Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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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
KCNQ2_chr20_63395208_63477655	63442731	C C	CCATCACC others(245): Show CCATCACCACCACCACCACCACCATCACCACCATCACCACCATCACCACC ACCACCACCATCACCACCATCACCATCACCACCATCACCATCACCACCAT CACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCA CCACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCACC ACCATCACCACCATCACCACCACCATCACCATCACCACCACCATCACCAT TAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0173 a0001c0002t0072g0173	1	330	0.0030	252	c.691 others(267): Show c.691-201_691-200insATAATGGTGATGGTGGTGGTGATGGTGATG GTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGT GATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGG TGGTAATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATG GTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGAT GGTGGTGGTGGTGGTGGTGATG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45228896	C C	CCAACCAC others(245): Show CCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACC AAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCA CCTGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGA TCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCC ACCCCCCAACCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAA CCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00438.hp2 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0080 a0001c0001t0018 a0001c0001t0080	a0001c0001t0018g0047 a0001c0001t0080g0344 a0001c0001t0018g0047 a0001c0001t0080g0344	2	398	0.0050	252	c.64+ others(269): Show c.64+11743_64+11744insTGGTTGGGGGGTGGAGAGGGATCTCTCG GGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGT TTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTT GGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGG AGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATC TCTCAGGTGAGTGTTTGGTGGTTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112525967	T T	TTCTCCTT others(245): Show TTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTT CTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCT TCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0007 a0001c0002t0023g0007	1	308	0.0033	252	c.-25 others(271): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCT CTTCTTCTTCCTCTTCTTCTTCCTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(245): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCG CTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0248 a0002c0002t0013g0248	1	375	0.0027	252	c.317 others(269): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGG GGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(245): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0134 a0002c0002t0003g0134	1	375	0.0027	252	c.317 others(269): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(245): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGCGGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0076 a0002c0002t0003g0076	1	375	0.0027	252	c.317 others(269): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGGAACGGCGCTGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGG GGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(245): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTG CGGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18978.hp1 HG02738.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0031 a0002c0002t0003g0326 a0002c0002t0003g0031 a0002c0002t0003g0326	2	375	0.0053	252	c.317 others(269): Show c.317+1409_317+1410insGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGG GGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(245): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGC TGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGC GGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCT GCG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0100 a0002c0002t0022g0100	1	375	0.0027	252	c.317 others(269): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGGGGGGGG GCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCG GGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGG GAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGG CGGGAACGGCGCTGCGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(245): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCG CTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCT GCG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0351 a0002c0002t0005g0351	1	375	0.0027	252	c.317 others(269): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGGGGGGGG GGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGG CGGGAACGGCGCTGCGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26A_chr14_104133587_104185894	104153599	C C	