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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IRAG1_chr11_10568095_10698755	10615935	T T	TAAAAAAA others(310): Show TAAAAAAAAGTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19089.hp2 HG03942.hp1 NA19089.hp2	a0001 a0024 a0001 a0024	a0001c0002 a0024c0035 a0001c0002 a0024c0035	a0001c0002t0002 a0024c0035t0002 a0001c0002t0002 a0024c0035t0002	a0001c0002t0002g0210 a0024c0035t0002g0212 a0001c0002t0002g0210 a0024c0035t0002g0212	2	278	0.0072	317	c.144 others(336): Show c.1448-6085_1448-6084insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTTACTTTTTTTT	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	10/20			chr11	TogoVar
ITGA11_chr15_68291532_68437163	68400885	A A	AAATATTA others(310): Show AAATATTATATTATATATTATATAATAAATATTATATTATATATTATATA ATAAATATTATATTATATATTATATAATAAATATTATATTATATATTATA TAATAAATATTATAATATTATATATTATATAATAAATATTATAATATTAT ATATTATATAATAAATATTATAATATTATATATTATATAATAAATATTAT ATTATATATTATATAATAAATATTATATTATATATTATATAATAAATATT ATATTATATATTATATAATAAATATTATATTATATATTATATAATAAATA TTATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0021 a0001c0034t0021	a0001c0034t0021g0023 a0001c0034t0021g0023	1	242	0.0041	317	c.164 others(334): Show c.164+2032_164+2033insATATATTATATAATATAATATTTATTAT ATAATATATAATATAATATTTATTATATAATATATAATATAATATTTATT ATATAATATATAATATAATATTTATTATATAATATATAATATAATATTTA TTATATAATATATAATATTATAATATTTATTATATAATATATAATATTAT AATATTTATTATATAATATATAATATTATAATATTTATTATATAATATAT AATATAATATTTATTATATAATATATAATATAATATTTATTATATAATAT ATAATATAATATTTATTATATAATATATAATATAATATT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA6_chr2_172422586_172511459	172451994	T T	TCCTCCCT others(310): Show TCCTCCCTTCATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01070.hp2 others(26): Show HG00280.hp1 HG00280.hp2 HG01070.hp2 HG01255.hp1 HG01516.hp2 HG01975.hp2 HG01993.hp2 HG02074.hp1 HG02080.hp2 HG02293.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp1 NA18946.hp1 NA18950.hp1 NA18961.hp1 NA18964.hp2 NA18981.hp1 NA19010.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0002t0002 a0002c0004t0002 others(5): Show a0001c0001t0001 a0001c0002t0002 a0002c0004t0002 a0002c0004t0007 a0002c0005t0002 a0002c0005t0003 a0002c0005t0035 a0002c0005t0037	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0002t0002g0215 others(26): Show a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0002t0002g0215 a0002c0004t0002g0271 a0002c0004t0002g0272 a0002c0004t0007g0220 a0002c0004t0007g0332 a0002c0004t0007g0333 a0002c0004t0007g0334 a0002c0004t0007g0337 a0002c0005t0002g0217 a0002c0005t0003g0041 a0002c0005t0003g0070 a0002c0005t0003g0074 a0002c0005t0003g0076 a0002c0005t0003g0077 a0002c0005t0003g0080 a0002c0005t0003g0087 a0002c0005t0003g0095 a0002c0005t0003g0096 a0002c0005t0003g0102 a0002c0005t0003g0120 a0002c0005t0003g0128 a0002c0005t0003g0266 a0002c0005t0003g0326 a0002c0005t0003g0327 a0002c0005t0003g0329 a0002c0005t0035g0276 a0002c0005t0037g0099	29	352	0.0824	317	c.183 others(336): Show c.183-13530_183-13529insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCTCCCTTCATTTTT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA9_chr3_37447141_37828507	37562940	T T	TAAAACCA others(310): Show TAAAACCATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	168	0.0060	317	c.168 others(338): Show c.1689+20364_1689+20365insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCATA	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAK1_chr1_64828229_64971549	64881262	T T	TAAAAAAT others(310): Show TAAAAAATATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01099.hp2 others(3): Show HG00642.hp2 HG00741.hp2 HG01099.hp2 HG01261.hp2 HG01978.hp2 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0032 a0001c0003t0001g0033 others(3): Show a0001c0003t0001g0021 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0075 a0001c0003t0001g0093	6	326	0.0184	317	c.205 others(334): Show c.205+2014_205+2015insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCGATCTCAGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAAAATTTTAATATTTTTT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24			chr1	TogoVar
