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
COMMD10_chr5_116080025_116298287	116158474	C C	CCTCTCTC others(194): Show CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTGTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCCCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCTCCCTCTC CT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	350	0.0029	201	c.510 others(220): Show c.510+24297_510+24298insTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTGTCTCCCTCTCCTCTCTC TCCCTCTCCTCTCTCTCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTCTCC CTCTCCTCTCTCTCTCCCTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCCGTGTC others(194): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTTACCCACAGATACACGGC CCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0227 a0001c0002t0004g0227	1	348	0.0029	201	c.927 others(216): Show c.927+684_927+685insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGT TACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTCACCCACAGATA CACGGCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTC3_chr15_90524923_90650345	90647358	A A	ACCCCTTC others(194): Show ACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCAC CGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTC CTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCT CCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCC GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	276	0.0036	201	c.52 others(212): Show c.5218_*5219insCCCCTTCTCCTCCTCCACACCTGTCCTCCTCCAC ACTCATCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCC TCCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTC CACACCCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCT CCCCCTCCTCACCCCGT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2014		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647496	T T	TTGTCCTC others(194): Show TTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCCCTCCTCCTCCACAC CCCTTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCCCTCCTCCTCAC CCCTTCTCCTCTCCACATCCCTCCTCCTCACCCCTCCTCCTCCACACCCC TTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACA CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0196 a0002c0002t0015g0196	1	276	0.0036	201	c.53 others(212): Show c.5356_*5357insTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCC CCTCCTCCTCCACACCCCTTGTCCTCCTCCACACCCCTCCTCTGCCTCAC CCCCCTCCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTCCTCACCCCT CCTCCTCCACACCCCTTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCC TCCTCCTCCTCCACACC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2152		chr15	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(194): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATTTATATATTATATGTATATTATGTATACATAATATATT ATATATTATATGTATATTATGTATACATAATATTTATATATTATATGTAT AT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	344	0.0029	201	c.896 others(218): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAATATATTATGTATACATAATATACA TATAATATATAAATATTATGTATACATAATATACATATAATATATAATAT ATTATGTATACATAATATACATATAATATATAATATATTATGTATACATA ATATACATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTU2_chr16_88701503_88720396	88710469	T T	TGTGTGTG others(194): Show TGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACAAATCAG AAGCTGGGTCCACAGCGCGTGTGTGCGGCCCACTCTCAGATGTGTTTACA GCAGGTGCACAAATCAGAAGCTGGGTCCACAGTGCGTGTGTGCGGCCCAC TCTCAGATGTGTTTACAGCAGGTGCACAAATCAGAAGCTGGGTCCACAGC GC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0198 a0004c0005t0001g0198	1	418	0.0024	201	c.282 others(216): Show c.282+363_282+364insAAATCAGAAGCTGGGTCCACAGCGCGTGTG TGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACAAATCAGAAGCTG GGTCCACAGCGCGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGT GCACAAATCAGAAGCTGGGTCCACAGTGCGTGTGTGCGGCCCACTCTCAG ATGTGTTTACAGCAGGTGCAC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTATAT others(194): Show TATTATATAATATATATAATATATATATAATATATAATATATAATATATT ATTATATATATTATAAATTATATAATATATATAATATATATATTATATAT AATATATTATATATTATATAATATATAATATATATAATATATAATATATT ATATATAATATATTATATATTATATAATATATATATAATATATAATATAT AA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	240	0.0042	201	c.36 others(212): Show c.3650_*3651insTTATATATTATATATTATATATATATTATATAAT ATATAATATATTATATATAATATATTATATATTATATATATTATATATTA TATAATATATAATATATTATATATAATATATATATTATATATATTATATA ATTTATAATATATATAATAATATATTATATATTATATATTATATATATAT TATATATATTATATAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar
DCLK1_chr13_35763652_36136382	35957905	G G	GTCACCAC others(194): Show GTCACCACCACCACTGCTATAACCATCACCACCGCTATAACCACCATCAC CACCACCACTACCACTACTGTAACCATCACCACCATCACTGCTATAACCA CCACCACCACCACTATAACCATCACCACCATCACCACTATAACCACCACC ACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTGTAAC CA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	230	0.0044	201	c.724 others(220): Show c.724-10449_724-10448insTGGTTACAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGATGGT GGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGA TGGTTACAGTAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTG ATGGTTATAGCAGTGGTGGTGGTGA	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(194): Show CGGGGGGTGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGCGGGTGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTG GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0166 a0001c0001t0005g0166	1	367	0.0027	201	c.-42 others(212): Show c.-4238_-4237insGGGGGGTGGGTGTGGGGGGGTGAGGGAGTCGGGG GGTGCGGGTGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAG TCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGA GGGAGTCGGGGGGTGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DHRSX_chrX_2214506_2505976	2314304	G G	GAAGGAGG others(194): Show GAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGA AGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAGG GAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGG GA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp1 HG01167.hp1 HG01496.hp1	a0003 a0011 a0003 a0011	a0003c0016 a0011c0007 a0003c0016 a0011c0007	a0003c0016t0002 a0011c0007t0001 a0003c0016t0002 a0011c0007t0001	a0003c0016t0002g0040 a0011c0007t0001g0028 a0003c0016t0002g0040 a0011c0007t0001g0028	2	50	0.0400	201	c.287 others(220): Show c.287-22702_287-22701insTCCCTCCCTCCCTCCTTCCCTCCTTC CCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCC TCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTC CCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCC TCCTTCCCTCCCTCCCTCCCTCCTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DOCK1_chr10_126900428_127457516	126948017	G G	GTGGTTGG others(194): Show GTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0001 a0001c0065t0001	a0001c0065t0001g0046 a0001c0065t0001g0046	1	136	0.0074	201	c.47- others(218): Show c.47-22681_47-22680insTGGTAGTATTACTGTTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948175	T T	TTGGTGAT others(194): Show TTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGG TTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTT GG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0062 a0002c0062	a0002c0062t0001 a0002c0062t0001	a0002c0062t0001g0016 a0002c0062t0001g0016	1	136	0.0074	201	c.47- others(218): Show c.47-22522_47-22521insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGT TGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	51015961	A A	ATGATATA others(194): Show ATGATATATATCATATATATCATATATATGATATATATCATATATATGAT ATATATCATATATATCATATATATCATATATATCATATATATATCATATA TATCATATATATCATATATATCATATATATATCATATATATCATATATAT GATATATATATCATATATATCATATATATCATATATATGATATATATATC AT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	212	0.0047	201	c.316 others(220): Show c.316-48487_316-48486insTGATATATATCATATATATCATATAT ATGATATATATCATATATATGATATATATCATATATATCATATATATCAT ATATATCATATATATATCATATATATCATATATATCATATATATCATATA TATATCATATATATCATATATATGATATATATATCATATATATCATATAT ATCATATATATGATATATATATCAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015961	A A	ATGATATA others(194): Show ATGATATATATCATATATATCATATATATGATATATATCATATATATGAT ATATATCATATATATCATATATATCATATATATCATATATATATCATATA TATCATATATATGATATATATATCATATATATCATATATATCATATATAT GATATATATATCATATATATCATATATATCATATATATGATATATATATC AT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0064 a0001c0001t0011g0064	1	212	0.0047	201	c.316 others(220): Show c.316-48487_316-48486insTGATATATATCATATATATCATATAT ATGATATATATCATATATATGATATATATCATATATATCATATATATCAT ATATATCATATATATATCATATATATCATATATATGATATATATATCATA TATATCATATATATCATATATATGATATATATATCATATATATCATATAT ATCATATATATGATATATATATCAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK8_chr9_209865_470255	400382	T T	TCACCACC others(194): Show TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCATCACC ACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCACCACCTCCTCCTTCACCATCACCATCACCACCATCACC TC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0013 