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
GAP43_chr3_115618510_115726483	115698074	A A	ATTATATA others(197): Show ATTATATATAATATATAAAATATATAATATATATAATATATAAAATATAT CTTATATATAATATATAATATATATAAAATATATCTTATATATAATATAT AATATATATAAAATATATCTTATATATAATATATAATATATATAAAATAT ATCTTATGTATAATATATAATATATATAAAATATATATTATATATAATAT ATAAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18990.hp2 NA19072.hp1 HG00673.hp2 NA18990.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0270 a0001c0001t0004g0248 a0001c0001t0004g0282 a0001c0001t0002g0270 a0001c0001t0004g0248 a0001c0001t0004g0282	3	352	0.0085	204	c.628 others(223): Show c.628+21464_628+21465insTTATATATAATATATAAAATATATAA TATATATAATATATAAAATATATCTTATATATAATATATAATATATATAA AATATATCTTATATATAATATATAATATATATAAAATATATCTTATATAT AATATATAATATATATAAAATATATCTTATGTATAATATATAATATATAT AAAATATATATTATATATAATATATAAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GGH_chr8_63010079_63043806	63032908	T T	TCCTCCCT others(197): Show TCCTCCCTGTGCCCTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	426	0.0024	204	c.225 others(221): Show c.225-2692_225-2691insCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAACAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATAAAAGGGCACAGGGAGG	GGH	ENSG00000137563.13	transcript	ENST00000260118.7	protein_coding	2/8			chr8	TogoVar
GLIPR1L2_chr12_75386089_75437688	75433540	T T	TTATATAT others(197): Show TTATATATATATATAATGGATTATATATATATATAATGGATTATATATAT ATATATAATGGATTATATATATATATAATGGATTATATATATATATAATG GATTATATATATATATATATAATGGATTATATATATATATAATGGATTAT ATATATATATATAATGGATTATATATATATATATATATAATGGATTATAT ATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	360	0.0028	204	c.23 others(215): Show c.2379_*2380insTATATATATATATAATGGATTATATATATATATA ATGGATTATATATATATATATAATGGATTATATATATATATAATGGATTA TATATATATATAATGGATTATATATATATATATATAATGGATTATATATA TATATAATGGATTATATATATATATATAATGGATTATATATATATATATA TATAATGGATTATATATATA	GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding		853		chr12	TogoVar
GLT6D1_chr9_135618648_135644540	135620041	C C	CCCCTTCT others(197): Show CCCCTTCTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAG TCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCC TTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTTTTCCCCCTACTC CCCCGTCTCCCCCATCTCCCCCGTCTCTCCCGTCTCCCCCATCTCCCCCT TCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0183 a0003c0002t0004g0183	1	436	0.0023	204	c.40 others(215): Show c.4055_*4056insTGAGAAGGGGGAGATGGGGGAGACGGGAGAGACG GGGGAGATGGGGGAGACGGGGGAGTAGGGGGAAAAGGGGGAGAAGGGGGA GTAGAGGGGGAAGGGGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGG AGTAGGGGGAGATGGGGGAGACTGGGCAGACAGGGGAGACGGGGGAGAAG GGGGAGTAGGGGGAGAAGGG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3606		chr9	TogoVar
GMEB2_chr20_63582605_63632101	63607494	C C	CCCCTCTG others(197): Show CCCCTCTGATCCACCTCCATTTCTAGAAACATGCCACTCTGACCCACACC TCCATTTCTAGAAACATGTCCCTCTGACCCCACATCCATTTCTAGAAACA TGCCCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCTGACCCACC TCCATTTCTAGAAACATGTCCCTCTGACCCCACACATCCATTTCTAGAAA CATGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0127 a0001c0003t0002g0127	1	330	0.0030	204	c.132 others(221): Show c.132-2655_132-2654insACATGTTTCTAGAAATGGATGTGTGGGG TCAGAGGGACATGTTTCTAGAAATGGAGGTGGGTCAGAGGGGCATGTTTC TGGAAATGGAGGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGG TCAGAGGGACATGTTTCTAGAAATGGAGGTGTGGGTCAGAGTGGCATGTT TCTAGAAATGGAGGTGGATCAGAGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608192	C C	CTCCATTT others(197): Show CTCCATTTCTAGAAACATGTCCCTCTGACCCCACATCCATTTCTAGAAAC ATGCCCCTCTGACCTCACCTCCATTTCTAGAAACATGCCCCTGTGACCCC ACATCCATTTCTAGAAACATGTCCCTCTGACCCCACCTCCATTTCTAGAA ACATGCCCCTCTGACCCCACCTCCATTTCTAGAAACATGCCCCTCTGACC CCACA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	330	0.0030	204	c.132 others(221): Show c.132-3353_132-3352insTGTGGGGTCAGAGGGGCATGTTTCTAGA AATGGAGGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGGTCA GAGGGACATGTTTCTAGAAATGGATGTGGGGTCACAGGGGCATGTTTCTA GAAATGGAGGTGAGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGGT CAGAGGGACATGTTTCTAGAAATGGA	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNAT3_chr7_80453635_80517064	80497671	C C	CATATACG others(197): Show CATATACGTATATACATATACGTATATACATATACGTATATACATATACG TATATACATATACGTATATACATATACGTATATACATATACGTATATACA TATACGTATATACATATACGTATATACACATATACGTATATACATATACG TATATACACATATACGTATATACATATACGTATATACACATATACGTATA TGTAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	334	0.0030	204	c.119 others(221): Show c.119-3025_119-3024insATACATATACGTATATGTGTATATACGT ATATGTATATACGTATATGTGTATATACGTATATGTATATACGTATATGT GTATATACGTATATGTATATACGTATATGTATATACGTATATGTATATAC GTATATGTATATACGTATATGTATATACGTATATGTATATACGTATATGT ATATACGTATATGTATATACGTATAT	GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	1/7			chr7	TogoVar