JAZF1_chr7_27825577_28185795	28110515	A A	AAAGGAAA others(310): Show AAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAAGGAGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	206	0.0049	317	c.115 others(336): Show c.115+69947_115+69948insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JMY_chr5_79231131_79332211	79269100	T T	TATCTTCT others(310): Show TATCTTCTAGAAGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03139.hp2 HG02280.hp1 HG03139.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0030 a0005c0007t0031 a0005c0007t0030 a0005c0007t0031	a0005c0007t0030g0187 a0005c0007t0031g0186 a0005c0007t0030g0187 a0005c0007t0031g0186	2	342	0.0059	317	c.103 others(336): Show c.1033-8794_1033-8793insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCATCTTCTAGAAGTTTT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
KAT6A_chr8_41924479_42056987	41946748	T T	TAAGAAAC others(310): Show TAAGAAACAAAGACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAGCCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02896.hp1 others(3): Show HG02615.hp2 HG02723.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0007 a0001c0003t0016 a0001c0003t0027 others(1): Show a0001c0003t0007 a0001c0003t0016 a0001c0003t0027 a0004c0007t0007	a0001c0003t0007g0176 a0001c0003t0016g0179 a0001c0003t0027g0175 others(3): Show a0001c0003t0007g0176 a0001c0003t0016g0179 a0001c0003t0027g0175 a0004c0007t0007g0166 a0004c0007t0007g0177 a0004c0007t0007g0178	6	374	0.0160	317	c.190 others(332): Show c.1903-65_1903-64insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGCTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTAGTCTTTGTTTCTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	11/16			chr8	TogoVar
KCNB2_chr8_72532225_72943349	72849150	T T	TGTAATTT others(310): Show TGTAATTTTTTTTTTTTTTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02647.hp2 others(2): Show HG02258.hp1 HG02559.hp1 HG02647.hp2 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0002t0004 a0001c0004t0001 a0001c0001t0004 a0001c0002t0004 a0001c0004t0001	a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0002t0004g0041 others(2): Show a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0002t0004g0041 a0001c0004t0001g0032 a0001c0004t0001g0036	5	164	0.0305	317	c.580 others(336): Show c.580-86773_580-86772insTTTTTTTTTTGTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGTAATTTTTTTT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNJ6_chr21_37602373_37921457	37685517	T T	TAAAAATA others(310): Show TAAAAATACAAAAAATTAGGCCGGGCACGGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02109.hp1 others(4): Show HG01257.hp2 HG01258.hp2 HG02109.hp1 HG02572.hp2 HG02818.hp1 HG03453.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0138 a0001c0001t0166 a0001c0001t0168 others(4): Show a0001c0001t0138 a0001c0001t0166 a0001c0001t0168 a0001c0001t0169 a0001c0002t0143 a0002c0005t0170 a0002c0005t0171	a0001c0001t0138g0019 a0001c0001t0166g0146 a0001c0001t0168g0099 others(4): Show a0001c0001t0138g0019 a0001c0001t0166g0146 a0001c0001t0168g0099 a0001c0001t0169g0166 a0001c0002t0143g0147 a0002c0005t0170g0136 a0002c0005t0171g0135	7	198	0.0354	317	c.946 others(336): Show c.946+28693_946+28694insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCATGAGCCACCGTGCCCGGCCTAATTTTTTGTATTTTT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37685517	T T	TAAAAATA others(310): Show TAAAAATACAAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTATAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00609.hp2 others(25): Show HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01243.hp2 HG01891.hp2 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02622.hp1 HG02809.hp2 HG03017.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp2 NA18963.hp2 NA19012.hp1 NA19055.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp2 NA19085.