CGAACCCC others(245): Show CGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGT GCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTG GCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGA GCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp2 HG06807.hp2 HG03139.hp1 HG03209.hp2 HG06807.hp2	a0001 a0003 a0033 a0001 a0003 a0033	a0001c0017 a0003c0012 a0033c0077 a0001c0017 a0003c0012 a0033c0077	a0001c0017t0001 a0003c0012t0002 a0033c0077t0003 a0001c0017t0001 a0003c0012t0002 a0033c0077t0003	a0001c0017t0001g0046 a0003c0012t0002g0047 a0033c0077t0003g0012 a0001c0017t0001g0046 a0003c0012t0002g0047 a0033c0077t0003g0012	3	374	0.0080	252	c.735 others(269): Show c.735+1155_735+1156insCGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCT CCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCC CAGAGCTGAACCCCACCCTTGCCA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIF26A_chr14_104133587_104185894	104153599	C C	CGAACCCC others(245): Show CGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGT GCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTG GCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGA GCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01167.hp1 others(11): Show HG01074.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02809.hp2 HG02895.hp1 HG03098.hp1 HG03098.hp2 HG03540.hp2 NA18522.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0023	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0015 a0001c0017 a0002c0084 a0008c0016 a0023c0041	a0001c0001t0011 a0001c0002t0003 a0001c0002t0007 others(9): Show a0001c0001t0011 a0001c0002t0003 a0001c0002t0007 a0001c0004t0019 a0001c0008t0016 a0001c0009t0001 a0001c0009t0020 a0001c0015t0002 a0001c0017t0007 a0002c0084t0019 a0008c0016t0028 a0023c0041t0009	a0001c0001t0011g0359 a0001c0002t0003g0082 a0001c0002t0007g0049 others(11): Show a0001c0001t0011g0359 a0001c0002t0003g0082 a0001c0002t0007g0049 a0001c0002t0007g0050 a0001c0004t0019g0002 a0001c0008t0016g0025 a0001c0009t0001g0052 a0001c0009t0020g0053 a0001c0009t0020g0054 a0001c0015t0002g0048 a0001c0017t0007g0083 a0002c0084t0019g0002 a0008c0016t0028g0024 a0023c0041t0009g0051	14	374	0.0374	252	c.735 others(269): Show c.735+1155_735+1156insCGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCT CCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCC CAGAGCTGAACCCCACCCTTGCCA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIF27_chr9_83829099_83926432	83848109	C C	CATATATC others(245): Show CATATATCTGATATATATGATATATCATATATCTGATATATATGATATAT CATATATCTGATATATCTGATATATCATATATCTGATATATCTGATATAT CATATATCTGATATATCTGATATATCATATATCTGATATATCTGATATAT CATATATCTGATATATCTGATATATCATATATCTGATATATCTGATATAT CATATATCTGATATATCTGATATATCATATATCTGATATATCTGATATAT CAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0311 a0001c0002t0001g0311	1	346	0.0029	252	c.355 others(271): Show c.3556+1989_3556+1990insATGATATATCAGATATATCAGATATA TGATATATCAGATATATCAGATATATGATATATCAGATATATCAGATATA TGATATATCAGATATATCAGATATATGATATATCAGATATATCAGATATA TGATATATCAGATATATCAGATATATGATATATCAGATATATCAGATATA TGATATATCAGATATATCAGATATATGATATATCATATATATCAGATATA TGATATATCATATATATCAGATATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(245): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATAT ACGTATGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATAT GTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0134 a0001c0001t0079g0134	1	400	0.0025	252	c.37 others(261): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATA TATGTGTATATATACGTATGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTA TGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(245): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATAT GTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00673.hp1 HG01106.hp1 others(41): Show HG00323.hp1 HG00673.hp1 HG01106.hp1 HG01123.hp1 HG01255.hp2 HG01516.hp1 HG01943.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02738.hp2 HG03017.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 NA18942.hp2 NA18945.hp2 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18995.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19064.hp2 NA19070.hp2 NA19079.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0036 others(9): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0036 a0001c0001t0040 a0001c0001t0053 a0001c0001t0061 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0081 a0001c0001t0104 a0001c0001t0143	a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 others(38): Show a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0166 a0001c0001t0010g0001 a0001c0001t0010g0002 a0001c0001t0010g0219 a0001c0001t0010g0227 a0001c0001t0010g0235 a0001c0001t0036g0102 a0001c0001t0036g0149 a0001c0001t0040g0006 a0001c0001t0040g0287 a0001c0001t0053g0006 a0001c0001t0061g0157 a0001c0001t0069g0104 a0001c0001t0070g0141 a0001c0001t0071g0122 a0001c0001t0081g0130 a0001c0001t0104g0031 a0001c0001t0143g0148	44	400	0.1100	252	c.37 others(261): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTA TGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(245): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATAT ACGTATGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATAT GTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp1 NA18966.hp1 NA18942.