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
DLGAP2_chr8_732628_1713476	1315834	G G	GTTTAAAA others(203): Show GTTTAAAAATAGAGTGTGTGCGAGTGCAGCGTCTCTCCAACAGTGGTCTA CACTCGAGAAACTCGGCAGTGTTTAAAAATAGAGCCTGTGCGAGTGCAGC GTCTCTCCAACGGTGGTCTACACTCGAGAAACTTGGCAGCTTTTAAAAAT AGAGCGTGTGCGAGTGCAGCCTCTCTCCAACAGTGGTCTACACTCGAGAA ACTTCGCAGCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01361.hp2 HG01891.hp1 others(1): Show HG01071.hp2 HG01361.hp2 HG01891.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0011 others(1): Show a0001c0002 a0001c0003 a0001c0011 a0002c0001	a0001c0002t0023 a0001c0003t0024 a0001c0011t0015 others(1): Show a0001c0002t0023 a0001c0003t0024 a0001c0011t0015 a0002c0001t0011	a0001c0002t0023g0005 a0001c0003t0024g0003 a0001c0011t0015g0002 others(1): Show a0001c0002t0023g0005 a0001c0003t0024g0003 a0001c0011t0015g0002 a0002c0001t0011g0001	4	40	0.1000	210	c.106 others(229): Show c.106+56964_106+56965insTGTGTGCGAGTGCAGCGTCTCTCCAA CAGTGGTCTACACTCGAGAAACTCGGCAGTGTTTAAAAATAGAGCCTGTG CGAGTGCAGCGTCTCTCCAACGGTGGTCTACACTCGAGAAACTTGGCAGC TTTTAAAAATAGAGCGTGTGCGAGTGCAGCCTCTCTCCAACAGTGGTCTA CACTCGAGAAACTTCGCAGCTTTTAAAAATAGAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1352015	A A	ATCCTGAC others(203): Show ATCCTGACTGTGTGTGGAAAGGCCGTGCGGGTCCTGAGTGTGCGTGGAAC GGCCGTGCGGGTCCTGACTGTGTTTGGAAAGGCCGTGCGGGTCCTGAGTG TGTGTGGAAACGCCGTGCGGGTCCTGACTGTGTGTGGAAAGGCCGTGCGG ATCCTGACTGTGTGTGGAAAGGCCGTGCGGGTCCTGAGTGTGTGTGGAAC GGCCGTGCGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp1 NA18906.hp1 HG02818.hp1 HG03486.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0008 a0001c0002 a0002c0001 a0004c0008	a0001c0002t0027 a0002c0001t0005 a0004c0008t0016 a0001c0002t0027 a0002c0001t0005 a0004c0008t0016	a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0029 a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0029	3	40	0.0750	210	c.106 others(229): Show c.106+93173_106+93174insCGTGGAACGGCCGTGCGGGTCCTGAC TGTGTTTGGAAAGGCCGTGCGGGTCCTGAGTGTGTGTGGAAACGCCGTGC GGGTCCTGACTGTGTGTGGAAAGGCCGTGCGGATCCTGACTGTGTGTGGA AAGGCCGTGCGGGTCCTGAGTGTGTGTGGAACGGCCGTGCGGGTCCTGAC TGTGTGTGGAAAGGCCGTGCGGGTCCTGAGTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC4_chr11_64225548_64239281	64237115	G G	GGGAGAGG others(203): Show GGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGACAGA CAGAGACAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	338	0.0030	210	c.29 others(221): Show c.2931_*2932insGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGG AGAGGGAGAGACAGACAGAGACAGAC	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2835		chr11	TogoVar
DOCK1_chr10_126900428_127457516	126948320	G G	GTGGTGGT others(203): Show GTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0045 a0001c0005t0001g0045	1	136	0.0074	210	c.47- others(227): Show c.47-22352_47-22351insGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GATGGTGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	51015953	T T	TATGATAT others(203): Show TATGATATATATATCATATATATGAAATATATGATATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATATGATATATATCATATATATCATATATATCATATATATCATATATA TATCATATATATCATATATATGATATATATATCATATATATCATATATAT CATATATATGA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19087.hp1 NA18984.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0170 a0001c0001t0001g0053 a0001c0001t0001g0170	2	212	0.0094	210	c.316 others(229): Show c.316-48495_316-48494insATGATATATATATCATATATATGAAA TATATGATATATATATCATATATATCATATATATGATATATATCATATAT ATCATATATATGATATATATCATATATATGATATATATCATATATATCAT ATATATCATATATATCATATATATATCATATATATCATATATATGATATA TATATCATATATATCATATATATCATATATATGA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015953	T T	TATGATAT others(203): Show TATGATATATATATCATATATATGAAATATATGATATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATATGATATATATCATATATATCATATATATCATATATATCATATATA TATCATATATATCATATATATGATATATATATGATATATATCATATATAT CATATATATGA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	212	0.0047	210	c.316 others(229): Show c.316-48495_316-48494insATGATATATATATCATATATATGAAA TATATGATATATATATCATATATATCATATATATGATATATATCATATAT ATCATATATATGATATATATCATATATATGATATATATCATATATATCAT ATATATCATATATATCATATATATATCATATATATCATATATATGATATA TATATGATATATATCATATATATCATATATATGA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015953	T T	TATGATAT others(203): Show