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0112 a0001c0001t0123 a0001c0001t0125 others(24): Show a0001c0001t0112 a0001c0001t0123 a0001c0001t0125 a0001c0002t0003 a0001c0003t0015 a0001c0003t0048 a0001c0003t0051 a0001c0003t0069 a0001c0003t0079 a0001c0003t0100 a0001c0003t0113 a0001c0003t0114 a0001c0003t0116 a0001c0003t0117 a0001c0003t0120 a0001c0003t0121 a0001c0003t0126 a0001c0003t0127 a0001c0003t0128 a0001c0003t0130 a0001c0003t0131 a0001c0003t0132 a0001c0003t0135 a0001c0004t0007 a0001c0004t0008 a0001c0004t0016 a0001c0004t0154	a0001c0001t0112g0131 a0001c0001t0123g0008 a0001c0001t0125g0026 others(25): Show a0001c0001t0112g0131 a0001c0001t0123g0008 a0001c0001t0125g0026 a0001c0002t0003g0061 a0001c0002t0003g0158 a0001c0003t0015g0182 a0001c0003t0048g0082 a0001c0003t0051g0005 a0001c0003t0069g0112 a0001c0003t0079g0038 a0001c0003t0100g0064 a0001c0003t0113g0071 a0001c0003t0114g0116 a0001c0003t0116g0065 a0001c0003t0117g0177 a0001c0003t0120g0027 a0001c0003t0121g0125 a0001c0003t0126g0035 a0001c0003t0127g0036 a0001c0003t0128g0153 a0001c0003t0130g0185 a0001c0003t0131g0013 a0001c0003t0132g0181 a0001c0003t0135g0122 a0001c0004t0007g0115 a0001c0004t0008g0037 a0001c0004t0016g0186 a0001c0004t0154g0190	28	198	0.1414	317	c.946 others(336): Show c.946+28693_946+28694insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAT AGGCATGAGCCACCGCGCCCGGCCTAATTTTTTGTATTTTT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37685517	T T	TAAAAATA others(310): Show TAAAAATACAAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02109.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0139 a0001c0001t0001 a0001c0001t0139	a0001c0001t0001g0020 a0001c0001t0139g0100 a0001c0001t0001g0020 a0001c0001t0139g0100	2	198	0.0101	317	c.946 others(336): Show c.946+28693_946+28694insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCATGAGCCACCGCGCCCGGCCTAATTTTTTGTATTTTT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37685517	T T	TAAAAATA others(310): Show TAAAAATACAAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0140 a0001c0001t0014g0140	1	198	0.0051	317	c.946 others(336): Show c.946+28693_946+28694insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCATGAGCCACCGCGCCCGGCCTAATTTTTTGTATTTTT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37685523	T T	TACAAAAA others(310): Show TACAAAAAATTAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01358.hp1 HG02559.hp2 others(4): Show HG00741.hp1 HG01358.hp1 HG02559.hp2 HG02717.hp2 HG04115.hp2 HG04199.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0057 a0001c0001t0064 a0001c0001t0067 others(4): Show a0001c0001t0057 a0001c0001t0064 a0001c0001t0067 a0001c0002t0005 a0001c0002t0149 a0001c0002t0153 a0001c0002t0189	a0001c0001t0057g0193 a0001c0001t0064g0101 a0001c0001t0067g0098 others(4): Show a0001c0001t0057g0193 a0001c0001t0064g0101 a0001c0001t0067g0098 a0001c0002t0005g0127 a0001c0002t0149g0066 a0001c0002t0153g0096 a0001c0002t0189g0197	7	198	0.0354	317	c.946 others(336): Show c.946+28687_946+28688insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCATGAGCCACCGTGCCCGGCCTAATTTTTTGT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178758770	T T	TATATATA others(310): Show TATATATATATATATCTCCTCTAGGAGAGATATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATATCTCCTCTAGGAGATA TATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGA GATATATATATATATCTCCAAGAGGAGATATATATATATATATATCTCCA AGAGGAGATATATATATATATATATATCTCCAAGAGGAGATATATATATA TATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	232	0.0043	317	c.-67 others(336): Show c.-67-48559_-67-48558insCTCCTCTAGGAGAGATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTC TAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGAT ATATATATATATATATCTCCAAGAGGGATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM6A_chrX_44868188_45117779	45048879	A A	ACTCAAGT others(310): Show ACTCAAGTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	199	0.0050	317	c.655 others(334): Show c.655-2814_655-2813insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCAAGTTACTTTTTT	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KDR_chr4_55073481_55130595	55126939	T T	TCCAAGCA others(310): Show TCCAAGCAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0078 a0003c0003t0002g0078	1	398	0.0025	317	c.-16 others(328): Show c.-1647_-1646insGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAATCTGCTTGG	KDR	ENSG00000128052.10	transcript	ENST00000263923.5	protein_coding		1345		chr4	TogoVar
