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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTTC others(396): Show CCCCCTTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCC TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CTCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0227	1	256	0.0039	403	c.-45 others(424): Show c.-455+14580_-455+14581insTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCTCTCCCCT	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	628515	C C	CCCCTTCT others(396): Show CCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCACAGGCCCCGGGGAT TGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGG TCGCCGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAG CTTCTGGAGAACTCAGGTTGCAGTCCCCGGGGAGTGTTCCCAGGACCCAG CCCCCTTCTTTGTGCAGCGTTATGGAGAACTCAGGTCACGGTTCCTGGGG AGTGTTCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCA GGTTGCAGTCCCCGGGGAGTGTTCCCAGGACCCAGCGCCCTTCTTTGTGC AGCTTCTGGAGAACTCAGGTCACCGTCCCCGGGGAGTGTTCCCAGGACCC AGCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	91	0.0110	403	c.512 others(420): Show c.512+3969_512+3970insCACAGGCCCCGGGGATTGGCCCCAGGAC CCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCCGTCCCCG GGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAAC TCAGGTTGCAGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTG TGCAGCGTTATGGAGAACTCAGGTCACGGTTCCTGGGGAGTGTTCCCAGG ACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCC CGGGGAGTGTTCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGA ACTCAGGTCACCGTCCCCGGGGAGTGTTCCCAGGACCCAGCGCCCTTCTT TGTGCAGCTTCTGGAGAACTCAGGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(396): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCC TTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG06807.hp1 HG02630.hp2 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0032 a0001c0006t0001g0013 a0001c0006t0001g0032	2	354	0.0057	403	c.69 others(414): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20320387	T T	TATAATAT others(396): Show TATAATATATGTAATATATATTATATATGTAATATATTATATATGTAATA TATATTATATATATAATATATGTAATATATATTATATATATTATATATGC AATATATATTATATATATTATATATGCAATATATATTATATATTACATAT GTAATATATATTATATATTACATATGTAATATATATTACATATGTAATAT ATTATATATGTAATATATATTACATATATTATATATGTAATATATATTAT ATATGTAATATATAATATATATTATATATGTAATATATATTATATATGTA ATATATATTATATATGTAATATATAATATATATTATATATGTAATATATA ATATATATTATATATGTAATATATAATATATATGTAATATATATTATATA TGTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0003 a0002c0009t0002 a0002c0009t0003	a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107	3	236	0.0127	403	c.342 others(424): Show c.3423-21441_3423-21440insATATATGTAATATATATTATATAT GTAATATATTATATATGTAATATATATTATATATATAATATATGTAATAT ATATTATATATATTATATATGCAATATATATTATATATATTATATATGCA ATATATATTATATATTACATATGTAATATATATTATATATTACATATGTA ATATATATTACATATGTAATATATTATATATGTAATATATATTACATATA TTATATATGTAATATATATTATATATGTAATATATAATATATATTATATA TGTAATATATATTATATATGTAATATATATTATATATGTAATATATAATA TATATTATATATGTAATATATAATATATATTATATATGTAATATATAATA TATATGTAATATATATTATATATGTAATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRM2_chr7_136863652_137025213	136867855	T T	TATATATA others(396): Show TATATATATATATTCTGGATATATATATCCTGGACATATATATATATATA TATATATATATTCTGGATATATATATCCTGGACATATATATATATATATA TATATATTCTGGATATATATATCCTGGACATATATATATATATATATATA TTCTGGATATATATATATTCTGGATATATATATATATTCTGGATATATAT ATATATATTCTGGATATATATATATATTCTGGATATATATATCCTGGACA TATATATATATATATATATATTCTGGATATATATATATATATTCTGGATA TATATATCCTGGACATATATATATATATATATATATTCTGGATATATATA TCCTGGACATATATATATATATATATATATATTCTGGATATATATATCCT GGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02572.hp1 HG01099.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0079 a0001c0001t0077 a0001c0001t0079	a0001c0001t0077g0107 a0001c0001t0079g0101 a0001c0001t0077g0107 a0001c0001t0079g0101	2	320	0.0063	403	c.-14 others(414): Show c.-1420_-1419insATATATATATATTCTGGATATATATATCCTGGAC ATATATATATATATATATATATATATTCTGGATATATATATCCTGGACAT ATATATATATATATATATATATTCTGGATATATATATCCTGGACATATAT ATATATATATATATATTCTGGATATATATATATTCTGGATATATATATAT ATTCTGGATATATATATATATATTCTGGATATATATATATATTCTGGATA TATATATCCTGGACATATATATATATATATATATATTCTGGATATATATA TATATATTCTGGATATATATATCCTGGACATATATATATATATATATATA TTCTGGATATATATATCCTGGACATATATATATATATATATATATATTCT GGATATATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		796		chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148331625	T T	TGGATGGA others(396): Show TGGATGGAATGGACGGATGGAGTGGATGGATGGAGTGGATGGATGGAATG GACGGATGGATTGGATGGATGGAGTGGATGGATGGAATGGACGGATGGAG TGGATGGATGGAATGGTCAGATGGAGTGGATGGATAGAGTGGATGGATGG AACAGACGGATGGAATGGACGGATGGAGTGGATGGATGGAATGGACGGAT GGAGTCGATGGATGGAGTGGATGGATGGAATGGACAGATGGAGTGGATGG ATGGAGTGGATGGATGGAATGGACGGATGGAGTGGATGGATGGAGTGGAT GGATGGAATGGACGGATGGAGTCGATGGATGGAATGGACGGATGGAGTGG ATGGATGGAATGGACAGATGGATTGGATGGATGGAATGGACGGATGGAGT GGAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02897.hp1 HG03540.hp1 HG02451.hp2 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0010 a0001c0001t0002 a0001c0002t0001 a0001c0002t0010	a0001c0001t0002g0006 a0001c0002t0001g0008 a0001c0002t0010g0002 a0001c0001t0002g0006 a0001c0002t0001g0008 a0001c0002t0010g0002	3	40	0.0750	403	c.347 others(424): Show c.3476-52017_3476-52016insATGGACGGATGGAGTGGATGGATG GAGTGGATGGATGGAATGGACGGATGGATTGGATGGATGGAGTGGATGGA TGGAATGGACGGATGGAGTGGATGGATGGAATGGTCAGATGGAGTGGATG GATAGAGTGGATGGATGGAACAGACGGATGGAATGGACGGATGGAGTGGA TGGATGGAATGGACGGATGGAGTCGATGGATGGAGTGGATGGATGGAATG GACAGATGGAGTGGATGGATGGAGTGGATGGATGGAATGGACGGATGGAG TGGATGGATGGAGTGGATGGATGGAATGGACGGATGGAGTCGATGGATGG AATGGACGGATGGAGTGGATGGATGGAATGGACAGATGGATTGGATGGAT GGAATGGACGGATGGAGTGGACGGATGGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148331625	T T	TGGATGGA others(396): Show TGGATGGAATGGACGGATGGAGTGGATGGATGGAGTGGATGGATGGAATG GACGGATGGATTGGATGGATGGAGTGGATGGATGGAATGGACGGATGGAG TGGATGGATGGAATGGTCAGATGGAGTGGATGGATAGAGTGGATGGATGG AACGGACGGATGGAATGGACGGATGGAGTGGATGGATGGAATGGACGGAT GGAGTCGATGGATGGAGTGGATGGATGGAATGGACAGATGGAGTGGATGG ATGGAGTGGATGGATGGAATGGACGGATGGAGTGGATGGATGGAGTGGAT GGATGGAATGGACGGATGGAGTCGATGGATGGAATGGACGGATGGAGTGG ATGGATGGAATGGACAGATGGATTGGATGGATGGAATGGACGGATGGAGT GGAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG02486.hp1 others(3): Show HG00735.hp1 HG01891.hp2 HG02486.hp1 HG03239.hp1 NA18522.