GPHN_chr14_66503147_67186803	66683357	T T	CATATATA others(197): Show CATATATATGTTCATATATATATGTTCATATATATGTATGTTCATATATA TATGTACATATATATGTTCATATATGTATGTTCATATATATATGTACATA TATATGTTCATATATATATGTTCATATATATATGTACATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATATG TTCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02886.hp1 HG03486.hp2 others(1): Show HG00639.hp2 HG02886.hp1 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0009g0139	4	234	0.0171	204	c.143 others(221): Show c.143+2171_143+2172insCATATATATGTTCATATATATATGTTCA TATATATGTATGTTCATATATATATGTACATATATATGTTCATATATGTA TGTTCATATATATATGTACATATATATGTTCATATATATATGTTCATATA TATATGTACATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATATGTTCA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22			chr14	TogoVar
GPR35_chr2_240620480_240638159	240626003	T T	TGGGGGTC others(197): Show TGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGCG AGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGA GCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGG GTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCT CTGAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	400	0.0025	204	c.-5+ others(217): Show c.-5+439_-5+440insGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTC TCAGAGCGGGGCGAGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTG ACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCG AGGCTGTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGA GCGGGGTGAGGCTCTGACGGGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRAMD1B_chr11_123425269_123632767	123457126	A A	AAAGAAAG others(197): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0135 a0001c0002t0052g0135	1	282	0.0036	204	c.375 others(223): Show c.375-23677_375-23676insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGGAAGGAAGAAAGAAAGAA	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GREM2_chr1_240484573_240617155	240536567	G G	GGAGTTTA others(197): Show GGAGTTTAAGACAAAATGGCAGCGGGGGCTGTAGATCTGGAAGCCATCTG TAGAGTTTAAGACAAAATGGCAGCGGGGGCTGTAGATCTGGAAGCCATCT GTAGAGTTTAAGACAAAATGGCAGCGGGGGCTGTAGATCTGGAAGCCATC TGTAGAGTTTAAGACAAAATGGCAGCGGGGGCTGTAGATCTGGAAGCCAT CTGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG02004.hp1 HG00639.hp1 HG01074.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0191 a0001c0001t0002g0232 a0001c0001t0003g0273 a0001c0001t0002g0191 a0001c0001t0002g0232 a0001c0001t0003g0273	3	376	0.0080	204	c.-1- others(221): Show c.-1-43092_-1-43091insTACAGATGGCTTCCAGATCTACAGCCCC CGCTGCCATTTTGTCTTAAACTCTACAGATGGCTTCCAGATCTACAGCCC CCGCTGCCATTTTGTCTTAAACTCTACAGATGGCTTCCAGATCTACAGCC CCCGCTGCCATTTTGTCTTAAACTCTACAGATGGCTTCCAGATCTACAGC CCCCGCTGCCATTTTGTCTTAAACTC	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GREM2_chr1_240484573_240617155	240536640	C C	CGGGGGCT others(197): Show CGGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATGGCA GCGGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATGGC AGCGGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATGG CAGCGGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATG GCAGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	376	0.0027	204	c.-1- others(221): Show c.-1-43165_-1-43164insACTGCCATTTTGTCTTAAACTCTACAGA TGGCTTCCAGATCTACAGCCCCCGCTGCCATTTTGTCTTAAACTCTACAG ATGGCTTCCAGATCTACAGCCCCCGCTGCCATTTTGTCTTAAACTCTACA GATGGCTTCCAGATCTACAGCCCCCGCTGCCATTTTGTCTTAAACTCTAC AGATGGCTTCCAGATCTACAGCCCCC	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GRTP1_chr13_113319163_113369130	113346059	G G	GGAGGACC others(197): Show GGAGGACCTCTGTGGCTGAGCGGATCCGGGAGGACCTCTGAAGCCGAGAG CAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTG GCTGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGA CCTCTGAAGCCGAGAGCAGACCCGGGAGGACTTTTGTGGCCGAGAGTGGA CCCGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0270 a0009c0011t0001g0270	1	288	0.0035	204	c.466 others(221): Show c.466-1101_466-1100insTCGGGTCCACTCTCGGCCACAAAAGTCC TCCCGGGTCTGCTCTCGGCTTCAGAGGTCCTCCCGGATCTGTTCTTGGCC