KIAA0753_chr17_6573147_6645711	6635337	T T	TAAAAGCA others(310): Show TAAAAGCAACCACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG01074.hp1 others(75): Show HG00639.hp1 HG00673.hp1 HG01074.hp1 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01258.hp1 HG01884.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19001.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19054.hp1 NA19057.hp1 NA19068.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2	a0002 a0010 a0012 a0002 a0010 a0012	a0002c0002 a0010c0022 a0012c0017 a0002c0002 a0010c0022 a0012c0017	a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 others(2): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0010c0022t0002 a0012c0017t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 others(63): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0162 a0002c0002t0002g0167 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0337 a0002c0002t0002g0344 a0002c0002t0003g0168 a0002c0002t0014g0208 a0010c0022t0002g0166 a0012c0017t0002g0193	78	370	0.2108	317	c.-68 others(332): Show c.-68-167_-68-166insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGTGTGGTTGCTTTT	KIAA0753	ENSG00000198920.11	transcript	ENST00000361413.8	protein_coding	1/18			chr17	TogoVar
KIAA0825_chr5_94145851_94623604	94608474	A A	ATATTATA others(310): Show ATATTATATATATAATATATATTATATATATAATATATATAATATATATA AAATATATATATTATATATATAATATATATTATATATATAATATATATAT TTTATATATATTATATATATAAAATATATATATTATATATATAATATATA TTATATATAATATATATATTTTATATATATAATATATATTATATATATAA TATATATATTATATATAATATATATTATATATATAAAATATATATATTAT ATATATAATATATATTATATATATATATATATATATTATATATATAATAT ATATATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0004 a0001c0001t0038g0004	1	54	0.0185	317	c.-15 others(338): Show c.-153+10025_-153+10026insATTATATATATAATATATATATTA TATATATAATATATATATATATATATATAATATATATTATATATATAATA TATATATTTTATATATATAATATATATTATATATAATATATATATTATAT ATATAATATATATTATATATATAAAATATATATATTATATATAATATATA TTATATATATAATATATATATTTTATATATATAATATATATAAAATATAT ATATTATATATATAATATATATTATATATATAATATATATATTTTATATA TATTATATATATTATATATATAATATATATTATATATATAATA	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIAA0930_chr22_45187244_45245894	45228896	C C	CCCCCACC others(310): Show CCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCACACCACCACTCA CCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGA TCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCC ACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCC ATCACCACTCACCTGAAAGATTCCTCTCCACCCCCGCCACCACCACTCAC CCGAAAGATTCCTCTCCACCCCCGCCACCACCACTCACCCTAAAGATCCC TCCCCATCCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	398	0.0025	317	c.64+ others(334): Show c.64+11743_64+11744insTGGGGGGGGGGATGGGGAGGGATCTTTA GGGTGAGTGGTGGTGGCGGGGGTGGAGAGGAATCTTTCGGGTGAGTGGTG GTGGCGGGGGTGGAGAGGAATCTTTCAGGTGAGTGGTGATGGCGGGGGTG GAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGAT CTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGT GAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229320	T T	TCCCCACC others(310): Show TCCCCACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAA ACACTCACCCGAAAGATCCCTCCCCATCCCCCCCACCACCAAACACTCAC CCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACTTGAGAGATCCCT CTCCACCCCCGCCATCACCACTCACCTGAAAGATCCCTCTCCACATCCCC ACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAAACACT CACCCGAAAGATCCCTCTCCATGCCCCCCCACCACCAAACACTCACCTGA AAGATCCCTCTCCACCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02630.hp1 others(1): Show HG02055.hp1 HG02572.hp2 HG02630.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0127 a0001c0001t0003 a0001c0001t0013 a0001c0001t0127	a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0013g0319 others(1): Show a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0013g0319 a0001c0001t0127g0277	4	398	0.0101	317	c.64+ others(334): Show c.64+11319_64+11320insGGGGTGGAGAGGGATCTTTCAGGTGAGT GTTTGGTGGTGGGGGGGCATGGAGAGGGATCTTTCGGGTGAGTGTTTAGT GGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGGTGGTGGGGATGTGG AGAGGGATCTTTCAGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCT CAAGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTT GGTGGTGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGG GGGGGTGGAGAGGGATCTTTCAGGTGAGTGGTGGTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF14_chr1_200546500_200625751	200607057	T T	TAAAAAAC others(310): Show TAAAAAACTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCG GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCTACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	390	0.0026	317	c.155 others(334): Show c.1555-260_1555-259insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGCAGTTTTTT	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding	5/29			chr1	TogoVar