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0110 a0001c0001t0037g0128 a0001c0001t0037g0110 a0001c0001t0037g0128	2	400	0.0050	252	c.37 others(261): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATA TATGTGTATATATACGTATGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTA TGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(245): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATAT GTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG02027.hp2 others(7): Show HG00544.hp1 HG00673.hp2 HG02027.hp2 HG02083.hp2 HG02293.hp1 HG02896.hp1 HG03098.hp1 NA18964.hp2 NA18983.hp2 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0011 a0001c0001t0074 a0001c0001t0087 others(2): Show a0001c0001t0011 a0001c0001t0074 a0001c0001t0087 a0001c0005t0103 a0002c0004t0011	a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0123 others(5): Show a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0123 a0001c0001t0011g0240 a0001c0001t0074g0111 a0001c0001t0087g0305 a0001c0005t0103g0309 a0002c0004t0011g0220	10	400	0.0250	252	c.37 others(261): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTA TGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KRT75_chr12_52419070_52439371	52438135	C C	CCCAGGGG others(245): Show CCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGG CCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGT GGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGG TAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGGTAATTCTG TTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGAC ACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02809.hp1 HG02109.hp2 HG02572.hp2 HG02809.hp1	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0005 a0003c0003 a0017c0026 a0001c0005 a0003c0003 a0017c0026	a0001c0005t0001 a0003c0003t0001 a0017c0026t0001 a0001c0005t0001 a0003c0003t0001 a0017c0026t0001	a0001c0005t0001g0009 a0003c0003t0001g0081 a0017c0026t0001g0079 a0001c0005t0001g0009 a0003c0003t0001g0081 a0017c0026t0001g0079	3	416	0.0072	252	c.-38 others(263): Show c.-3832_-3831insAGTGTCCACAACAGAATTACCTTCTCCACACTCG GCCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCTGG AGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCA CAACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAA TTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTACCTTC TCCACACTCGGCCCCTGG	KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding		3765		chr12	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742240	C C	CAGCCAGA others(245): Show CAGCCAGAGCCATATCCATAACCATAGCCACAGCCAGAGCCATATCCACA ACCATAGCCACAGCCAGTTCCATATCCAGAGCCGTATTGACAGCCAGAGC CACATCCACAGCCAGAGCCACATCCACAGCCAGAGCCATATCCACAGCCA TAGCCAGAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCATA TCCATAACCATAGCCACAGCCAGTTCCATATCCAGAGCTGTATTGACAGC CAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	380	0.0026	252	c.47 others(263): Show c.4710_*4711insCTGGCTGTCAATACAGCTCTGGATATGGAACTGG CTGTGGCTATGGTTATGGATATGGCTCTGGCTCTGGCTATGGCTGTGGAT ATGGCTCTGGCTCTGGCTATGGCTGTGGATATGGCTCTGGCTGTGGATGT GGCTCTGGCTGTGGATGTGGCTCTGGCTGTCAATACGGCTCTGGATATGG AACTGGCTGTGGCTATGGTTGTGGATATGGCTCTGGCTGTGGCTATGGTT ATGGATATGGCTCTGGCT	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		4553		chr21	TogoVar
LDLRAD4_chr18_13213760_13657751	13494662	A A	AGTGAGAC others(245): Show AGTGAGACTCCATCTCCACTAATATATATATATATATAAAATATTATATT TATATATTATATATATAATATTATATATAATATATATATATATTATATAT ATAATATATATATATATTATATATATATATTATATATATAATATATTTAT ATATATAATATAATAATATAATATTATATATATTATATATATAAAATTAT ATTTATATATATAATATAATAATATAATATTATATATATTATATATATAA AAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03139.hp1 HG02622.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0057 a0001c0001t0015g0086 a0001c0001t0004g0057 a0001c0001t0015g0086	2	178	0.0112	252	c.181 others(271): Show c.181+56278_181+56279insGTGAGACTCCATCTCCACTAATATAT ATATATATATAAAATATTATATTTATATATTATATATATAATATTATATA TAATATATATATATATTATATATATAATATATATATATATTATATATATA TATTATATATATAATATATTTATATATATAATATAATAATATAATATTAT ATATATTATATATATAAAATTATATTTATATATATAATATAATAATATAA TATTATATATATTATATATATAAAAT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6			chr18	TogoVar