a0013	a0013c0080 a0013c0080	a0013c0080t0001 a0013c0080t0001	a0013c0080t0001g0061 a0013c0080t0001g0061	1	256	0.0039	201	c.323 others(220): Show c.3234+1128_3234+1129insCCACCTCCACCATCACCACCACCTCC ACCATCACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCA CCTCCACCATCACCACCACCACCTCCACCACCACCTCCTCCTTCACCATC ACCATCACCACCATCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400715	A A	ACCACCAC others(194): Show ACCACCACCTCCTCCACCACCACCACCACCTCCCCCACTACCAACAGCTC CTTCACCATCAACACAATATCCACCACCACCATCACCACCACCTCCACCA TCACCTCCACCACCACCACCTCCTCCACCATCACCACCAGCTCCACCATC ACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCAC CT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0115 a0002c0115	a0002c0115t0001 a0002c0115t0001	a0002c0115t0001g0037 a0002c0115t0001g0037	1	256	0.0039	201	c.323 others(220): Show c.3234+1456_3234+1457insCCACCACCTCCTCCACCACCACCACC ACCTCCCCCACTACCAACAGCTCCTTCACCATCAACACAATATCCACCAC CACCATCACCACCACCTCCACCATCACCTCCACCACCACCACCTCCTCCA CCATCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(194): Show CCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACC ATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCAC CACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCA CCACCATCTTCACCATCACCACCACCTCCACCACCACCAGAATCTTCACC AA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0053 a0053	a0053c0139 a0053c0139	a0053c0139t0003 a0053c0139t0003	a0053c0139t0003g0177 a0053c0139t0003g0177	1	256	0.0039	201	c.323 others(220): Show c.3234+1467_3234+1468insTCCACCATCACCACCACCTCCACCAC CACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCA CCTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCATCACCACC ACCATCTTCACCATCACCACCATCTTCACCATCACCACCACCTCCACCAC CACCAGAATCTTCACCAACACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400884	C C	CCACCACC others(194): Show CCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACC ATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAA TATCACTACCTCCTCCACCATCACCACCATCACCTCCACCACCACCACCT CCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCTCCTCCACT AT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0138 a0003c0001t0001g0138	1	256	0.0039	201	c.323 others(220): Show c.3234+1632_3234+1633insGTCACCACCTTCTCCACCACCACCAT CTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCT TTCCTATCACCTCCAATATCACTACCTCCTCCACCATCACCACCATCACC TCCACCACCACCACCTCCTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCTCCTCCACTATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(194): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT AATATATATATAATATATATATTATATATAATATATATATATAATATATA TATAATATATATATAATATATATAATATATATATAATATATATATTTAAA AG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	298	0.0034	201	c.554 others(218): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATAATATATATATAATATATATATTATATATAATATATA TATATAATATATATATAATATATATATAATATATATAATATATATATAAT ATATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(194): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT TATATATATAATATATATATAATATATATATTATATATAATATATATATA TAATATATATATTATATATATATAATATATATATAATATATATATTTAAA AG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01346.hp1 others(14): Show HG00738.hp2 HG01081.hp1 HG01346.hp1 HG01516.hp1 HG03704.hp2 HG03927.hp2 NA18941.hp1 NA18943.hp2 NA18950.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18966.hp2 NA18968.hp2 NA18983.hp1 NA18990.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0050 others(13): Show a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0233	17	298	0.0571	201	c.554 others(218): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATTATATATATAATATATATATAATATATATATTATATA TAATATATATATATAATATATATATTATATATATATAATATATATATAAT ATATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(194): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT TATATATATAATATATATATAATATATATATTATATATATTATATATATA TAATATATATATTATATATATATAATATATATATAATATATATATTTAAA AG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	298	0.0034	201	c.554 others(218): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATTATATATATAATATATATATAATATATATATTATATA TATTATATATATATAATATATATATTATATATATATAATATATATATAAT ATATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(194): Show AATATATATAATATGTATTATATATATAATATGTAATATATATAATATGT ATTATAATATATATATAATATATAATATATAATATATATATAATAAATAT ATATAATATATATATAATATATATATTTAAAAGTATATATATATATATAA TATATATATATATAATATATATATATAATATATATATATATAATATATAT AT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0250 a0003c0003t0001g0250	1	298	0.0034	201	c.554 others(218): Show c.5542-317_5542-316insTATATAATATGTATTATATATATAATAT GTAATATATATAATATGTATTATAATATATATATAATATATAATATATAA TATATATATAATAAATATATATAATATATATATAATATATATATTTAAAA GTATATATATATATATAATATATATATATATAATATATATATATAATATA TATATATATAATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619557	T T	TCCCCTCC others(194): Show TCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCC CTGCAGCTCCATGCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGC TCCCCTGTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	250	0.0040	201	c.