TATGATATATATATCATATATATGAAATATATGATATATATATCGTATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATATGATATATATCATATATATCATATATATCATATATATCATATATA TATCATATATATCATATATATGATATATATATCATATATATCATATATAT CATATATATGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0082 a0001c0001t0010g0082	1	212	0.0047	210	c.316 others(229): Show c.316-48495_316-48494insATGATATATATATCATATATATGAAA TATATGATATATATATCGTATATATCATATATATGATATATATCATATAT ATCATATATATGATATATATCATATATATGATATATATCATATATATCAT ATATATCATATATATCATATATATATCATATATATCATATATATGATATA TATATCATATATATCATATATATCATATATATGA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015961	A A	ATGATATA others(203): Show ATGATATATATCATATATATCATATATATGATATATATCATATATATGAT ATATATCATATATATCATATATATCATATATATCATATATATATCATATA TATCATATATATGATATATATATCATATATATCATATATATCATATATAT GATATATATATCATATATATCATATATATATCATATATATGATATATATC ATATATATCAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0087 a0001c0001t0012g0087	1	212	0.0047	210	c.316 others(229): Show c.316-48487_316-48486insTGATATATATCATATATATCATATAT ATGATATATATCATATATATGATATATATCATATATATCATATATATCAT ATATATCATATATATATCATATATATCATATATATGATATATATATCATA TATATCATATATATCATATATATGATATATATATCATATATATCATATAT ATATCATATATATGATATATATCATATATATCAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK8_chr9_209865_470255	400799	A A	ACCTCCAC others(203): Show ACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTC CACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCA CCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCT ATCACCTCCAATATCACTACCTCCTCCACCATCACCACCATCACCTCCAC CACCACCACCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0194 a0002c0007t0001g0194	1	256	0.0039	210	c.323 others(229): Show c.3234+1549_3234+1550insCCACCACCTCCACCACCAGCACTTCC ACCATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCAC CACCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATA TTATCACCTTTCCTATCACCTCCAATATCACTACCTCCTCCACCATCACC ACCATCACCTCCACCACCACCACCTCCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400938	C C	CCACCACC others(203): Show CCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCC ACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCACCGT CACCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCCCTGC CCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACTACC TCCTCCACCAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19010.hp2 HG00621.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0002c0006t0001 a0001c0002t0001 a0002c0006t0001	a0001c0002t0001g0049 a0002c0006t0001g0222 a0001c0002t0001g0049 a0002c0006t0001g0222	2	256	0.0078	210	c.323 others(229): Show c.3234+1687_3234+1688insCCACCTCCACCATCACCACCACCTCC ACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCACCAC CTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCA CCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACC TCCAATATCACTACCTCCTCCACCATCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK7_chr4_3458306_3499482	3490396	G G	GTCCTTCA others(203): Show GTCCTTCATTACCCTCCTGCTCATTCATTCCTTCTTTCACCCCCCCCACC GCCCCGCTCATTCATTCCTTCATTTCTCTCCTGCTCATTCATTCCTTTCT TCTCCCTCTGCTCATTCATTCCTTCTTTCACCCCCCCCACCGCCCCGCTC ATTCATTCCTTCATTTCTCTCCTGCTCATTCATTCCTTTCTTCTCCCTCC TGCTCATTCAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0340 a0009c0010t0001g0340	1	404	0.0025	210	c.772 others(225): Show c.772+606_772+607insATTACCCTCCTGCTCATTCATTCCTTCTTT CACCCCCCCCACCGCCCCGCTCATTCATTCCTTCATTTCTCTCCTGCTCA TTCATTCCTTTCTTCTCCCTCTGCTCATTCATTCCTTCTTTCACCCCCCC CACCGCCCCGCTCATTCATTCCTTCATTTCTCTCCTGCTCATTCATTCCT TTCTTCTCCCTCCTGCTCATTCATTCCTTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(203): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT AATATATATAATATATATATAATATATATATTATATATAATATATATATA TAATATATATATAATATATATATAATATATATAATATATATATAATATAT ATATTTAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00741.hp2 others(44): Show HG00140.hp1 HG00423.hp1 HG00741.hp2 HG01074.hp1 HG01123.hp2 HG01175.hp2 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02293.hp1 HG03491.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 NA18939.hp2 NA18944.hp2 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18969.hp2 NA18972.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19005.hp2 NA19011.