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0007 a0001c0001 a0001c0006 a0003c0007	a0001c0001t0006 a0001c0001t0007 a0001c0006t0009 others(2): Show a0001c0001t0006 a0001c0001t0007 a0001c0006t0009 a0001c0006t0014 a0003c0007t0017	a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 others(3): Show a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0006t0009g0028 a0001c0006t0014g0033 a0003c0007t0017g0031	6	40	0.1500	403	c.347 others(424): Show c.3476-52017_3476-52016insATGGACGGATGGAGTGGATGGATG GAGTGGATGGATGGAATGGACGGATGGATTGGATGGATGGAGTGGATGGA TGGAATGGACGGATGGAGTGGATGGATGGAATGGTCAGATGGAGTGGATG GATAGAGTGGATGGATGGAACGGACGGATGGAATGGACGGATGGAGTGGA TGGATGGAATGGACGGATGGAGTCGATGGATGGAGTGGATGGATGGAATG GACAGATGGAGTGGATGGATGGAGTGGATGGATGGAATGGACGGATGGAG TGGATGGATGGAGTGGATGGATGGAATGGACGGATGGAGTCGATGGATGG AATGGACGGATGGAGTGGATGGATGGAATGGACAGATGGATTGGATGGAT GGAATGGACGGATGGAGTGGACGGATGGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL21A1_chr6_56051590_56252580	56098448	T T	TAAATATA others(396): Show TAAATATATAGAAATATATAAATATACATATAAATATATATAAATATATA TGTAAATATATAAATATATAAATATATATGTAAATATATAAATATATATA AATATATATATAAATATATATATAATAAATATATATAAATATATAAATAT ATATAAATACATATGTAAATATATAAATATATATAAATATATAAATATAT AGATATATATATAAATATATATAAATATATATAGATATATATATAAATAT ATATAAATATATATAGATATATATATAAATATATATAAATATATATAGAT ATATATATAAATATATATAAATATATATAGATATATATAAATATATATAA ATATATATAGATATAGATATATATAAATATATATAGATATATAGATATAT ATAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0065 a0001c0007t0004g0065	1	264	0.0038	403	c.181 others(422): Show c.1812+3023_1812+3024insTTATATATATCTATATATCTATATAT ATTTATATATATCTATATCTATATATATTTATATATATTTATATATATCT ATATATATTTATATATATTTATATATATATCTATATATATTTATATATAT TTATATATATATCTATATATATTTATATATATTTATATATATATCTATAT ATATTTATATATATTTATATATATATCTATATATTTATATATTTATATAT ATTTATATATTTACATATGTATTTATATATATTTATATATTTATATATAT TTATTATATATATATTTATATATATATTTATATATATTTATATATTTACA TATATATTTATATATTTATATATTTACATATATATTTATATATATTTATA TGTATATTTATATATTTCTATATATTT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(396): Show CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCC CTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAA TGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCA CAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGG GGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCT GGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACG CCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01361.hp2 HG03195.hp2 others(5): Show HG00280.hp2 HG01361.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0003c0005 others(2): Show a0001c0001 a0002c0003 a0003c0005 a0003c0007 a0004c0006	a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 others(3): Show a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0003c0005t0003 a0003c0007t0001 a0004c0006t0004	a0001c0001t0002g0153 a0002c0003t0001g0134 a0002c0003t0002g0138 others(5): Show a0001c0001t0002g0153 a0002c0003t0001g0134 a0002c0003t0002g0138 a0003c0005t0003g0145 a0003c0005t0003g0156 a0003c0007t0001g0137 a0004c0006t0004g0135 a0004c0006t0004g0136	8	236	0.0339	403	c.294 others(420): Show c.294+4234_294+4235insAGGGCGTTACCCCAGCGCCATCCAGGGC TGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGC GCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGAG TGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCC AGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTG TAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGC CATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCA TTACCCCAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585731	C C	CACAGCCC others(396): Show CACAGCCCTGGTTGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCT GGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAA CGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATG GCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCA CAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGG GGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCT GGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATG CCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	236	0.0042	403	c.294 others(420): Show c.294+4172_294+4173insAGGGCATTACCCCAGCGCCATCCAGGGC TGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGC GCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAG TGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCC AGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGC CATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTG TTACCCCAGCGCCAACCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110201319	G G	GGGAGGAG others(396): Show GGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAG GAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAA GGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGG AGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAA GAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGA GGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGG AGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAG AAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGGAAGAGGAGG AACA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA20129.hp2 NA18522.hp2 NA20129.hp2	a0003 a0007 a0003 a0007	a0003c0045 a0007c0063 a0003c0045 a0007c0063	a0003c0045t0001 a0007c0063t0003 a0003c0045t0001 a0007c0063t0003	a0003c0045t0001g0198 a0007c0063t0003g0106 a0003c0045t0001g0198 a0007c0063t0003g0106	2	344	0.0058	403	c.108 others(420): Show c.1084+118_1084+119insTGTTCCTCCTCTTCCTTCCTCCTCCCCC TCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTC TTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCT CCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCC TTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTC CTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCC CCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTC TCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTC CTCCCCCTCCTTCTCTTCCTCCTCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	19/51			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232186	G G	GTCACCAC others(396): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACTACCATTACTGTCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACTATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0017	1	396	0.0025	403	c.513 others(418): Show c.513-991_513-990insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACTACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC TGCCCACCACTATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251040	C C	CCACACAT others(396): Show CCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCA CACCCCCCACATCCCCCACACCCCCCACATCCCCCCACATCCCCCACACC CCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCCAAATCCCC CACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAAT CCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACACCCCCC AAATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACACC CCCCACACATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCC CACACCCCCCACACATCCCCCACACCCCCCACACATCCCCCACACCCCCC ACAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0052 a0002c0002t0004g0052	1	116	0.0086	403	c.207 others(422): Show c.2073+1357_2073+1358insACACATCCCCCACACCCCCAAATCCC CCACACCCCCCACATCTCCCCACACCCCCCACATCCCCCACACCCCCCAC ATCCCCCCACATCCCCCACACCCCCACACATCCCCCACACCCCCACACAT CCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACACCCCCC AAATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACACC CCCCAAATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCA CACCCCCCAAATCCCCCACACCCCCCACACATCCCCCACACCCCCCAAAT CCCCCACACCCCCCAAATCCCCCACACCCCCCACACATCCCCCACACCCC CCACACATCCCCCACACCCCCCACATC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397652	C C	CGGGGTGG others(396): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGT GAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG03486.hp2 others(1): Show HG02257.hp2 HG02258.hp1 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0001g0171 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0001g0171 a0001c0006t0002g0184	4	367	0.0109	403	c.-43 others(414): Show c.-4312_-4311insGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4232		chr16	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(396): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGG GGGTCAGCCCCCCCGCCCGGCCCACCCGCCCCGTCCGGGAGGCAAGGGGC GCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGC CAGCTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCC AGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAG GTGG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	322	0.0031	403	c.976 others(418): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGG CTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
FBXL14_chr12_1560993_1599581	1574397	T T	TAAGAGGA others(396): Show TAAGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGAGG CTGGCGGCAGCACTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCA GCCGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCT GGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCG GTGTGGATGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTG GAGGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCG GTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGG TGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTG GGTG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18974.hp2 NA18986.hp1 others(2): Show NA18972.hp2 NA18974.hp2 NA18986.hp1 NA19002.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0082 a0001c0001t0001g0161 a0001c0001t0001g0199 others(2): Show a0001c0001t0001g0082 a0001c0001t0001g0161 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0004g0198	5	418	0.0120	403	c.119 others(422): Show c.1195-7588_1195-7587insCACCCAGCCTCCACCCACACCGCTGC CACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCAG CCTCCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCC CACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAGC CTCCTCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCAC CCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTC CCCTCACCCCAGCCTCCACCCACACGGCTGCCACCAGCCTCCCCTCACCC CAGCCTCCATCCACAGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCAT CCACACCGCTGCCACCAGCCTCCTCTT	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXL14_chr12_1560993_1599581	1574398	G G	GAGAGGAG others(396): Show GAGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGAGGC TGGCGGCAGCACTGTGGATGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAG CCGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTG GTGGCAGCAGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGG TGTGGATGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGG AGGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGG TGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGT GGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGG GTGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	418	0.0024	403	c.119 others(422): Show c.1195-7589_1195-7588insTCACCCAGCCTCCACCCACACCGCTG CCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCA GCCTCCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCC CCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAG CCTCCTCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCA CCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCT CCCCTCACCCCAGCCTCCACCCACACGGCTGCCACCAGCCTCCTCTCACC CCAGCCTCCATCCACAGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCA TCCACACCGCTGCCACCAGCCTCCTCT	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXL14_chr12_1560993_1599581	1574398	G G	GAGAGGAG others(396): Show GAGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGAGGC TGGCGGCAGCACTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAG CCGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTG GTGGCAGCAGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGG TGTGGATGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGG AGGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGG TGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGT GGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGAGGTGTGGGTGGAGGCTGG GTGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01346.hp2 HG02257.hp2 others(2): Show HG01070.hp1 HG01346.hp2 HG02257.