-10 others(220): Show c.-107+5842_-107+5843insTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCTGCTCCCCTGTCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH1_chr17_2025153_2048898	2035388	A A	AAGGGCCC others(194): Show AAGGGCCCTGCCTGCGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCC CTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAG TGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGT CCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGACG AG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG00735.hp1 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0146 a0001c0001t0002g0106 a0001c0001t0002g0146	2	392	0.0051	201	c.279 others(216): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTC CGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGACGA GAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCC CTGCCTGCGGTGGGGAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPP6_chr7_154047398_154899285	154749231	G G	GGAGAGGG others(194): Show GGAGAGGGATGGCGGCTTTACTGAGAGAGTGTGAGGGAGCATAGGATGGG AGAGAGAGGGATGGAGGCTTTACTGAGAAAGGGTGAGAGCATAGGACGGG AGAGAGAGGGATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACA GGAGGGAGAGGGATGGCGGCTTAGAGAGGGTGAGAGAGCATAGGACGGGA GA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0021 a0002c0012t0021	a0002c0012t0021g0035 a0002c0012t0021g0035	1	38	0.0263	201	c.884 others(220): Show c.884-20175_884-20174insCGGCTTTACTGAGAGAGTGTGAGGGA GCATAGGATGGGAGAGAGAGGGATGGAGGCTTTACTGAGAAAGGGTGAGA GCATAGGACGGGAGAGAGAGGGATGGAGGCTTTACTGAGAGAGGGTGAGG GAGCATAGGACAGGAGGGAGAGGGATGGCGGCTTAGAGAGGGTGAGAGAG CATAGGACGGGAGAGAGAGGGATGG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYM_chr18_49031387_49465645	49440882	A A	ATATATTT others(194): Show ATATATTTATATAATATATGACTATATATTATATATTTATATAATATATG ACTATATATTATATATTTATATAATATATGACTATATATTATATATTTAT ATAATATATGACTATATATTATATATTTATATAATATATGACTATATATT ATATATTTATATAATATATGACTATATATTATATATTTATATAATATATG AC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0286 a0001c0001t0022g0286	1	290	0.0035	201	c.-53 others(220): Show c.-53-10436_-53-10435insGTCATATATTATATAAATATATAATA TATAGTCATATATTATATAAATATATAATATATAGTCATATATTATATAA ATATATAATATATAGTCATATATTATATAAATATATAATATATAGTCATA TATTATATAAATATATAATATATAGTCATATATTATATAAATATATAATA TATAGTCATATATTATATAAATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537972	A A	ATAATTTA others(194): Show ATAATTTATATATATAATATATATATATAATTTATATATATTATATATAT ATAATTTATATATATAATATATATATATAAATTATATATATAATATATAT ATAATTTATATATATAATATATATATAATTTATATATATAATTATATATA TAATTTATATATATAATATATATAATTTATATATATAATTTATATATATA AT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	336	0.0030	201	c.739 others(216): Show c.739-869_739-868insATTATATATATAAATTATATATATAAATTA TATATATTATATATATAAATTATATATATAATTATATATATAAATTATAT ATATATTATATATATAAATTATATATATATTATATATATAATTTATATAT ATATATTATATATATAAATTATATATATATAATATATATAAATTATATAT ATATATTATATATATAAATTA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407927	C C	CGGCTGGC others(194): Show CGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGCG GCTGGCCGGGTGGGGGGATGACCCCCCCACCTCCCTCCTGGACGGGGCGG CTGGCCGGGTGGGGGGCTGACCTCCCCACCTCCCTCCCGGAAGGGGTGGC TGGCTGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGG CT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03486.hp2 NA20300.hp2 HG00735.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0050 a0001c0002t0015g0169 a0001c0002t0015g0050 a0001c0002t0015g0169	3	422	0.0071	201	c.145 others(218): Show c.145+3384_145+3385insTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCACCT CCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCACCTC CCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4G3_chr1_20801479_21181897	21179788	A A	ATATATTA others(194): Show ATATATTATATATAATATATTATATATATTATATATTATATATAATACAT TATATATTATATAATATATATAATATATTATATATTATATATAATATATT ATATATATAATATAATATATATAATATATATTTAATATATTATATATAAT ATATATTATATATTTAATATATTACATATAATATATATTATATATTTAAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	312	0.0032	201	c.