ACAGAGGTCCTCCCGGGTCTGCTCAGCCACAGAGGTCCTCCCAGATCCGC TCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAGGTCCTCCC GGATCCGCTCAGCCACAGAGGTCCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653215	C C	CCTCCCCC others(197): Show CCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTC CTCCT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0003 a0016c0029t0003	a0016c0029t0003g0100 a0016c0029t0003g0100	1	290	0.0035	204	c.427 others(221): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCC CCTCCTCCTCCCCCCTCCTCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653215	C C	CCTCCCCC others(197): Show CCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCTCCCTCCTC CCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCCTCCTCCTCCTCCCCCTC CTCCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0001	1	290	0.0035	204	c.427 others(221): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCTTCCCC CCTCCTCCCCCTCCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCC CCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCC CCCTCCTCCTCCTCCCCCTCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HELZ2_chr20_63553086_63579239	63571297	G G	GGTGGGCT others(197): Show GGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTA CGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCT GTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCC TACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGC CTGCA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0282 a0002c0002t0005g0282	1	390	0.0026	204	c.279 others(219): Show c.279-430_279-429insTGCAGGCAGAGCCAGAGGCTCCCAGGAGCT TGGAGCAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGCTCCCAGGAGC TTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGAG CTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGA GCTTGGAGTGGGGCAGGAGCCCAC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571398	C C	CGGTGGGC others(197): Show CGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCT GTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCC TACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGC CTACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTG CCTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0094 a0029c0039t0094	a0029c0039t0094g0081 a0029c0039t0094g0081	1	390	0.0026	204	c.279 others(219): Show c.279-531_279-530insACAGGCAGAGCCAGAGGCTCCCAGGAGCTT GGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCT TGGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGCTCCCAGGAGC TTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGAG CTTGGAGCAGGGCAGGAGCCCACC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571806	C C	CGGTGGGC others(197): Show CGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCT GTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCC TGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGC CTACGGTGGGCTCCTGCCCTACTCCAAGCTCCTGGGAACCTCTGGCTCTG CCTGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 NA18906.hp1 HG02895.hp2 HG02897.hp2 NA18906.hp1	a0030 a0067 a0030 a0067	a0030c0018 a0067c0087 a0030c0018 a0067c0087	a0030c0018t0010 a0067c0087t0014 a0030c0018t0010 a0067c0087t0014	a0030c0018t0010g0023 a0067c0087t0014g0244 a0030c0018t0010g0023 a0067c0087t0014g0244	3	390	0.0077	204	c.278 others(219): Show c.278+301_278+302insACAGGCAGAGCCAGAGGTTCCCAGGAGCTT GGAGTAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGCTCCCAGGAGCT TGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGAGC TTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGAG CTTGGAGCAGGGCAGGAGCCCACC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HMGN1_chr21_39337315_39354088	39337372	A A	ATATATAT others(197): Show ATATATATATATTATATATATATATAATATATATATATTATATATATAAT ATATATTATATATATATAATATATATTATATATATAATATATATATAATA TATATATTATATATATATAATATATATTATATATATAATATATATTATAT ATATAATATATATATTATATATATAATATATATTATATATATATAATATA TATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0073 a0001c0001t0019g0073	1	414	0.0024	204	c.57 others(215): Show c.5739_*5740insATATATATATTATATATATATAATATATATTATA TATATAATATATATATTATATATATAATATATATTATATATATAATATAT ATTATATATATATAATATATATATTATATATATATTATATATATAATATA TATTATATATATATAATATATATTATATATATAATATATATATATTATAT ATATATATAATATATATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4942		chr21	TogoVar