LMF2_chr22_50497949_50512702	50504140	A A	ACCCCCCC others(245): Show ACCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCCTGCACCCCGGGCTCCA CACCCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0282 a0001c0002t0001g0282	1	414	0.0024	252	c.171 others(269): Show c.1718+199_1718+200insGGGGTGTGGAGCCCGGGGTGCAGGGGTA AGGCCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAG GCCGGGCACTGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACCGGGGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAG GCCGGGCACCGGCGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGGTAAG GCCGGGCACCGGGGGGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LOC114841035_chr11_64236095_64249132	64237115	G G	GAGGGGGA others(245): Show GAGGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGACAGAGACA GAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	252	c.-41 others(263): Show c.-4165_-4164insAGGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAG AGACAGACAGAGACAGAC	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3979		chr11	TogoVar
LRCH3_chr3_197786254_197893436	197876800	T T	TCCATGAC others(245): Show TCCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGAT TCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAAC TCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATG GCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTT TACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCG CAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0035 a0001c0005t0035	a0001c0005t0035g0021 a0001c0005t0035g0021	1	292	0.0034	252	c.220 others(271): Show c.2208+1102_2208+1103insGCAGTGATTCTCTTTACCCAACTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAG TGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACC CAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACC CATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATG	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877150	A A	ATTCACCG others(245): Show ATTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCA TGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTC TTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAATTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAG TGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACC CAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01123.hp1 HG01167.hp1 others(5): Show HG00609.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG02129.hp1 HG02148.hp1 HG03654.hp1 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0017 a0001c0001 a0002c0003 a0002c0017	a0001c0001t0002 a0002c0003t0013 a0002c0003t0020 others(2): Show a0001c0001t0002 a0002c0003t0013 a0002c0003t0020 a0002c0003t0038 a0002c0017t0020	a0001c0001t0002g0132 a0001c0001t0002g0231 a0001c0001t0002g0232 others(5): Show a0001c0001t0002g0132 a0001c0001t0002g0231 a0001c0001t0002g0232 a0002c0003t0013g0145 a0002c0003t0013g0185 a0002c0003t0020g0213 a0002c0003t0038g0122 a0002c0017t0020g0103	8	292	0.0274	252	c.220 others(271): Show c.2208+1375_2208+1376insTTCACCGCACCCATGGCAGTGATTCT CTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCA CCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCA GTGATTCTCTTTACCCAATTCACCGCACCCATGGCAGTGATTCTCTTTAC CCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCAC CCATGGCAGTGATTCTCTTTACCCAG	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20			chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877151	C C	TTCACCGC others(245): Show TTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACC GCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGT GATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCC AAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	292	0.0034	252	c.220 others(271): Show c.2208+1375_2208+1376insTTCACCGCACCCATGGCAGTGATTCT CTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCA CCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCA GTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTAC CCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCAC CCATGGCAGTGATTCTCTTTACCCAA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20			chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877223	C C	CTCACCGC others(245): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAATTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGT GATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCC AAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0284 a0001c0002t0004g0284	1	292	0.0034	252	c.220 others(271): Show c.2208+1518_2208+1519insATTCACCGCACCCATGGCAGTGATTC TCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGC AGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCA CCCATGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877403	T T	TTCACCGC others(245): Show TTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGT GATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCC AAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	292	0.0034	252	c.220 others(271): Show c.2208+1662_2208+1663insGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGC AGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTA CCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCA CCCATGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRP8_chr1_53237364_53333070	53283498	T T	TACTTACT others(245): Show TACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCA CTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCGGGC CACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCA CTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGC CACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCGG GCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0061 a0012c0024t0061	a0012c0024t0061g0148 a0012c0024t0061g0148	1	296	0.0034	252	c.368 others(269): Show c.368-2784_368-2783insGGCCCGGGTATGTAGTAAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGG CCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283557	T T	TACATACC others(245): Show TACATACCCGGGCCACTTACATACTACATACCCGGGCCACTTACTTACTT ACTACATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTAC TTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTT ACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCAC TTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTT ACA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0196 a0001c0004t0002g0196	1	296	0.0034	252	c.368 others(269): Show c.368-2843_368-2842insTGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTATGTAAGTGGCCCGGGTATGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364445	A A	ACACCCAC others(245): Show ACACCCACAATTACACCCACACTTACATCTACCTCCACGCCCACACTCAC ACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTACAC CCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTACAC CCACACTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTCAC ACC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0098 a0001c0003t0006g0098	1	290	0.0035	252	c.129 others(269): Show c.1290-971_1290-970insATTACACCCACACTTACATCTACCTCCA CGCCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACCCA CCCACACTTACACCCACCCACACTCACACCCACCCTTACATCTACCTCCA CACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACCCA CCCACACTTACACCCACACTTACATCTACCTCCACGCCCACACTCACACC CACCCACACTCACACCCACCCACA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUZP2_chr11_24492053_25087638	25044085	A A	ATATATAT others(245): Show ATATATATATCTGGTATATATAGACTATATATATCTGATATATAGACTCT ATATATATCAGATATATAGAGAGTCTATATATCAGATATATATAGTCTAT ATATATCTGATAAGACTATATATATCTGATATATATAGACTATATATATC TGATATATAGACTCTCTATATATCAGATATATATATATATATCTGATATA TAGAGAGTCTATATATCAGATATATATAGTCTATATATCTGATATATATA GTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	116	0.0086	252	c.766 others(269): Show c.766-5941_766-5940insGTATATATAGACTATATATATCTGATAT ATAGACTCTATATATATCAGATATATAGAGAGTCTATATATCAGATATAT ATAGTCTATATATATCTGATAAGACTATATATATCTGATATATATAGACT ATATATATCTGATATATAGACTCTCTATATATCAGATATATATATATATA TCTGATATATAGAGAGTCTATATATCAGATATATATAGTCTATATATCTG ATATATATAGTCTATATATATCTG	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAD1L1_chr7_1810795_2237945	1940990	C C	CCAGGCCT others(245): Show CCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTC CTCTCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCC TCTTCCTCCCCCCGCAGGCCTCAGCCTCCTCTTCCTCTCCCAGGCCTCAC CCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGC CTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCCCC CCG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	264	0.0038	252	c.159 others(271): Show c.1597-4094_1597-4093insCGGGGGGAGGAAGAGGAGGGTGAGGC CTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGAGGAGGGT GAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGAGG AGGCTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGA GGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGCGG GGGGAGGAAGAGGAGGCTGAGGCCTG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(245): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATATTCATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATTCATATATA TTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	191	0.0052	252	c.343 others(269): Show c.343-4346_343-4345insGAATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATGAATATATATATGAATCTATATATGAATATAT ATGAATCTATATATGAATCTATATATGAATATATATATGAATCTATATAT GAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(245): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATATTCATATATAGATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATTCATATATA TTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	191	0.0052	252	c.343 others(269): Show c.343-4346_343-4345insGAATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT CTATATATGAATATATATATGAATCTATATATGAATATATATGAATCTAT ATATGAATATATATGAATCTATATATGAATATATATATGAATCTATATAT GAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(245): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATATTCATATATAGATTCATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18942.hp1 NA18965.hp1 others(1): Show HG02135.hp1 NA18942.hp1 NA18965.