KIF25_chr6_167992671_168050091	167997508	G G	GGGGGCGG others(310): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATAGG GTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGGTGGGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCG ACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03225.hp1 HG03453.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0007 a0003c0004 a0005c0007	a0003c0004t0010 a0005c0007t0010 a0003c0004t0010 a0005c0007t0010	a0003c0004t0010g0018 a0005c0007t0010g0019 a0003c0004t0010g0018 a0005c0007t0010g0019	2	375	0.0053	317	c.-19 others(328): Show c.-1961_-1960insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGA ATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		162		chr6	TogoVar
KIFBP_chr10_68983803_69021982	69014672	A A	ACCCTATT others(310): Show ACCCTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01943.hp2 HG01074.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0056 a0001c0001t0001g0057	2	408	0.0049	317	c.991 others(332): Show c.991-858_991-857insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCCCTATTTCTT	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIFBP_chr10_68983803_69021982	69014672	A A	ACCCTATT others(310): Show ACCCTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG02129.hp2 others(1): Show HG01081.hp2 HG01346.hp1 HG02129.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0055	4	408	0.0098	317	c.991 others(332): Show c.991-858_991-857insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCCCTATTTCTT	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KLHL2_chr4_165202561_165328147	165269621	T T	TAAGAATG others(310): Show TAAGAATGTCGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	254	0.0039	317	c.544 others(334): Show c.544+6273_544+6274insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGTCGA	KLHL2	ENSG00000109466.14	transcript	ENST00000226725.11	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
KNSTRN_chr15_40377721_40399288	40380648	G G	GCCATTTT others(310): Show GCCATTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG03669.hp2 HG01192.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0072 a0002c0002t0001g0006 a0002c0002t0001g0072	2	374	0.0054	317	c.-21 others(328): Show c.-2188_-2187insCCATTTTTTTGTATTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	KNSTRN	ENSG00000128944.14	transcript	ENST00000249776.13	protein_coding		2072		chr15	TogoVar
KRT81_chr12_52280913_52296534	52291701	T T	TAAAAGAT others(310): Show TAAAAGATGTCAGTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0038 a0003c0004t0001g0038	1	454	0.0022	317	c.-23 others(326): Show c.-237_-236insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAAGACTGACATCTTTT	KRT81	ENSG00000205426.11	transcript	ENST00000327741.9	protein_coding		168		chr12	TogoVar
KRT86_chr12_52269645_52314163	52291701	T T	TAAAAGAT others(310): Show TAAAAGATGTCAGTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0244 a0001c0002t0003g0244	1	414	0.0024	317	c.-4- others(334): Show c.-4-10194_-4-10193insCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAGATGTCAGTCTTGG	KRT86	ENSG00000170442.12	transcript	ENST00000423955.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
KRTAP11-1_chr21_30875644_30886580	30883679	C C	CAAAAAAT others(310): Show CAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03225.hp1 NA18906.hp2 HG02257.hp1 HG03225.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0000 a0004c0004t0001g0000 a0001c0001t0001g0000 a0004c0004t0001g0000	3	454	0.0066	317	c.-21 others(328): Show c.-2156_-2155insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTAATTTTTT	KRTAP11-1	ENSG00000182591.6	transcript	ENST00000332378.6	protein_coding		2100		chr21	TogoVar