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0211 a0001c0001t0001g0237 a0001c0001t0005g0018 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0237 a0001c0001t0005g0018 a0001c0001t0005g0368	5	418	0.0120	403	c.119 others(422): Show c.1195-7589_1195-7588insTCACCCAGCCTCCACCCACACCTCTG CCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCA GCCTCCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCC CCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAG CCTCCTCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCA CCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCT CCCCTCACCCCAGCCTCCACCCACACGGCTGCCACCAGCCTCCCCTCACC CCAGCCTCCATCCACAGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCA TCCACACCGCTGCCACCAGCCTCCTCT	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXL14_chr12_1560993_1599581	1574398	G G	GAGAGGAG others(396): Show GAGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGAGGC TGGCGGCAGCACTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAG CCGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTG GTGGCAGCAGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGG TGTGGATGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGG AGGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGG TGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGT GGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGG GTGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp2 HG02451.hp1 others(9): Show HG01358.hp2 HG01496.hp2 HG02451.hp1 HG02723.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03516.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0189 a0001c0001t0001g0220 a0001c0001t0001g0223 others(9): Show a0001c0001t0001g0189 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0261 a0001c0001t0003g0188 a0001c0001t0005g0352 a0001c0001t0005g0355 a0001c0001t0005g0357 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0013g0375	12	418	0.0287	403	c.119 others(422): Show c.1195-7589_1195-7588insTCACCCAGCCTCCACCCACACCGCTG CCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCA GCCTCCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCC CCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAG CCTCCTCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCA CCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCT CCCCTCACCCCAGCCTCCACCCACACGGCTGCCACCAGCCTCCCCTCACC CCAGCCTCCATCCACAGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCA TCCACACCGCTGCCACCAGCCTCCTCT	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
GABRB3_chr15_26538552_26778066	26716783	G G	GACAGCCC others(396): Show GACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	204	0.0049	403	c.240 others(422): Show c.240+55618_240+55619insGGTTGGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCA TTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTAGGCTGTGGTTGGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(396): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATG	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1 HG01081.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0001c0001t0002 a0001c0001t0003 a0001c0004t0002	a0001c0001t0002g0013 a0001c0001t0003g0012 a0001c0004t0002g0011 a0001c0001t0002g0013 a0001c0001t0003g0012 a0001c0004t0002g0011	3	204	0.0147	403	c.240 others(422): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCA TTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(396): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 NA19240.hp1 HG01109.hp2 HG01891.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021	a0001c0001t0002g0146 a0001c0001t0003g0145 a0001c0001t0021g0148 a0001c0001t0002g0146 a0001c0001t0003g0145 a0001c0001t0021g0148	3	204	0.0147	403	c.240 others(422): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCCTCAGAGCTGGGCTGTGG TTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTCATTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(396): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	204	0.0049	403	c.240 others(422): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GALNT9_chr12_132191372_132334589	132241396	C C	CCTTCCAG others(396): Show CCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTC CCTTGGCCGTCCCTATACCCATTACACACACGCCACACCACCTTCCCGGG GCCCTCCCTATACCCATTACACACACGCCACACACCCTTACAGGGGCCCT CCCTATACCCATTACACACACGCCACACCCCCTTCCTGGGGACCTCCCTA TACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATACCC ATTACACACACGCCACACCCCCTTCCCAGGGACCTCCCTATCCCCATTAC ACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTAAACACA CAACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACAACA CACA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19091.hp2 NA18999.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0002t0001g0063 a0001c0001t0001g0019 a0001c0002t0001g0063	2	183	0.0109	403	c.107 others(422): Show c.1077+6513_1077+6514insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCC TGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGGG GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTG TGTGTAATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCTGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241531	C C	CCTTCCCT others(396): Show CCTTCCCTTGGCCGTCCCTATACCCATTACACACACGCCACACCACCTTC CCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTACAGGG GCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCTGGGGACCT CCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTA TACCCATTACACACACGCCACACCCCCTTCCCAGGGACCTCCCTATCCCC ATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTAA ACACACAACACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTAAACACA CAACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACAACA CACA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0121 