HPCAL1_chr2_10297904_10432604	10399223	C C	CCACCACC others(197): Show CCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCA CCACCACCACCATCACCACCACCACCATCACCATCACCATCACCGCCACC ACCAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0166 a0001c0001t0001g0167	2	314	0.0064	204	c.-25 others(221): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCA CCATCACCGCCACCACCATCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399408	A A	ATCACCAC others(197): Show ATCACCACCATCACCACCACCATCACCACCGCCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCA TCATCACCACCATCACCACCACCATCATCACCACCATCATCACCACCATC ACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCACCAT CGCCG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	314	0.0032	204	c.-25 others(221): Show c.-25+2488_-25+2489insTCACCACCATCACCACCACCATCACCAC CGCCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCACCACCATCACCACCACCATCATCACCACCATCACCACCACCATCATC ACCACCATCATCACCACCATCACCACCACCATCACCACCACCATCATCAC CACCATCACCACCACCACCATCGCCG	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4			chr2	TogoVar
HSPA12A_chr10_116666192_116747566	116732328	C C	CAAAGAAA others(197): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	320	0.0031	204	c.40+ others(221): Show c.40+10101_40+10102insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
IFITM5_chr11_293200_304526	294512	A A	ACCCCAGG others(197): Show ACCCCAGGCTGTCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCT CCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCCCTCTCACCCCCAG GCTGCCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCCCCTCACC CCCAGACTGCCCTCTCACCCCCAGGCTGTCCCTCACCCCCAGACTGCCCT CTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	434	0.0023	204	c.39 others(215): Show c.3988_*3989insGTGAGAGGGCAGTCTGGGGGTGAGGGACAGCCTG GGGGTGAGAGGGCAGTCTGGGGGTGAGGGGCAGCCTGGGGGTGAGAGGGC AGTCTGGGGGTGAGGGGCAGCCTGGGGGTGAGAGGGCAGCCTGGGGGTGA GAGGGCAGTCTGGGGGTGAGGAGCAGCCTGGGGGTGAGAGGGCAGTCTGG GGGTGAGGGACAGCCTGGGG	IFITM5	ENSG00000206013.2	transcript	ENST00000382614.2	protein_coding		3687		chr11	TogoVar
IL17RA_chr22_17080000_17120693	17104286	T T	TGGAGTGG others(197): Show TGGAGTGGGGAGCGTGCACAGGTGGAGAGAGTGGTGTGGCTGGGAGTGGG GAGCGTGCACAGGTGGAGAGAGTGGTGTGGCTGGGAGTGGGGAGCGTGCA CAGGTGGAGAGTGTGGTGTGGACGGGAGTGGGGAGCGTGCACAGGTGGAG AGTGTGGTGTGGCTGGAGTGGGGAGCGTGCACAGGTGGAGAGTGTGGTGT GGCTG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	416	0.0024	204	c.847 others(219): Show c.847-297_847-296insGTGGAGAGTGTGGTGTGGCTGGAGTGGGGA GCGTGCACAGGTGGAGAGTGTGGTGTGGCTGGGAGTGGGGAGCGTGCACA GGTGGAGAGAGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGAG AGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGAGTGTGGTGTG GACGGGAGTGGGGAGCGTGCACAG	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL18R1_chr2_102350796_102403776	102352893	A A	AATATTAT others(197): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATAATAT TATATATTTTATATATAATATTATATATAATATTATATATAAAATATATA ATATTATATATAATATTATATAAAATATATAATATTATATATAATATTAT ATATTTTATATATAATATATATTATATAATATTATATATATTATACATTA CATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA19007.hp2 NA18994.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	366	0.0055	204	c.-35 others(215): Show c.-3536_-3535insATATTATATATAATATTATATATTTTATATATAA TATTATATATAATATTATATATTTTATATATAATATTATATATAATATTA TATATAAAATATATAATATTATATATAATATTATATAAAATATATAATAT TATATATAATATTATATATTTTATATATAATATATATTATATAATATTAT ATATATTATACATTACATAT	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2902		chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352893	A A	AATATTAT others(197): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATAATAT TATATATTTTATATATAATATTATATATAATATTATATATTTTATATAAT ATTATATATAATATTATATATTTTATATATAATATTATATATAATATTAT ATATTTTATATATAATATATATTATATAATATTATATATATTATACATTA CATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(74): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00738.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01496.hp1 HG02015.hp1 HG02027.hp2 HG02080.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18991.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19089.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0004 a0001c0001 a0001c0011 a0002c0004	a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0009g0003 a0001c0001t0009g0008 a0001c0001t0009g0055 a0001c0011t0001g0008 a0002c0004t0001g0002	77	366	0.2104	204	c.-35 others(215): Show c.