LAMA5_chr20_62304065_62372312	62349677	A A	ATGGGGGT others(310): Show ATGGGGGTGATGATGGTGATGGTGGGGGTGATGGTGATGATGGTGATGGT GATGGTGATGGTGATGGTGATGGTGATGGTGGGGGTGGTGATGGTGGGGG TGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTG ATGACGGTGGGGCTGGGGGTGATGACGGTGATGATGGGGGTGGGGGGGGT GATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGG GGGTGATGACGGTGATGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0026 a0026	a0026c0060 a0026c0060	a0026c0060t0001 a0026c0060t0001	a0026c0060t0001g0051 a0026c0060t0001g0051	1	186	0.0054	317	c.956 others(334): Show c.956+2026_956+2027insCCATCACCGTCATCACCCCCACCATCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCCCA CCCCCATCATCACCGTCATCACCCCCAGCCCCACCGTCATCACCCCCACC ATCACCATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACCAT CACCACCCCCACCATCACCATCACCATCACCATCACCATCACCATCACCA TCATCACCATCACCCCCACCATCACCATCATCACCCCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LEPR_chr1_65415668_65646559	65590243	T T	TAAAATTA others(310): Show TAAAATTATTCATATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTA GCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp2 HG02559.hp2 HG03195.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0015 a0003c0011t0019 a0003c0011t0015 a0003c0011t0019	a0003c0011t0015g0103 a0003c0011t0019g0192 a0003c0011t0015g0103 a0003c0011t0019g0192	2	216	0.0093	317	c.495 others(334): Show c.495-2399_495-2398insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAA AAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGT CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAATTATTCATATT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124506998	G G	GAGGATTT others(310): Show GAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAG AGGATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACA GGATTTCAGGTGGGGGGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGTAGACAGG ATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGGAGGGTAGAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	260	0.0039	317	c.624 others(334): Show c.624+8882_624+8883insGCAGGGGTAGACAGGATTTCAGGTCGGG GGGTTAGAGAGGATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGG GGATAGACAGGATTTCAGGTGGGGGGATAGGGAAGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGG GTAGACAGGATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507402	G G	GTGGAGGG others(310): Show GTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGG GGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGG GGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGATGTGGAGG GTAGACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	260	0.0039	317	c.624 others(334): Show c.624+9274_624+9275insTGGAGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGAGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAG GGAGGATTTCAGATGTGGAGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507698	G G	GGGGGGGT others(310): Show GGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGGTAGGGAGGATTTCAGGTCGGTGGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTCGGTGGGGTAGACAGGATTTCAGGTGGG GGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	260	0.0039	317	c.625 others(334): Show c.625-9482_625-9481insGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGTGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGTGGG GTAGACAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTA GGCAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTC	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LIPH_chr3_185501262_185557588	185544949	T T	TTCTGTTG others(310): Show TTCTGTTGGTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00673.hp1 others(44): Show HG00423.hp1 HG00597.hp2 HG00673.hp1 HG01099.hp1 HG01109.hp1 HG01981.hp1 HG02080.hp1 HG02129.hp1 HG02165.hp1 HG02602.hp2 HG02698.hp1 HG03017.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19063.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0029 a0001c0002t0001	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0012 others(43): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0030 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0005g0025 a0001c0001t0005g0032 a0001c0001t0005g0046 a0001c0001t0006g0005 a0001c0001t0006g0036 a0001c0001t0007g0015 a0001c0001t0007g0039 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0008g0041 a0001c0001t0010g0023 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0010g0049 a0001c0001t0011g0026 a0001c0001t0012g0050 a0001c0001t0029g0047 a0001c0002t0001g0009 a0001c0002t0001g0010	47	358	0.1313	317	c.49+ others(332): Show c.49+7473_49+7474insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAGAAATACCAACAGA	LIPH	ENSG00000163898.10	transcript	ENST00000296252.9	protein_coding	1/9			chr3	TogoVar