a0001c0004t0001g0121	1	183	0.0055	403	c.107 others(422): Show c.1077+6378_1077+6379insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCCTGGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGT AATGGGTATAGGGACGGCCAAGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242513	C C	CCACACCC others(396): Show CCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACA CCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACACACCC TTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACTTCCCAG GGCCGTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCC TCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCT ATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACC CATTACACACACAACACACCCCCTTCCCGGGGCCTTCCCTATACCCATTA CACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACAC ACAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	183	0.0055	403	c.107 others(422): Show c.1077+5396_1077+5397insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCC GGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTG TGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGTGTGTGTTGTGTGT GTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAAT GGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGTGTGTGTGTAATGGGTA TAGGGAGGGCCCCGGGAAGGGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GMDS_chr6_1618806_2250605	1897926	C C	CTTGCCAT others(396): Show CTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCT ATCCTGGCCACCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCA TCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGG CCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGA CACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCT TGCCATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTAT CCTGGCCACCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATC CTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCC TCCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	166	0.0060	403	c.771 others(422): Show c.771+32176_771+32177insCGGAGGCCAGGATAGGTGTCCAGGAT GGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATA GGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAACG GAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCC AGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAACGGAGGCCA GGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGG CAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGG TGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGA GGCCAGGATAGGTGTCCAGGATGGCAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898019	C C	CTTGCCAT others(396): Show CTTGCCATACTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCT ATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCA TACTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGG CCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGA CACCTATCCTGGCCACCCTTGCCATCCTGGACACCTATCCTGGCCTCCCT TGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTAT CCTGGCCACCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATC CTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTGGCC TCCG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	166	0.0060	403	c.771 others(422): Show c.771+32083_771+32084insCGGAGGCCAGGATAGGTGTCCAGGAT GGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATA GGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGG GAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCC AGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAACGGAGGCCA GGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGG CAAGGGAGGCCAGGATAGGTGTCCAGTATGGCAAGGGAGGCCAGGATAGG TGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGA GGCCAGGATAGGTGTCCAGTATGGCAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GPBP1_chr5_57169059_57269673	57249840	C C	CCCGTCCT others(396): Show CCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTT CCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCC CTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCC TTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTT CCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCCTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCT CCTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	290	0.0035	403	c.972 others(418): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTT CCCCCTTCCCCCCCCCTCCTTCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249840	C C	CCCGTCCT others(396): Show CCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTT CCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCC CTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCC TTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTT CCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTC CTTCCCCTTTCCCCCTTCCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCT CCTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	290	0.0035	403	c.972 others(418): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCCTCCCCTCCTT CCCCCTTCCCCCCCCCTCCTTCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPIHBP1_chr8_143208218_143222170	143218228	C C	CCCCCACA others(396): Show CCCCCACACCACCCCCACACCACCCCCACACCACCCCCACACCACCCCCA ACACCACCCCAACACCATCCCCACACCATCCCCAACACCACCCCCACACC ACCCCCACACCATCCCCCCCCCACCACCCCAACACCACCCCACACCCCAA CCCCCCAACACCCCCCACCACCACCACCACACCACCCACCCCACACCACC CCCACACCACCCCCACACCCCCCCAACACCACCACCAACACCACCACAAC ACCATCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACAC CCCAATAACCCCCCAACACCACCACCAACACCACCACAACACCATCCCCA ACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACA CCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0011 a0001c0001t0015g0011	1	106	0.0094	403	c.27 others(414): Show c.2710_*2711insCCCCACACCACCCCCACACCACCCCCACACCACC CCCACACCACCCCCAACACCACCCCAACACCATCCCCACACCATCCCCAA CACCACCCCCACACCACCCCCACACCATCCCCCCCCCACCACCCCAACAC CACCCCACACCCCAACCCCCCAACACCCCCCACCACCACCACCACACCAC CCACCCCACACCACCCCCACACCACCCCCACACCCCCCCAACACCACCAC CAACACCACCACAACACCATCCCCAACACCACCCCCAACACCACCCCCAA CACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAACACCACC ACAACACCATCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCA ACACCATCCCCAACACCAT	