-35 others(212): Show c.-3523_-3522insATATTAAATATATAATATATATTATATGTAATAT ATTAAATATATAATATATATTATATATAATATATTAAATATATATTATAT ATATTATATTATATATATAATATATTATATATAATATATAATATATTATA TATATTATATAATATATAATGTATTATATATAATATATAATATATATAAT ATATTATATATAATATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2892		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179800	A A	ATATTATA others(194): Show ATATTATATATATTATATATTATATATAATACATTATATATATTATATAT TATATATAATACATTATATATATTATATAATATATATAATATATTATATA TAATATATAATATATTATATATATAATATAATATATATAATATATATTTA ATATATTATATATAATATATATTATATATTTAATATATTATATATAATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	312	0.0032	201	c.-35 others(212): Show c.-3535_-3534insATATATTATATATAATATATTAAATATATAATAT ATATTATATATAATATATTAAATATATATTATATATATTATATTATATAT ATAATATATTATATATTATATATAATATATTATATATATTATATAATATA TATAATGTATTATATATAATATATAATATATATAATGTATTATATATAAT ATATAATATATATAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2904		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TATACATA others(194): Show TATACATAATATATAATATATAATATATATATTATATATATATTATGTAT AATATATATATAATATATTATACATAATGTATAATATATATATAATATAT TATACATAATGTATAATATATATATAATATATTATACATAATATATAATA TATATTACGTAATATATTACATATATATAATATATATTACGTAATATATT AC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG04199.hp1 NA18960.hp2 HG00408.hp2 HG04199.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0010g0220 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0010g0220	3	312	0.0096	201	c.-38 others(212): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATATGT AATATATTACGTAATATATATTATATATTATGTATAATATATTATATATA TATTATACATTATGTATAATATATTATATATATATTATACATTATGTATA ATATATTATATATATATTATACATAATATATATATAATATATATATTATA TATTATATATTATGTAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
ELF2_chr4_139052265_139182218	139151032	A A	AAAAAAAA others(194): Show AAAAAAAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	342	0.0029	201	c.-25 others(222): Show c.-251-11536_-251-11535insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCCTTTCTTTTTTTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELL_chr19_18437663_18527070	18442176	C C	CCACACCC others(194): Show CCACACCCTAACACATACCACACCCACACCACACACCCACACACACCACA CCCACCCCAACACACACCACACACCCCACACTGCACACCCCAACACACCA CACCCTCACACCACACACCAACACACACCACACCCACACAACACATAACA AACCACACCCACACCCAACACACATACCACATCCACACATCCCAACACAC CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(90): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp1 HG02109.hp1 HG02132.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18747.hp2 NA18945.hp1 NA18951.hp2 NA18961.hp1 NA18964.hp1 NA18970.hp1 NA18975.hp1 NA18985.hp2 NA19002.hp1 NA19011.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19067.hp1 NA19074.hp2 NA19080.hp1 NA19081.hp2 NA19086.hp1 NA19090.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0010 a0004c0009 others(1): Show a0001c0001 a0001c0010 a0004c0009 a0007c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0010t0002 a0004c0009t0002 a0007c0008t0002	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0017 others(89): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0107 a0001c0001t0015g0041 a0001c0010t0002g0031 a0004c0009t0002g0038 a0007c0008t0002g0066	93	244	0.3812	201	c.25 others(212): Show c.2575_*2576insTGGTGTGTTGGGATGTGTGGATGTGGTATGTGTG TTGGGTGTGGGTGTGGTTTGTTATGTGTTGTGTGGGTGTGGTGTGTGTTG GTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGGTGTGT GGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGTGTG GTATGTGTTAGGGTGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		486		chr19	TogoVar