LMO7_chr13_75631330_75864866	75705912	T T	TAAAGGAT others(310): Show TAAAGGATGTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0134 a0002c0003t0002g0134	1	272	0.0037	317	c.70- others(332): Show c.70-7258_70-7257insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAGGATGTTGC	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC122526780_chr17_6631780_6645316	6635337	T T	TAAAAGCA others(310): Show TAAAAGCAACCACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG01074.hp1 others(77): Show HG00639.hp2 HG00673.hp2 HG01074.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01258.hp2 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03491.hp1 HG03579.hp1 HG03704.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18999.hp2 NA19001.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp2 NA19054.hp1 NA19057.hp2 NA19068.hp2 NA19083.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0002 a0010 a0017 a0002 a0010 a0017	a0002c0002 a0002c0013 a0010c0009 others(1): Show a0002c0002 a0002c0013 a0010c0009 a0017c0024	a0002c0002t0000 a0002c0013t0000 a0010c0009t0000 others(1): Show a0002c0002t0000 a0002c0013t0000 a0010c0009t0000 a0017c0024t0000	a0002c0002t0000g0000 a0002c0013t0000g0000 a0010c0009t0000g0000 others(1): Show a0002c0002t0000g0000 a0002c0013t0000g0000 a0010c0009t0000g0000 a0017c0024t0000g0000	80	428	0.1869	317	c.14 others(328): Show c.1442_*1443insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGTGTGGTTGCTTTT	LOC122526780	ENSG00000282936.3	transcript	ENST00000713584.1	protein_coding		1442		chr17	TogoVar
LRRC27_chr10_132327193_132386508	132364346	A A	ACATCTAC others(310): Show ACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCAC GCCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACGCCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACGCCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCGCACTTACACCCACCCTTACATCTACCTCCACACCCGC ACTTACACCCACCCTTAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	290	0.0035	317	c.129 others(336): Show c.1290-1078_1290-1077insCATCTACCTCCACACCCGCGCTTACA CCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACC CTTACATCTACCTCCACACCCGCACTTACACCCACCCTTAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364576	C C	CTTACACC others(310): Show CTTACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCACAC TTACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCACACT TACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCACA CTTACACCCACCCTTACA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	290	0.0035	317	c.129 others(334): Show c.1290-848_1290-847insTTACACCCACCCTTACATCTACCACACC CACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCACACCC ACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCACACCCA CACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACC CACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCACAC CCACACTTACACCCACCCACACTTACACCCACCCTTACA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364576	C C	CTTACACC others(310): Show CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACC CACACTTACACCCACGCTTACATCTACCTCCACACCCGCACTCACACCCA CCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACAATTACACC CACCCACACTTACACCTACGCTTACATCTACCTCCACACCCACACTCACA CCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTA CACTCATGCTTACATCTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0247 a0001c0002t0016g0247	1	290	0.0035	317	c.129 others(334): Show c.1290-848_1290-847insTTACACCCACGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCGCACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACGCCCACAATTACACCCACCCACACTTACACCTACGCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTTACACTCATGCTTACATCTA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LRRC4C_chr11_40109209_41464652	40705531	T T	TGAACTCA others(310): Show TGAACTCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 NA18989.hp1 HG02622.hp2 HG03098.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0002g0034 a0001c0002t0001g0024 a0001c0001t0001g0003 a0001c0001t0002g0034 a0001c0002t0001g0024	3	48	0.0625	317	c.-40 others(338): Show c.-406-57254_-406-57253insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGAGTTC	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6			chr11	TogoVar