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1059		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143218244	C C	CAACACCA others(396): Show CAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAA CACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAACACCACC CCCAACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCC CAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCA ACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAAC ACCACCCCCAACACCATCCCCAACACCACCCCCAACACCATCCCCAACAC CACCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACC CCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	106	0.0094	403	c.27 others(414): Show c.2726_*2727insAACACCACCCCCAACACCACCCCAACACCACCCC CAACACCATCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACC ACCACCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCAC CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCATCC CCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCC AACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAA CACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACC ATCCCCAACACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1075		chr8	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(396): Show TTTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAA AATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATAT TTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACAC TGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATA TATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTA TATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG00733.hp2 others(14): Show HG00438.hp1 HG00642.hp2 HG00733.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG02132.hp2 HG02145.hp1 HG02922.hp1 HG03041.hp1 HG03688.hp1 NA18522.hp1 NA18954.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0001t0027 a0001c0001t0035 a0001c0001t0039 a0001c0001t0054 a0001c0001t0063 a0001c0001t0066 a0001c0005t0007	a0001c0001t0001g0051 a0001c0001t0001g0123 a0001c0001t0003g0045 others(14): Show a0001c0001t0001g0051 a0001c0001t0001g0123 a0001c0001t0003g0045 a0001c0001t0006g0125 a0001c0001t0010g0055 a0001c0001t0013g0059 a0001c0001t0013g0080 a0001c0001t0017g0025 a0001c0001t0020g0166 a0001c0001t0025g0050 a0001c0001t0027g0001 a0001c0001t0035g0046 a0001c0001t0039g0003 a0001c0001t0054g0012 a0001c0001t0063g0124 a0001c0001t0066g0084 a0001c0005t0007g0103	17	168	0.1012	403	c.132 others(422): Show c.1328+1006_1328+1007insTATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTT AAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTA TTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATA TAAAACAGTGTATTTTATATATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRIN2A_chr16_9748408_10187428	9849077	C C	CACTGTTT others(396): Show CACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAA ATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTT TTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATA AAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATA TTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACA CTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAAT ATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTT ATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAA ATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp2 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0003 a0001c0001t0028	a0001c0001t0003g0007 a0001c0001t0028g0002 a0001c0001t0003g0007 a0001c0001t0028g0002	2	168	0.0119	403	c.132 others(420): Show c.1328+678_1328+679insATATTTTATATATTTAAATATATAAAAC AGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTA AATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTAT TTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATAT AAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATAT ATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAG TGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAA TATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTT TATATATTTAAATATATAAAACAGT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRIN2A_chr16_9748408_10187428	9849139	C C	CACTGTTT others(396): Show CACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAA ATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTT TTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATA AAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATA TTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACA CTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAAT ATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTT ATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAA ATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0021 a0001c0001t0042g0021	1	168	0.0060	403	c.132 others(420): Show c.1328+616_1328+617insATATTTTATATATTTAAATATATAAAAC AGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTA AATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTAT TTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATAT AAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATAT ATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAG TGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAA TATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTT TATATATTTAAATATATAAAACAGT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRIN2A_chr16_9748408_10187428	9849139	C C	CACTGTTT others(396): Show CACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAA ATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTT TTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATA AAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATA TTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACA CTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAAT ATATAAAATACACTGTTTTATATATTTAAATATATAAAATATACTGTTTT ATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAA ATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0083 a0001c0001t0023g0083	1	168	0.0060	403	c.132 others(420): Show c.1328+616_1328+617insATATTTTATATATTTAAATATATAAAAC AGTGTATTTTATATATTTAAATATATAAAACAGTATATTTTATATATTTA AATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTAT TTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATAT AAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATAT ATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAG TGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAA TATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTT TATATATTTAAATATATAAAACAGT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(396): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02055.hp2 HG03579.hp2 others(3): Show HG00323.hp2 HG02055.hp2 HG03579.hp2 NA18950.hp2 NA19082.hp2 NA21309.hp2	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0003 a0006c0006 a0007c0007 a0003c0003 a0006c0006 a0007c0007	a0003c0003t0002 a0003c0003t0005 a0006c0006t0002 others(1): Show a0003c0003t0002 a0003c0003t0005 a0006c0006t0002 a0007c0007t0002	a0003c0003t0002g0181 a0003c0003t0002g0187 a0003c0003t0002g0243 others(3): Show a0003c0003t0002g0181 a0003c0003t0002g0187 a0003c0003t0002g0243 a0003c0003t0005g0016 a0006c0006t0002g0175 a0007c0007t0002g0191	6	268	0.0224	403	c.-28 others(414): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
H4C11_chr6_27819092_27829480	27827056	G G	GCTGGCCG others(396): Show GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGACGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGATTCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGACCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGGCTGATCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	403	c.26 others(414): Show c.2620_*2621insCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGACGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATTCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCAGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGG CGGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGT	H4C11	ENSG00000197238.5	transcript	ENST00000355057.3	protein_coding		2577		chr6	TogoVar
H4C12_chr6_27826174_27836560	27827056	G G	GCTGGCCG others(396): Show GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGACGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGATTCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGACCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGGCTGATCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	403	c.41 others(414): Show c.4159_*4160insACGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCC GTCCGGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA ATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGTCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAG	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		4117		chr6	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(396): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATATTATATTATATATAATATATTTTATATAATATATAAT ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATAATATATAATATATATTATATTATAT ATAATATATTTTATATAATATATAATATATATTATATTATATATAATATA TTTTATATAATATATAATATATATTATATTATATATAATATATTTTATAT AATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	314	0.0032	403	c.661 others(420): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATAAAATATATTATATATAATATAATA TATATTATATATTATATAAAATATATTATATATAATATAATATATATTAT ATATTATATAAAATATATTATATATAATATAATATATATTATATATTATA TAAAATATATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
INSR_chr19_7107265_7299414	7131008	A A	AGCTGGGA others(396): Show AGCTGGGATTACAGGCACGCATCACCACGCCCAGCTAATTTTTTTATTTT TAGTAGAAACGGGGTTCCACCATATTAGCCAGGCTGGTCTCAAACTCCTG ACCTCATGATCTACCCACCATGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACTGTGCCCGTCCCCTCTTTCTTTTCTCTCTCTTTCTCTCTTTC TTTCTCTCTCTCTCTTTCCTTCCTTCCTTCCCCCCTCTCTCTCTCTTTCT TTCTTTCCTCTCTGTTTCTCTTTTTTTTTCTTTTTTTTTTTTTGAGACAG GGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCA CTGCAGCCTCTGCCTCCCGGTTCAAGCAATTCTCCCACCTCAGCCTCCCA AGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0004 a0001c0029t0004	a0001c0029t0004g0185 a0001c0029t0004g0185	1	300	0.0033	403	c.284 others(422): Show c.2842+1149_2842+1150insCACTTGGGAGGCTGAGGTGGGAGAAT TGCTTGAACCGGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCACCACTGC ACTCCAGCCTGGGCGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAGA AAAAAAAAGAGAAACAGAGAGGAAAGAAAGAAAGAGAGAGAGAGGGGGGA AGGAAGGAAGGAAAGAGAGAGAGAGAAAGAAAGAGAGAAAGAGAGAGAAA AGAAAGAGGGGACGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCATGGTGGGTAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGG CTAATATGGTGGAACCCCGTTTCTACTAAAAATAAAAAAATTAGCTGGGC GTGGTGATGCGTGCCTGTAATCCCAGC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	14/21			chr19	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(396): Show CTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCT CTCCCCCTCCCCCCTCTCTCTCCCCCTCTCCCCTCCCCCTCTCTCCCCCT CCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCCC CTCTCCCCTCCCACTCCCCCCTATCCCCCTCCCCCCCTCCCCCTCCCCCC ATCCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCC CTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCTCC TTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCTCCCCCCCTCCT TCCCTCTGTCTCTCTCCCCCCCTCCTCTCTCTCTCTCCCCCTCCCTTCCC CCTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	158	0.0063	403	c.11 others(424): Show c.1103+4110_*1103+4111insCCTCCCCCTCTCTCTCCCCCTCCC CCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCTCCCCTCCCCCTCT CTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTC CCCTCCCCCTCTCCCCTCCCACTCCCCCCTATCCCCCTCCCCCCCTCCCC CTCCCCCCATCCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCC CCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCC CCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCTCCC CCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTCTCTCTCTCTCCCCCT CCCTTCCCCCTGTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(396): Show TATAAATATATGAATATATAAAATATATAAATATATAAATATATATAAAT AAATATATAAATATATACAAATATATAAATAAATATATAAATATATAAAT ATAAATATATATTTATAGATATATAGATTTTACGTTTAAAATATATATTT TATAGATTTTATATTTAAAATATATATTTATAGATTTTATATTTAAAAAT ATATTTTATATATTTTATACATAAAATATAATATATAAAATATATAAATC ATATAAAATTTATATTTTATGTATAAATATAAATGAATATAAAAATATAT TATATGTTATATATTATATATTATTATGTTATATATTATATATTATTATA TTATATATATTATAATATGTATTATATTATATATTATATAATATAAAATA TAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03041.hp1 HG02965.