-3536_-3535insATATTATATATAATATTATATATTTTATATATAA TATTATATATAATATTATATATTTTATATATAATATTATATATAATATTA TATATTTTATATAATATTATATATAATATTATATATTTTATATATAATAT TATATATAATATTATATATTTTATATATAATATATATTATATAATATTAT ATATATTATACATTACATAT	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2902		chr2	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307445	G G	GTATATAT others(197): Show GTATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATATTTTATATTATATATATTATA TATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp1 others(33): Show HG00140.hp1 HG00280.hp1 HG00642.hp1 HG01074.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02132.hp1 HG02300.hp1 HG02735.hp1 HG02738.hp1 HG04115.hp1 NA18612.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18977.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA19062.hp1 NA19070.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0002c0003t0007	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0024 others(33): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0005g0081 a0001c0002t0001g0008 a0001c0002t0001g0028 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0106 a0002c0003t0007g0094	36	141	0.2553	204	c.697 others(223): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RL1_chr2_102306563_102357037	102352893	A A	AATATTAT others(197): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATAATAT TATATATTTTATATATAATATTATATATAATATTATATATAAAATATATA ATATTATATATAATATTATATAAAATATATAATATTATATATAATATTAT ATATTTTATATATAATATATATTATATAATATTATATATATTATACATTA CATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA19007.hp1 NA18994.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	348	0.0058	204	c.97 others(213): Show c.972_*973insATATTATATATAATATTATATATTTTATATATAATA TTATATATAATATTATATATTTTATATATAATATTATATATAATATTATA TATAAAATATATAATATTATATATAATATTATATAAAATATATAATATTA TATATAATATTATATATTTTATATATAATATATATTATATAATATTATAT ATATTATACATTACATAT	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		857		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352893	A A	AATATTAT others(197): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATAATAT TATATATTTTATATATAATATTATATATAATATTATATATTTTATATAAT ATTATATATAATATTATATATTTTATATATAATATTATATATAATATTAT ATATTTTATATATAATATATATTATATAATATTATATATATTATACATTA CATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(68): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00738.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18991.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0001 a0011c0015t0001 a0001c0001t0001 a0011c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0011c0015t0001g0158	71	348	0.2040	204	c.97 others(213): Show c.972_*973insATATTATATATAATATTATATATTTTATATATAATA TTATATATAATATTATATATTTTATATATAATATTATATATAATATTATA TATTTTATATAATATTATATATAATATTATATATTTTATATATAATATTA TATATAATATTATATATTTTATATATAATATATATTATATAATATTATAT ATATTATACATTACATAT	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		857		chr2	TogoVar
INPP5D_chr2_233055342_233212903	233137886	A A	ACACATAT others(197): Show ACACATATATATGTGTATATATATATATACATATATGTGTATATATATAT ACACATATATGTGTATATATATACACATATATATGTATATATATATACAC ATATATGTGTATATATATACACATATATATGTATATATATATACACATAT ATGTGTATATATATACACATATATATGTATATATATATACACATATATAT ATGTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03486.hp2 HG01978.hp2 HG03486.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0004 a0002c0007t0003 a0002c0007t0004	a0002c0007t0003g0214 a0002c0007t0004g0016 a0002c0007t0003g0214 a0002c0007t0004g0016	2	310	0.0065	204	c.666 others(221): Show c.666-1956_666-1955insCACATATATATGTGTATATATATATATA CATATATGTGTATATATATATACACATATATGTGTATATATATACACATA TATATGTATATATATATACACATATATGTGTATATATATACACATATATA TGTATATATATATACACATATATGTGTATATATATACACATATATATGTA TATATATATACACATATATATATGTG	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	5/26			chr2	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(197): Show TAAGAAAAGAAAAGAAAGAAAAGAAACGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0172 a0002c0003t0001g0172	1	308	0.0033	204	c.127 others(223): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCGTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224731	T T	TCCATCCA others(197): Show TCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACC CATCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCA CCCACCCATCCATCCACCTACCCACCTGTCCACCCATGTACCCACCCTCC CACCAACCCACCCACCCATCCATTTATCCACCTACCCACACATCCACCCA TCCAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	292	0.0034	