATGTATATACACACAT ATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGTAT GTATATACACACATATAGTGTGTATATAGTATGTATATACACACATATAG TGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGTATGTAT AT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02257.hp2 HG03041.hp2 others(1): Show HG00423.hp2 HG02257.hp2 HG03041.hp2 NA18951.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0020 a0001c0001 a0002c0002 a0006c0020	a0001c0001t0001 a0002c0002t0001 a0006c0020t0001 a0001c0001t0001 a0002c0002t0001 a0006c0020t0001	a0001c0001t0001g0249 a0002c0002t0001g0080 a0002c0002t0001g0081 others(1): Show a0001c0001t0001g0249 a0002c0002t0001g0080 a0002c0002t0001g0081 a0006c0020t0001g0082	4	358	0.0112	-251	c.233 others(19): Show c.2334-1886_2334-1636del		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20						chr2	TogoVar
TRAPPC9_chr8_139722725_140462744	140157001	CTTTTCCA others(244): Show CTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCA TTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGC CTCCCTTTCCATTCAGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTT CCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAA AAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCC CT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0018 a0001c0008t0018	a0001c0008t0018g0023 a0001c0008t0018g0023	1	98	0.0102	-251	c.255 others(21): Show c.2556+64207_2556+64457del		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22						chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140157064	CTTTCCAT others(244): Show CTTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATT CAGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAGAAGCC TCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTT CCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAA AAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCC CT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0004	1	98	0.0102	-251	c.255 others(21): Show c.2556+64144_2556+64394del		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22						chr8	TogoVar
AMPH_chr7_38378704_38636373	38406771	TCTCTCGT others(243): Show TCTCTCGTGCTGGATGCCTGCTTTCTCTCCTACTGCCCAAAACTCAAGGT TTTGGGACTTAACACCAGTGGCCTCTTGGGGGTTCTCAGGCCTTTGGCAT CACACAGAGCTTCATTGTCAGCTTCCCTGGTTTGAAGCTTTCAGACTTAG GCTGAGCCTTGCTACTGGTTTCTCTCTGTCCCCAGCTTGCAGATGGCCAA TCGTGGGACTTTGCCTTGTAATTGCATAAGCCAATTTTCCCTAATAGACT C	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	288	0.0035	-250	c.139 others(21): Show c.1398+10804_1398+11053del		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
ASMT_chrX_1610059_1648081	1640610	CTGTGTGT others(243): Show CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT G	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	223	0.0045	-250	c.911 others(17): Show c.911-2183_911-1934del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640775	CTGTGTGT others(243): Show CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT G	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	223	0.0045	-250	c.911 others(17): Show c.911-2018_911-1769del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
BANP_chr16_87946434_88082316	88000011	CCCAGACA others(243): Show CCCAGACACGTCTCCATGCACGCATGTGCGCGGCTGTACTTACCTGTCCT TCCAGACACGTCTCCATGCCCGCACGTGCGCGGCTGTACTTACCAGGCCT TCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCT TCCAGACACGTCTCCATGCACGCACTTGCACGGCTGTACTTACCAGGCCT TCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTCACCTGTCCT T	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02818.hp1 others(4): Show HG01884.hp1 HG02257.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0111 others(4): Show a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0111 a0001c0008t0001g0270 a0001c0008t0001g0271 a0001c0008t0001g0272 a0001c0008t0001g0273	7	352	0.0199	-250	c.363 others(17): Show c.363-4260_363-4011del		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC73_chr11_32597721_32799662	32756173	CTCCATAT others(243): Show CTCCATATATATATCTATATATATATCTCCATATATATATCTATATATAT ATCTCCATATATATATCTATATATATATCTCCATATATATATCTATATAT ATATCTCCATATATATATCTATATATATATCTCCATATATATATCTATAT ATATATCTCCATATATATATCTATATATATATCTCCATATATATATCTAT ATATATATCTCCATATATATATCTATATATATATCTCCATATATATATCT A	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	312	0.0032	-250	c.135 others(17): Show c.135+3686_135+3935del		CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17						chr11	TogoVar
CDH4_chr20_61247261_61945617	61783771	CGGGACAG others(243): Show CGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGT AATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCC CCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCG ATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCT CGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCT T	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02451.hp1 HG02723.hp1 others(1): Show HG01106.hp1 HG02451.hp1 HG02723.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 others(1): Show a0001c0001 a0001c0006 a0002c0004 a0002c0014	a0001c0001t0040 a0001c0006t0006 a0002c0004t0002 others(1): Show a0001c0001t0040 a0001c0006t0006 a0002c0004t0002 a0002c0014t0003	a0001c0001t0040g0055 a0001c0006t0006g0029 a0002c0004t0002g0080 others(1): Show a0001c0001t0040g0055 a0001c0006t0006g0029 a0002c0004t0002g0080 a0002c0014t0003g0090	4	106	0.0377	-250	c.576 others(19): Show c.576+10924_576+11173del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr20	TogoVar

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Search Results (Total: 10000 hits)