LRRC7_chr1_69562922_70149364	69627862	T T	TAAGATAA others(310): Show TAAGATAAAGATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02735.hp1 HG02895.hp1 others(1): Show HG00738.hp1 HG02735.hp1 HG02895.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0066 a0001c0001t0067 others(1): Show a0001c0001t0026 a0001c0001t0066 a0001c0001t0067 a0001c0001t0078	a0001c0001t0026g0029 a0001c0001t0066g0073 a0001c0001t0067g0075 others(1): Show a0001c0001t0026g0029 a0001c0001t0066g0073 a0001c0001t0067g0075 a0001c0001t0078g0076	4	108	0.0370	317	c.3-5 others(332): Show c.3-50507_3-50506insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAGATAAAGATC	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39211990	T T	TAATAGTG others(310): Show TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0028 a0028	a0028c0050 a0028c0050	a0028c0050t0008 a0028c0050t0008	a0028c0050t0008g0233 a0028c0050t0008g0233	1	246	0.0041	317	c.109 others(334): Show c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAATAGTGGGTGAT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	1/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39211990	T T	TAATAGTG others(310): Show TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02145.hp2 NA19043.hp2 HG00642.hp1 HG02145.hp2 NA19043.hp2	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0025 a0005c0008 a0008c0010 a0002c0025 a0005c0008 a0008c0010	a0002c0025t0001 a0005c0008t0001 a0008c0010t0001 a0002c0025t0001 a0005c0008t0001 a0008c0010t0001	a0002c0025t0001g0191 a0005c0008t0001g0207 a0008c0010t0001g0208 a0002c0025t0001g0191 a0005c0008t0001g0207 a0008c0010t0001g0208	3	246	0.0122	317	c.109 others(334): Show c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAATAGTGGGTGAT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	1/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAEA_chr4_1284891_1345137	1334129	A A	ATGCCCAC others(310): Show ATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCA CCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATG CCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCCCACCC CTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCACCCCCATGC CCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCAT GCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCC ACCGTGTGCTCACCCCTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	388	0.0026	317	c.765 others(334): Show c.765+1278_765+1279insCCACCCCTGCACCCACCCCCATGCCCGT GTGCCCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCA TCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTG CCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCACC CCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCA CCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCC CATGCCCACCGTGTGCTCACCCCTGTGCCCACCATGTGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(310): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCACCAT CACCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0031 a0031	a0031c0063 a0031c0063	a0031c0063t0001 a0031c0063t0001	a0031c0063t0001g0256 a0031c0063t0001g0256	1	362	0.0028	317	c.391 others(332): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MARCHF6_chr5_10348695_10445388	10422715	T T	TAAAGAAA others(310): Show TAAAGAAATGGGAACATTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0163 a0001c0004t0163	a0001c0004t0163g0163 a0001c0004t0163g0163	1	284	0.0035	317	c.228 others(336): Show c.2284-1002_2284-1001insAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAGAAATGGGAACATTG	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
MBOAT1_chr6_20094684_20217469	20168889	T T	TACAAATA others(310): Show TACAAATATCATGGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0095 a0001c0001t0023g0095	1	336	0.0030	317	c.100 others(336): Show c.100-16121_100-16120insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCCGCCCATGATATTTGT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBP_chr18_76973833_77137783	77130397	T T	TAAAAAAT others(310): Show TAAAAAATGAAGATATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0225 a0001c0001t0041g0225	1	396	0.0025	317	c.-26 others(334): Show c.-26+2182_-26+2183insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCATATCTTCATTTTTT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar

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Search Results (Total: 10000 hits)