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0046 a0001c0001t0001 a0001c0001t0046	a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0129 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0046g0191	4	191	0.0209	252	c.343 others(269): Show c.343-4346_343-4345insGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATGAAT CTATATATGAATATATATATGAATCTATATATGAATATATATGAATCTAT ATATGAATATATATGAATCTATATATGAATATATATATGAATCTATATAT GAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(245): Show TATATGTATATATGTACATATATGTATATATGTATATATGTATATATGTA CATATATGTATATATGTATATATGTACATATATGTATATATGTATATATG TACATATATACATATATGTACATATATGTATATATGTACACATGTACATA TATGTACATATGTACATATATGTACATATATGTACATATATGTACACATG TACATATATGTACATATATGTACATATATGTACATATATGTACATATATG TAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0056 a0002c0056	a0002c0056t0003 a0002c0056t0003	a0002c0056t0003g0135 a0002c0056t0003g0135	1	160	0.0063	252	c.627 others(269): Show c.627+6680_627+6681insGTACATATATGTACATATATGTACATAT ATGTACATATATGTACATATATGTACATGTGTACATATATGTACATATAT GTACATATATGTACATATGTACATATATGTACATGTGTACATATATACAT ATATGTACATATATGTATATATGTACATATATACATATATACATATATGT ACATATATACATATATACATATATGTACATATATACATATATACATATAT ACATATATGTACATATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333844	T T	TATATATG others(245): Show TATATATGTACATATATGTATATATGTATATATGTATATATGTACATATA TGTATATATGTATATATGTATATATGTACATATATGTATATATGTATATA TGTACATATATACATATATGTACATATATGTATATATGTACACATGTACA TATATGTACATATGTACACATGTACATATATGTACATATGTACATATATG TACATATATGTACATATATGTACATATATGTACATATATGTACATATATG TAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	160	0.0063	252	c.627 others(269): Show c.627+6674_627+6675insGTACATATATGTACATATATGTACATAT ATGTACATATATGTACATATATGTACATATATGTACATATGTACATATAT GTACATGTGTACATATGTACATATATGTACATGTGTACATATATACATAT ATGTACATATATGTATATATGTACATATATACATATATACATATATGTAC ATATATACATATATACATATATACATATATGTACATATATACATATATAC ATATATACATATATGTACATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MEGF6_chr1_3482951_3616508	3583270	A A	ACAGCCAC others(245): Show ACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0077 a0077	a0077c0076 a0077c0076	a0077c0076t0013 a0077c0076t0013	a0077c0076t0013g0250 a0077c0076t0013g0250	1	292	0.0034	252	c.377 others(269): Show c.377-3342_377-3341insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583270	A A	ACAGCCAC others(245): Show ACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC GCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0068 a0068	a0068c0081 a0068c0081	a0068c0081t0057 a0068c0081t0057	a0068c0081t0057g0281 a0068c0081t0057g0281	1	292	0.0034	252	c.377 others(269): Show c.377-3342_377-3341insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583324	A A	ACAGCCAC others(245): Show ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0075 a0075	a0075c0085 a0075c0085	a0075c0085t0001 a0075c0085t0001	a0075c0085t0001g0126 a0075c0085t0001g0126	1	292	0.0034	252	c.377 others(269): Show c.377-3396_377-3395insCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583592	C C	CCACAGCC others(245): Show CCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAG CCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0024 a0024	a0024c0072 a0024c0072	a0024c0072t0013 a0024c0072t0013	a0024c0072t0013g0252 a0024c0072t0013g0252	1	292	0.0034	252	c.377 others(269): Show c.377-3664_377-3663insCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583646	C C	CCACAGCC others(245): Show CCACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACA ACG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0081 a0081	a0081c0061 a0081c0061	a0081c0061t0003 a0081c0061t0003	a0081c0061t0003g0100 a0081c0061t0003g0100	1	292	0.0034	252	c.377 others(269): Show c.377-3718_377-3717insCGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MELTF_chr3_196996740_197034817	197030146	G G	GCACAGCT others(245): Show GCACAGCTGCACAGAGGATCTGGGATACGGGGGAGCCCAGGCCGAGCGCC CTGGCGAGGGGGGAGCCGGGCAGGGGCATCTCGGCCACAGCTGCACAGAG GATCTGGGATACGGGAGAGCCCAGGCCGAGCGGCCTGGCGAGGGGGGAGC CGGGCAGGGGCACCTCGGCCACAGCTGCACAGAGGATCTGGGATACGGGG GAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGCCGGGCAGGGGCACCTC GGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	420	0.0024	252	c.-44 others(261): Show c.-445_-444insGCCGAGGTGCCCCTGCCCGGCTCCCCCCTCGCCAGG GCGCTCGGCCTGGGCTCCCCCGTATCCCAGATCCTCTGTGCAGCTGTGGC CGAGGTGCCCCTGCCCGGCTCCCCCCTCGCCAGGCCGCTCGGCCTGGGCT CTCCCGTATCCCAGATCCTCTGTGCAGCTGTGGCCGAGATGCCCCTGCCC GGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGGCTCCCCCGTATCCCAGAT CCTCTGTGCAGCTGTG	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		330		chr3	TogoVar