ELOVL6_chr4_110040846_110203615	110084113	T T	TATTTACA others(194): Show TATTTACATGTTATATATCATATATATCATATATATGATATATATGATAT ATAACATATATATGATATATATGATATATAACATATATGTGATGATATAT ATGATATATATAACATATATGTGATGATATATATGATATATATAACATAT ATATGATATATATGATATATACATGTTATATATCATATATATCATATATA TG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp2 others(45): Show HG00558.hp2 HG00597.hp1 HG00735.hp2 HG01168.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02280.hp1 HG02523.hp1 HG02559.hp2 HG02922.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03831.hp1 HG04184.hp2 NA18941.hp2 NA18943.hp2 NA18949.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp2 NA18984.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0021 a0001c0001t0034 a0001c0001t0044 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0062 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 others(45): Show a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0182 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0263 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0142 a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0002g0314 a0001c0001t0003g0205 a0001c0001t0003g0292 a0001c0001t0005g0134 a0001c0001t0005g0197 a0001c0001t0005g0312 a0001c0001t0006g0194 a0001c0001t0016g0098 a0001c0001t0016g0112 a0001c0001t0016g0114 a0001c0001t0016g0177 a0001c0001t0021g0018 a0001c0001t0021g0107 a0001c0001t0034g0026 a0001c0001t0044g0100 a0001c0001t0052g0191 a0001c0001t0053g0237 a0001c0001t0054g0284 a0001c0001t0062g0116 a0001c0001t0070g0218 a0001c0001t0073g0126 a0001c0001t0074g0015	48	338	0.1420	201	c.221 others(220): Show c.221+21383_221+21384insCATATATATGATATATATGATATATA ACATGTATATATCATATATATCATATATATGTTATATATATCATATATAT CATCACATATATGTTATATATATCATATATATCATCACATATATGTTATA TATCATATATATCATATATATGTTATATATCATATATATCATATATATGA TATATATGATATATAACATGTAAAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084113	T T	TATTTACA others(194): Show TATTTACATGTTATATATCATATATATCATATATATGATATATATGATAT ATAACATATATATGATATATATGATATATAACATATATGTGATGATATAT ATGTTATATATAACATATATGTGATGATATATATGATATATATAACATAT ATATGATATATATGATATATACATGTTATATATCATATATATCATATATA TG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	338	0.0030	201	c.221 others(220): Show c.221+21383_221+21384insCATATATATGATATATATGATATATA ACATGTATATATCATATATATCATATATATGTTATATATATCATATATAT CATCACATATATGTTATATATAACATATATATCATCACATATATGTTATA TATCATATATATCATATATATGTTATATATCATATATATCATATATATGA TATATATGATATATAACATGTAAAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
EML1_chr14_99788413_99947060	99927951	G G	GTGGTGGA others(194): Show GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0280 a0001c0004t0003g0280	1	288	0.0035	201	c.190 others(220): Show c.1909+7077_1909+7078insTGGAGGTGGTGGTGGTGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGATGGTGGTGATGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ERBIN_chr5_65921575_66087546	66018532	T T	TAATATAT others(194): Show TAATATATATTATATTATATAATATATATTATATATTATAATATATAATA TATATTATATAATATATATTATATATTATATAATATATATTATATAATAT ATATTATATATTATATAATATATATTATATATTATATAATATATAATATA TATTATATAATATATAATATATAATATATATTATATATTATATAATATAT AA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	306	0.0033	201	c.534 others(218): Show c.534-2790_534-2789insAATATATATTATATTATATAATATATAT TATATATTATAATATATAATATATATTATATAATATATATTATATATTAT ATAATATATATTATATAATATATATTATATATTATATAATATATATTATA TATTATATAATATATAATATATATTATATAATATATAATATATAATATAT ATTATATATTATATAATATATAA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar
ERFL_chr19_41902704_41933449	41914555	C C	CTTCCACC others(194): Show CTTCCACCATCTCTGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCC TCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTC TCCCTCCCCCTCCACCATCTCTGTCTCTGTCTCTCCCTCCCCTTCCACCG TCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCTCCCTCC CT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0239	1	330	0.0030	201	c.-13 others(218): Show c.-13-1624_-13-1623insAGGGAGGGAGAGACAGAGACAGAGATGG TGGAAGGGGAGGGAGAGACAGAGACGGTGGAAGGGGAGGGAGAGACAGAG ACAGAGATGGTGGAGGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGG AGAGACAGAGATGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAAGGG AGGGAGAGACAGAGATGGTGGAA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914864	A A	ATCTCTGT others(194): Show ATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTC CACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTATCCCTCCC CTTCCACCGTCTCTGTCTCTCCCTCCCCCTCCACCATCTCCGTCTCTGTC TCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTATCCCTCCCCTTCCAC CG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	330	0.0030	201	c.-13 others(218): Show c.-13-1933_-13-1932insCGGTGGAAGGGGAGGGATAGACAGAGAC AGAGATGGTGGAAGGGGAGGGAGAGACAGAGACGGAGATGGTGGAGGGGG AGGGAGAGACAGAGACGGTGGAAGGGGAGGGATAGACAGAGATGGTGGAA GGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAGACAGAGATGGT GGAAGGGGAGGGAGAGACAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ESYT2_chr7_158725997_158834509	158729237	G G	GGGGGAGG others(194): Show GGGGGAGGAGCAAGCGTGGAGGTGGGGGGGGAGGAGCAAATGTGGAGGTG CTGGGGGGAGAAGCAAGCGTGGAGGTGGGGGGAGGAGCAAATGTGGAGGT GCTGGGGGGAGGAGCAAGCGTGGAGGTGGGGGGAGGAGCAAGCGTGGAGG TGAGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAAGCGTGGAG GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02895.hp2 HG02976.hp2 others(3): Show HG02717.hp2 HG02895.hp2 HG02976.hp2 HG03486.