204	c.121 others(223): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCCACCCATCCACCCATCCATCCACCCACCCACCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCTACCCACCTGTCCACCCATG TACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCA CACATCCACCCATCCACCCATCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGA3_chr17_50051110_50095481	50086177	T T	TATATATT others(197): Show TATATATTAGATTATATATTATACATTTATAATATATATATTAGATTATA TATTATACATTTATAATATATATTAGATTATATATATTATACATGTATAA TATATATATTAGATTATATATATTATACATGTATAATATATATTAGATTA TATATATTATACATGTATAATATATATATTAGATTATATATATTATACAT GTATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	402	0.0025	204	c.292 others(223): Show c.2920-1561_2920-1560insTAGATTATATATTATACATTTATAAT ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATGTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATTAGATTATATATATTATACATGTATAATATATATATTAGA TTATATATATTATACATGTATAATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086211	T T	TATATATT others(197): Show TATATATTAGATTATATATTATACATGTATAATATATATATTAGATTATA TATTATACATTTATAATATATATTAGATTATATATATTATACATGTATAA TATATATATTAGATTATATATATTATACATGTATAATATATATTAGATTA TATATATTATACATGTATAATATATATATTAGATTATATATATTATACAT GTATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0252 a0002c0002t0003g0252	1	402	0.0025	204	c.292 others(223): Show c.2920-1527_2920-1526insTAGATTATATATTATACATGTATAAT ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATGTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATTAGATTATATATATTATACATGTATAATATATATATTAGA TTATATATATTATACATGTATAATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086211	T T	TATATATT others(197): Show TATATATTAGATTATATATTATACATTTATAATATATATATTAGATTATA TATTATACATTTATAATATATATTAGATTATATATATTATACATGTATAA TATATATATTAGATTATATATATTATACATGTATAATATATATTAGATTA TATATATTATACATGTATAATATATATATTAGATTATATATATTATACAT GTATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG02083.hp2 others(10): Show HG00597.hp2 HG00609.hp1 HG02083.hp2 NA18942.hp2 NA18950.hp1 NA18995.hp1 NA19060.hp2 NA19064.hp1 NA19075.hp1 NA19081.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0050 a0002c0002t0003g0079 others(8): Show a0002c0002t0003g0002 a0002c0002t0003g0050 a0002c0002t0003g0079 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0108 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0116 a0002c0002t0003g0141	13	402	0.0323	204	c.292 others(223): Show c.2920-1527_2920-1526insTAGATTATATATTATACATTTATAAT ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATGTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATTAGATTATATATATTATACATGTATAATATATATATTAGA TTATATATATTATACATGTATAATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB2_chr21_44880953_44925899	44918939	G G	ATCCCCTC others(197): Show ATCCCCTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGG AGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCA GCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTGAGCATTCC CCTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCT GAGCG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	444	0.0023	204	c.-4+ others(219): Show c.-4+1882_-4+1883insGCTCAGCTCCGAGTGCTGGGAGAGGGGACG CTCAGCTCCGAGTGCTGGGAGAGGGGAATGCTCAGCTCCGAGTGCTGGGA GAGGGGACGCTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCAGCTCCGAG TGCTGGGAGAGGGGACGCTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCA GCTCCGAGTGCTGGGAGAGGGGAT	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
IZUMO3_chr9_24537952_24550897	24546436	C C	CTCCTTTT others(197): Show CTCCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	426	0.0024	204	c.-78 others(213): Show c.-788_-787insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGGA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		540		chr9	TogoVar