MICAL3_chr22_17782649_18029561	17877000	G G	GGGAGGTT others(245): Show GGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAA GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATG GAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAAGT TAT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	274	0.0037	252	c.224 others(271): Show c.2242-4978_2242-4977insATAACTTCCCTAACCTCCATAATCTC CCTAACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAA CCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAG CTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877009	T T	TGGAGGTG others(245): Show TGGAGGTGAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGG TTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGT TAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	274	0.0037	252	c.224 others(271): Show c.2242-4987_2242-4986insCTAACCTCCCTCACCTCCATAACCTC CCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCA TAACTTCCCTAACCTCCCTCACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877009	T T	TGGAGGTG others(245): Show TGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGG GAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTTATGGAGGT TAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0021 a0001c0015t0021	a0001c0015t0021g0095 a0001c0015t0021g0095	1	274	0.0037	252	c.224 others(271): Show c.2242-4987_2242-4986insCTAACCTCCATAACCTCCCTAACCTC CCTCACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTCA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCC TAACCTCCATAACCTCCCTCACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877018	T T	TGGAGGTT others(245): Show TGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGG GAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGT GAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0247 a0002c0006t0009g0247	1	274	0.0037	252	c.224 others(271): Show c.2242-4996_2242-4995insCTCACCTCCATAACTGCCATAACCTC CATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAAC CTCCATAACTTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCA TAACCTCCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877306	T T	TGGAGGTG others(245): Show TGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGT TAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0003 a0006c0009t0003	a0006c0009t0003g0189 a0006c0009t0003g0189	1	274	0.0037	252	c.224 others(271): Show c.2242-5284_2242-5283insCTAACCTCCCTAACCTCCCTAACCTC CCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCC CTCACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCC TCACCTCCATAACCTCCCTCACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAAGTT others(245): Show GGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAA GTTATGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGT TAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0238 a0001c0024t0003g0238	1	274	0.0037	252	c.224 others(271): Show c.2242-5347_2242-5346insATAACCTCCCTAACCTCCCTAACCTC CATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAAC CTCCATAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877387	T T	TGGAGGTT others(245): Show TGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAG GGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATG GAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGT TAG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0002 a0001c0065t0002	a0001c0065t0002g0029 a0001c0065t0002g0029	1	274	0.0037	252	c.224 others(271): Show c.2242-5365_2242-5364insCTAACCTCCATAACCTCCCTAACCTC CCTAACCTCCATAACTTCCCTAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCC CTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCC TAACCTCCATAACTTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877472	G G	GGTTATGG others(245): Show GGTTATGGAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAGATTA TGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGG GAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0006 a0007c0013t0006	a0007c0013t0006g0185 a0007c0013t0006g0185	1	274	0.0037	252	c.224 others(271): Show c.2242-5450_2242-5449insTTCCCTAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACTTCC CTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAAC TGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCA TAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACC TCCGTAACCTCCCTAACCTCCATAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar

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