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0001t0009 a0001c0006t0009 a0001c0001t0008 a0001c0001t0009 a0001c0006t0009	a0001c0001t0008g0145 a0001c0001t0008g0162 a0001c0001t0008g0165 others(3): Show a0001c0001t0008g0145 a0001c0001t0008g0162 a0001c0001t0008g0165 a0001c0001t0009g0152 a0001c0001t0009g0161 a0001c0006t0009g0190	6	370	0.0162	201	c.49 others(212): Show c.4969_*4970insACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCA CATTTGCTCCTCCCCTCACCTCCACGCTTGCTCCTCCCCCCACCTCCACG CTTGCTCCTCCCCCCAGCACCTCCACATTTGCTCCTCCCCCCACCTCCAC GCTTGCTTCTCCCCCCAGCACCTCCACATTTGCTCCTCCCCCCCCACCTC CACGCTTGCTCCTCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1759		chr7	TogoVar
FBLN1_chr22_45497883_45606135	45568704	G G	GGAGAATG others(194): Show GGAGAATGCTCCTGTAGGGGAATGCTCCTTCTGTAGGGGAGTGCTCCTTC TGTAGGGGAATGCCTCTTCTGTAGGGCATGCTCCTTCTGTAGGAGAATGC TCCTGTAGGGGAATGCTCCTTCTGTAGAGGAATGCTCCTTCTGTAGGGGA GTGCTCCTTCTGTAGGGGAATGCCTCTTCTGTAGGGGAATGCTCCTTCTG TA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02818.hp1 others(1): Show HG02572.hp1 HG02717.hp2 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 a0001c0024t0001g0191	4	346	0.0116	201	c.169 others(220): Show c.1698-5806_1698-5805insAGAATGCTCCTGTAGGGGAATGCTCC TTCTGTAGGGGAGTGCTCCTTCTGTAGGGGAATGCCTCTTCTGTAGGGCA TGCTCCTTCTGTAGGAGAATGCTCCTGTAGGGGAATGCTCCTTCTGTAGA GGAATGCTCCTTCTGTAGGGGAGTGCTCCTTCTGTAGGGGAATGCCTCTT CTGTAGGGGAATGCTCCTTCTGTAG	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FGFR4_chr5_177081915_177103144	177097100	C C	CTCCTCCT others(194): Show CTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCT CT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0048 a0003c0006t0001g0048	1	372	0.0027	201	c.215 others(218): Show c.2154-191_2154-190insCCTCCTCCTCCTCCTCCTCTTCCTCCTC CTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTG CTCCTCTTCCTCCTCCTCCTCTT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGL1_chr8_17859389_17900524	17883094	G G	GTAATATA others(194): Show GTAATATATTAAATATATAATATATATCATATGTAATATATTAAATATAT AATATATATCATATGTAATATATTAAATATATAATATATATCGTATATAA TATATTAAATAATATATAATATATATCGTATATAATATATTAAATAATAT ATAATATATATCGTATATAATATATTAAATAATATATAATATATATCGTA TA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18987.hp2 NA18960.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	366	0.0055	201	c.64- others(214): Show c.64-916_64-915insTATACGATATATATTATATATTATTTAATATA TTATATACGATATATATTATATATTATTTAATATATTATATACGATATAT ATTATATATTATTTAATATATTATATACGATATATATTATATATTTAATA TATTACATATGATATATATTATATATTTAATATATTACATATGATATATA TTATATATTTAATATATTA	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FGL1_chr8_17859389_17900524	17883094	G G	GTAATATA others(194): Show GTAATATATTAAATATATAATATATATCATATGTAATATATTAAATATAT AATATATATCGTATGTAATATATTAAATATATAATATATATCGTATATAA TATATTAAATAATATATAATATATATCGTATATAATATATTAAATAATAT ATAATATATATCGTATATAATATATTAAATAATATATAATATATATCGTA TA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	366	0.0027	201	c.64- others(214): Show c.64-916_64-915insTATACGATATATATTATATATTATTTAATATA TTATATACGATATATATTATATATTATTTAATATATTATATACGATATAT ATTATATATTATTTAATATATTATATACGATATATATTATATATTTAATA TATTACATACGATATATATTATATATTTAATATATTACATATGATATATA TTATATATTTAATATATTA	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FMN1_chr15_32760544_33199714	32993285	C C	CTTATAAA others(194): Show CTTATAAACTTCATTTAGCAAATTTGAAAATTATCATTGTTCTATGTTTT CTCAGTTAATCCTTTAAATTATGTCTAAAGGATCTATTTGCCATAGATAA GGGTCATGCCATATATAGTTTTAAAACAAAACAAACAGAACTGTGTTATA CAGACACCTACTGCAGCTTTCAAAGACAGTACAAGAAACTGCCCCCTGTC TA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18906.hp2 HG02886.hp2 NA18906.hp2	a0001 a0013 a0001 a0013	a0001c0070 a0013c0033 a0001c0070 a0013c0033	a0001c0070t0066 a0013c0033t0031 a0001c0070t0066 a0013c0033t0031	a0001c0070t0066g0159 a0013c0033t0031g0008 a0001c0070t0066g0159 a0013c0033t0031g0008	2	196	0.0102	201	c.222 others(222): Show c.2223+14528_2223+14728dupTAGACAGGGGGCAGTTTCTTGTAC TGTCTTTGAAAGCTGCAGTAGGTGTCTGTATAACACAGTTCTGTTTGTTT TGTTTTAAAACTATATATGGCATGACCCTTATCTATGGCAAATAGATCCT TTAGACATAATTTAAAGGATTAACTGAGAAAACATAGAACAATGATAATT TTCAAATTTGCTAAATGAAGTTTATAA	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	7/20			chr15	TogoVar