JAKMIP2_chr5_147580438_147787728	147764920	A A	AAGAAAGA others(197): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG GAGAG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0178 a0001c0001t0013g0178	1	250	0.0040	204	c.-14 others(225): Show c.-149+17535_-149+17536insCTCTCCCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132161340	C C	CCTCTTCC others(197): Show CCTCTTCCTGTGTGATGCTGGGGGGGGTCTATTCCTGTGTCTTATTGAGG GGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATGCTGGG GGGGTCTCTTCCTGTGTGATGCTGGGGGACCTCTCCCTGTGTGATGCTGG GTGGGCCTCTCCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTGATGCT GGGGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0136 a0004c0011t0001g0136	1	158	0.0063	204	c.222 others(223): Show c.2221-1869_2221-1868insCTCTTCCTGTGTGATGCTGGGGGGGG TCTATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGATGCTGGGGA GCCTCTTCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGG GACCTCTCCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTGATGCTGGG TGGGCCTCTCCCTGTGTGATGCTGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAZF1_chr7_27825577_28185795	28110504	A A	AAAGGAAA others(197): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	206	0.0049	204	c.115 others(223): Show c.115+69958_115+69959insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
KATNIP_chr16_27545144_27785344	27713818	A A	ATTATATA others(197): Show ATTATATATATGTGTATATATATACACATACATATTATATATATGTGTGT GTATATATATACACACACATATTATATATATGTGTGTGTATATATATACA CATACATATTATATATATGTGTGTGTATATATATACACATACATATTATA TATATGTGTGTGTATATGTATATATACACATATTATATATGTGTGTGTGT GTGTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0003 a0010c0013t0003	a0010c0013t0003g0103 a0010c0013t0003g0103	1	152	0.0066	204	c.160 others(223): Show c.1605+4899_1605+4900insTATATATATGTGTATATATATACACA TACATATTATATATATGTGTGTGTATATATATACACACACATATTATATA TATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATGTATATATACA CATATTATATATGTGTGTGTGTGTGTGT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNMB2_chr3_178531436_178849429	178758206	A A	ATATCCAA others(197): Show ATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATAT ATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGA GGATATATATATATATATATATATCCAAGAGGATATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATAT ATATC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	232	0.0043	204	c.-67 others(223): Show c.-67-49136_-67-49135insATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATCT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63442897	C C	CATCACCA others(197): Show CATCACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCA CCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACC ATCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCAT CACCACCACCACCACCACCACCATCACCATCACCACCACCATCACCATCA CCATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00558.hp1 others(54): Show HG00099.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02738.hp1 HG03239.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0001c0008 a0001c0009 others(4): Show a0001c0003 a0001c0008 a0001c0009 a0002c0006 a0002c0019 a0003c0026 a0005c0027	a0001c0003t0003 a0001c0003t0010 a0001c0003t0013 others(22): Show a0001c0003t0003 a0001c0003t0010 a0001c0003t0013 a0001c0003t0015 a0001c0003t0017 a0001c0003t0022 a0001c0003t0029 a0001c0003t0094 a0001c0003t0100 a0001c0003t0102 a0001c0003t0103 a0001c0003t0104 a0001c0008t0027 a0001c0008t0028 a0001c0008t0099 a0001c0009t0003 a0001c0009t0098 a0002c0006t0001 a0002c0006t0016 a0002c0006t0037 a0002c0006t0039 a0002c0006t0101 a0002c0019t0038 a0003c0026t0097 a0005c0027t0105	a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 others(54): Show a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0282 a0001c0003t0003g0284 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0010g0178 a0001c0003t0010g0208 a0001c0003t0010g0253 a0001c0003t0013g0292 a0001c0003t0013g0296 a0001c0003t0013g0299 a0001c0003t0013g0300 a0001c0003t0013g0302 a0001c0003t0013g0303 a0001c0003t0015g0031 a0001c0003t0017g0313 a0001c0003t0017g0319 a0001c0003t0017g0320 a0001c0003t0017g0321 a0001c0003t0022g0111 a0001c0003t0029g0273 a0001c0003t0029g0307 a0001c0003t0094g0014 a0001c0003t0100g0268 a0001c0003t0102g0267 a0001c0003t0103g0301 a0001c0003t0104g0287 a0001c0008t0027g0276 a0001c0008t0027g0310 a0001c0008t0027g0312 a0001c0008t0028g0285 a0001c0008t0028g0289 a0001c0008t0099g0280 a0001c0009t0003g0262 a0001c0009t0003g0281 a0001c0009t0003g0294 a0001c0009t0003g0314 a0001c0009t0098g0261 a0002c0006t0001g0112 a0002c0006t0001g0159 a0002c0006t0016g0270 a0002c0006t0016g0272 a0002c0006t0016g0297 a0002c0006t0016g0309 a0002c0006t0016g0318 a0002c0006t0037g0269 a0002c0006t0037g0271 a0002c0006t0039g0305 a0002c0006t0101g0308 a0002c0019t0038g0290 a0002c0019t0038g0291 a0003c0026t0097g0260 a0005c0027t0105g0293	57	330	0.1727	204	c.691 others(219): Show c.691-367_691-366insAATGGTGATGGTGATGGTGGTGGTGATGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAA TGGTGGTGGTAATGGTGATGGTGATGGTGGTGGTGGTGATGGTGATGGTG GTGATGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGT GATGGTGATGGTGGTGGTGGTGAT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KDM4B_chr19_4964113_5158598	5131538	A A	AGGGGCAG others(197): Show AGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGG GGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCG GGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGA GGAGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03516.hp1 HG01099.hp2 HG03516.hp1	a0014 a0015 a0014 a0015	a0014c0021 a0015c0034 a0014c0021 a0015c0034	a0014c0021t0014 a0015c0034t0012 a0014c0021t0014 a0015c0034t0012	a0014c0021t0014g0031 a0015c0034t0012g0166 a0014c0021t0014g0031 a0015c0034t0012g0166	2	270	0.0074	204	c.178 others(221): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131538	A A	AGGGGCAG others(197): Show AGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGG GGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCG GGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGA GGAGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0002 a0018c0022t0002	a0018c0022t0002g0178 a0018c0022t0002g0178	1	270	0.0037	204	c.178 others(221): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(197): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTG GGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGG AGGGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	270	0.0037	204	c.178 others(221): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG AGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KHDRBS3_chr8_135452456_135652610	135599908	A A	AGCAGCAG others(197): Show AGCAGCAGTGGCAGGCACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGC ACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCAC CAGGCAGCAGTGGCAGGCACCTCCCTCACAGCACCAGGCAGCAGTGGCAG GCACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGC ACCAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	342	0.0029	204	c.808 others(221): Show c.808-6891_808-6890insCCTCACAGCACCAGGCAGCAGTGGCAGG CACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCA CCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCACCAGGCAGCAGTGGCA GGCACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAG CACCAGGCAGCAGTGGCAGGCACCTC	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHSRP_chr19_6408102_6429811	6429132	A A	ACATATAT others(197): Show ACATATATATATAATATATATATTATATATATGTTACATATATATATAAT ATATATATTATATATATGTTACATATATATATAATATATATATTATATAT ATGTTACATATATATATAATATATATATTATATATATGTTACATATATAT AATATATATATTATATATATGTTACATATATATAATATATATATTATATA TATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	386	0.0026	204	c.-44 others(215): Show c.-4432_-4431insACATATATATAATATATATATTATATATATGTAA CATATATATAATATATATATTATATATATGTAACATATATATAATATATA TATTATATATATATGTAACATATATATAATATATATATTATATATATATG TAACATATATATAATATATATATTATATATATATGTAACATATATATAAT ATATATATTATATATATATG	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4322		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45229292	C C	CCAAACAC others(197): Show CCAAACACTCACCTGAAAGATCCCTCTCCACCCCCGCCATCACCACTCAC CTGAAAGATTCCTCTCCACATCCCCACCACCACTCACCTGAAAGATCCCT CTCCACCCCCCCACCACTAAACACTCACCCGAAAGATCCCTCTCCATGCC CCCCCACCACCAAACACTCACCTGAAAGATCCCTCTCCACCCCCCCACCA CCAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0316 a0001c0001t0001g0318	2	398	0.0050	204	c.64+ others(221): Show c.64+11347_64+11348insTTTGGTGGTGGGGGGGTGGAGAGGGATC TTTCAGGTGAGTGTTTGGTGGTGGGGGGGCATGGAGAGGGATCTTTCGGG TGAGTGTTTAGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGGTG GTGGGGATGTGGAGAGGAATCTTTCAGGTGAGTGGTGATGGCGGGGGTGG AGAGGGATCTTTCAGGTGAGTGTTTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229320	T T	TCCCCACC others(197): Show TCCCCACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAA ACACTCACCCGAAAGATCCCTCTCCATGCCCCCCCACCACCAAACACTCA CCTGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAAAGA TCCCTCTCCACCCCCCCACCACCAAACACTCACCTGAAAGATCCCTCTCC ACCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0141 a0001c0001t0009g0141	1	398	0.0025	204	c.64+ others(221): Show c.64+11319_64+11320insGGGGTGGAGAGGGATCTTTCAGGTGAGT GTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGG TTGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGGTGGGGGGGC ATGGAGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGGGTGGAGAGG GATCTTTCAGGTGAGTGGTGGTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar

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