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0095 a0001c0001t0028g0096 a0001c0001t0028g0095 a0001c0001t0028g0096	2	389	0.0051	403	c.-51 others(414): Show c.-5160_-5159insATAAATATATGAATATATAAAATATATAAATATA TAAATATATATAAATAAATATATAAATATATACAAATATATAAATAAATA TATAAATATATAAATATAAATATATATTTATAGATATATAGATTTTACGT TTAAAATATATATTTTATAGATTTTATATTTAAAATATATATTTATAGAT TTTATATTTAAAAATATATTTTATATATTTTATACATAAAATATAATATA TAAAATATATAAATCATATAAAATTTATATTTTATGTATAAATATAAATG AATATAAAAATATATTATATGTTATATATTATATATTATTATGTTATATA TTATATATTATTATATTATATATATTATAATATGTATTATATTATATATT ATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNG2_chr18_79792938_79905100	79830880	T T	TACAGAGC others(396): Show TACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGA GGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAG CCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCC CTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGT CAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGA CAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGG GTTCCCTGCGGACAGAGCCTTCGTCAGGAGCGTTCCCTGCGGACAGAGCC TTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCT GCGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	312	0.0032	403	c.-11 others(424): Show c.-114-25170_-114-25169insCGTTCCCTGCGGACAGAGCCTTCG TCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGG ACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAG GGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGC CTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCC TGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTC AGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGAC AGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGG TTCCCTGCGGACAGAGCCTTCGTCAGGAG	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(396): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT AATATATATTATATATATAATTCTATATATAATATATATTATATATAATT CTATATATATAATATATATTATATATATAATTCTATATATATAATATATA TTATATATATAATTCTATATATATAATATATATTATATATAATTCTATAT ATATAATATATATTATATATATATAATTCATATATATAATATATATTATA TATATAATTCTATATATATAATATATATTATATATATAATTATATATATA ATATATATTATATATATAATTCTATATATATAATATATATTATATATATA ATTCTATATATAATATATATTATATATATAATTCTATATATATAATATAT ATTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0063 a0001c0001t0001g0013 a0001c0001t0002g0063	2	80	0.0250	403	c.62- others(422): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATAGAATTATATATATAATATATATTATA TATATAGAATTATATATATAATATATATTATATATATAATTATATATATA ATATATATTATATATATAGAATTATATATATAATATATATTATATATATG AATTATATATATATAATATATATTATATATATAGAATTATATATAATATA TATTATATATATAGAATTATATATATAATATATATTATATATATAGAATT ATATATATAATATATATTATATATATAGAATTATATATAATATATATTAT ATATAGAATTATATATATAATATATATTATATAGAATTATATATATAATA TATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(396): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATAAAATATATATAAAATATATACTATAT AAAATATATATTATATATAAAATATATACTATATATAAAATATATATTAT ATATAAAATATATACTATATATAAAATATATATTATATATAAAATATATA CTATATATAAAATATATAATATATATAATATATATATTATATATAAAATA TATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	260	0.0039	403	c.963 others(422): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATACTATATAAAATATATATTATATATAAAATATATACTATATATA AAATATATATTATATATAAAATATATACTATATATAAAATATATATTATA TATAAAATATATACTATATATAAAATATATAATATATATAATATATATAT TATATATAAAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(396): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATAAAATATATATAAAATATATATTATAT AAAATATATATAAAATATATATTATATAAAATATATATAAAATATATATT ATATAAAATATATATTATATATAAAATATATAATATATATAAAATATATA CTATATATAAAATATATAATATATATAAAATATATACTATATATAAAATA TATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02257.hp2 NA19030.hp1 HG00642.hp2 HG02257.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0233 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0233	3	260	0.0115	403	c.963 others(422): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAAAATATATATTATATATAAAATATATAATATA TATAAAATATATACTATATATAAAATATATAATATATATAAAATATATAC TATATATAAAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(396): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATAAAATATATATAAAATATATATTATAT AAAATATATATTATATATAAAATATATACTATATATAAAATATATATTAT ATATAAAATATATACTATATATAAAATATATATTATATATAAAATATATA CTATATATAAAATATATAATATATATAATATATATATTATATATAAAATA TATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0096 a0001c0001t0067g0096	1	260	0.0039	403	c.963 others(422): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATTATATATAAAATATATACTATATATA AAATATATATTATATATAAAATATATACTATATATAAAATATATATTATA TATAAAATATATACTATATATAAAATATATAATATATATAATATATATAT TATATATAAAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(396): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATAATA TATAAAATATATATTATATATAAAATATATACTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAAAATAT ATAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0112 a0001c0002t0056g0112	1	260	0.0039	403	c.963 others(422): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATAATATATAAAATATATATTATATATAAAATATATACTATA TATAAAATATATACTATATATAAAATATATACTATATATAAAATATATAC TATATATAAAATATATACTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(396): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATAATA TATAAAATATATATTATATATAAAATATATATTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAAAATAT ATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19043.hp2 HG02572.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0057 a0001c0002t0033 a0001c0002t0057	a0001c0002t0033g0151 a0001c0002t0057g0113 a0001c0002t0033g0151 a0001c0002t0057g0113	2	260	0.0077	403	c.963 others(422): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATAATATATAAAATATATATTATATATAAAATATATATTATA TATAAAATATATACTATATATAAAATATATACTATATATAAAATATATAC TATATATAAAATATATACTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)