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0002 a0007c0007t0002 a0002c0002t0002 a0007c0007t0002	a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0007 others(37): Show a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0007c0007t0002g0084	47	298	0.1577	210	c.554 others(227): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATAATATATATAATATATATATAATATATATATTATATA TAATATATATATATAATATATATATAATATATATATAATATATATAATAT ATATATAATATATATATTTAAAAGTATATATA	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(203): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT ATTATATATAATATATATATAATATATATATTATATATAATATATATATA TAATATATATATAATATATATATAATATATATAATATATATATAATATAT ATATTTAAAAG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0111	1	298	0.0034	210	c.554 others(227): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATATTATATATAATATATATATAATATATATATTATATA TAATATATATATATAATATATATATAATATATATATAATATATATAATAT ATATATAATATATATATTTAAAAGTATATATA	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(203): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT TATATATATAATATATATATAATATATATATTATATATAATATATATATA TAATATATATATTATATATATATAATATATATAATATATATATAATATAT ATATTTAAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03471.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0005 a0001c0001t0001g0051	3	298	0.0101	210	c.554 others(227): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATTATATATATAATATATATATAATATATATATTATATA TAATATATATATATAATATATATATTATATATATATAATATATATAATAT ATATATAATATATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619039	T T	TGCTCCCC others(203): Show TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02735.hp1 NA18984.hp2 HG02132.hp1 HG02735.hp1 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0056 a0001c0001t0001g0124 a0002c0002t0001g0103 a0001c0001t0001g0056 a0001c0001t0001g0124 a0002c0002t0001g0103	3	250	0.0120	210	c.-10 others(229): Show c.-107+5337_-107+5338insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619306	C C	CCCCCCCT others(203): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01993.hp2 HG02004.hp2 others(2): Show HG01261.hp1 HG01993.hp2 HG02004.hp2 HG02148.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0190 a0002c0002t0001g0191 others(2): Show a0002c0002t0001g0177 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193	5	250	0.0200	210	c.-10 others(229): Show c.-107+5593_-107+5594insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619397	C C	CCCCCCCC others(203): Show CCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0248 a0001c0001t0001g0249	2	250	0.0080	210	c.-10 others(229): Show c.-107+5684_-107+5685insCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619428	C C	CCCCCCCT others(203): Show CCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCATG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0196 a0002c0002t0003g0196	1	250	0.0040	210	c.-10 others(229): Show c.-107+5714_-107+5715insCTGCTCCCCTCCCTGCAGCTCCATGC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(203): Show ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATATAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0139 a0001c0001t0024g0139	1	316	0.0032	210	c.355 others(229): Show c.355-25620_355-25619insGTATATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATATAG TGTATATATATAGTATATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFNA2_chr19_1280873_1306431	1300496	G G	GCTCCCCT others(203): Show GCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCT CTGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTG CACCCCACTCGTGGGGGAACACAGCCTCTCCCCTCTGCTCTGCACCCCAC TCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGG GAACACAGCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0081 a0001c0004t0081	a0001c0004t0081g0127 a0001c0004t0081g0127	1	294	0.0034	210	c.63 others(219): Show c.633_*634insCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAA CACAGCCTCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCG CTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCTCTCCCCTC TGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTGC ACCCCACTCGTGGGGGAACACAGC	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	4/4	634	INFO_REALIGN_3_PRIME	chr19	TogoVar