FOXK2_chr17_82514732_82609602	82586401	C C	CGGAGGGG others(194): Show CGGAGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC CGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC GGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC CGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC GG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0066 a0001c0001t0016g0066	1	308	0.0033	201	c.157 others(218): Show c.1576+203_1576+204insAGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTGGGCGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXN3_chr14_89151177_89422233	89362272	T T	TCCACCAC others(194): Show TCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCAC CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCA CCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCC AGCACCACCACCTCCAGCACCACCTCCACCACTACCACCTCCACCACTAC CA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	230	0.0044	201	c.544 others(220): Show c.544-11465_544-11464insTGGTAGTGGTGGAGGTGGTAGTGGTG GAGGTGGTGCTGGAGGTGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTAGT GCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGG TAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAG GTAGTGCTGGAGGTGGTAGTGGTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FTCD_chr21_46131779_46160579	46140661	T T	TCCTCGTC others(194): Show TCCTCGTCCACCTTCACGTGGCTCACAGGGAGTGTAAACCAATCCAGCAC TCCCCGTCTGCCTTCACATTGCTCACAGGGAGCGTAAACCAACCCAGCAC TCCTCGTCCACCTTCACATTGTTCGCAGGGAATGTAAATCAACCCAGCCC TCCCCGTCCACCTTCGCATTGCTCAGAGGGAGTGTAAACCAACCCAGCAC TC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01517.hp1 others(4): Show HG00140.hp2 HG00738.hp1 HG01517.hp1 HG01943.hp1 HG02280.hp1 HG02615.hp1 HG02717.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0032 a0004c0008 a0001c0002 a0001c0032 a0004c0008	a0001c0002t0001 a0001c0032t0001 a0004c0008t0007 a0001c0002t0001 a0001c0032t0001 a0004c0008t0007	a0001c0002t0001g0084 a0001c0002t0001g0115 a0001c0002t0001g0116 others(4): Show a0001c0002t0001g0084 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0032t0001g0182 a0004c0008t0007g0015 a0004c0008t0007g0063 a0004c0008t0007g0079	7	230	0.0304	201	c.126 others(220): Show c.1261-1739_1261-1738insGAGTGCTGGGTTGGTTTACACTCCCT CTGAGCAATGCGAAGGTGGACGGGGAGGGCTGGGTTGATTTACATTCCCT GCGAACAATGTGAAGGTGGACGAGGAGTGCTGGGTTGGTTTACGCTCCCT GTGAGCAATGTGAAGGCAGACGGGGAGTGCTGGATTGGTTTACACTCCCT GTGAGCCACGTGAAGGTGGACGAGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FUT10_chr8_33365824_33478146	33462169	G G	GAGGGGAG others(194): Show GAGGGGAGAGGAGGGGACAGTGGGGAGGGGAGTGGAGGGGAGGGGGGAAG TGAGGGAAGGGGGGGAGAGAGGAGGGGAGGGAGTGGAGGGCAGGGGAGGC AGAGAGAGGAGGGAAGGGAGTGGAGGGCAGGGGAGGCAGAGAGAGGAGGG AAGGGAGTGGAGGGCAGGGGAGGGGGAGAGGAGGGGAGGGGAGGGGAAGG GA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG02155.hp2 others(4): Show HG00438.hp2 HG00609.hp1 HG02155.hp2 HG02602.hp2 HG02698.hp1 NA18974.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0001 a0002c0002t0021 a0001c0003t0003 a0002c0002t0001 a0002c0002t0021	a0001c0003t0003g0030 a0002c0002t0001g0026 a0002c0002t0001g0027 others(4): Show a0001c0003t0003g0030 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0021g0268	7	268	0.0261	201	c.-27 others(218): Show c.-273-445_-273-444insTCCCTTCCCCTCCCCTCCCCTCCTCTCC CCCTCCCCTGCCCTCCACTCCCTTCCCTCCTCTCTCTGCCTCCCCTGCCC TCCACTCCCTTCCCTCCTCTCTCTGCCTCCCCTGCCCTCCACTCCCTCCC CTCCTCTCTCCCCCCCTTCCCTCACTTCCCCCCTCCCCTCCACTCCCCTC CCCACTGTCCCCTCCTCTCCCCT	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	1/4			chr8	TogoVar
GABRG3_chr15_26966181_27546984	27306943	T T	TACAATAT others(194): Show TACAATATAAACATGTTTATATATAAACATACAATATAAACATGTTTATA TATAAACATACAATATAAACATGTTTATATATAAACATACAATATAAACA TGTTTATATATAAACATACAATATAAACATGTTTATATATAAACATACAA TATAAACATGTTTATATATAAACATACAATATAAACATGTTTATATATAA AC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0023 a0001c0013t0023	a0001c0013t0023g0006 a0001c0013t0023g0006	1	92	0.0109	201	c.271 others(220): Show c.271-19865_271-19864insCAATATAAACATGTTTATATATAAAC ATACAATATAAACATGTTTATATATAAACATACAATATAAACATGTTTAT ATATAAACATACAATATAAACATGTTTATATATAAACATACAATATAAAC ATGTTTATATATAAACATACAATATAAACATGTTTATATATAAACATACA ATATAAACATGTTTATATATAAACA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar

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