EFNA2_chr19_1280873_1306431	1300496	G G	GCTCCCCT others(203): Show GCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCT CTGCTCTGCACCCCACTCGTGGGGGAACACAGCCTCTCCCCTCTGCTCTG CACCCCACTCGTGGGGGAACACAGCCTCTCCCCTCTGCTCTGCACCCCAC TCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGG GAACACAGCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG02723.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0047 a0001c0001t0037 a0001c0001t0047	a0001c0001t0037g0039 a0001c0001t0047g0138 a0001c0001t0037g0039 a0001c0001t0047g0138	2	294	0.0068	210	c.63 others(219): Show c.633_*634insCTCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAA CACAGCCTCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCG CTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCTCTCCCCTC TGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTGC ACCCCACTCGTGGGGGAACACAGC	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	4/4	634	INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(203): Show GGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGAGACGTGT GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGT GACGACGCCGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	170	0.0059	210	c.227 others(229): Show c.2276-1097_2276-1096insTGACGCCGGGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGACGACGCCGAGACGTGTGGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(203): Show GGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGACGTGT GGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGT GACGACGCCGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	170	0.0059	210	c.227 others(229): Show c.2276-1097_2276-1096insTGACGCCGGGACGTGTGGTGATGACG CCGGGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGACGACGCCGAGACGTGTGGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(203): Show GGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGACGTGT GGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGT GACGACGCCGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01346.hp1 HG02293.hp2 others(2): Show HG01256.hp2 HG01346.hp1 HG02293.hp2 HG03490.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0103 a0001c0001t0001g0162 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0103 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164	5	170	0.0294	210	c.227 others(229): Show c.2276-1097_2276-1096insTGACGCCGGGATGTGTGGTGATGACG CCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGACGACGCCGAGACGTGTGGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(203): Show GGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGACGTGT GGTGATGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGT GACGACGCCGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02735.hp2 NA18979.hp1 HG02165.hp2 HG02735.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0110	3	170	0.0177	210	c.227 others(229): Show c.2276-1097_2276-1096insTGACGCCGGGATGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGACGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGACGACGCCGAGACGTGTGGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGACGTGT others(203): Show GGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGACGTGT GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGACGA CGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGA CGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGT GACGACGCCGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03017.hp2 HG01943.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0161 a0001c0001t0001g0119 a0001c0001t0001g0161	2	170	0.0118	210	c.227 others(229): Show c.2276-1097_2276-1096insTGACGCCGGGATGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACG TGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGA CGACGCCGAGACGTGTGGTGACGACGCCGAGACGTGTGGTGACGACGCCG AGACGTGTGGTGACGACGCCGAGACGTGTGGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(203): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATAATATATAT AATATATTATACATAATATATAATATATATTACGTAATATATTACATATA TTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(81): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18939.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18982.hp2 NA18988.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0008	a0001c0001 a0003c0005 a0006c0008 others(2): Show a0001c0001 a0003c0005 a0006c0008 a0007c0010 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0003c0005t0001 a0006c0008t0001 a0007c0010t0001 a0008c0007t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(81): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0046 a0001c0001t0003g0240 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0006g0012 a0001c0001t0006g0018 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0164 a0001c0001t0006g0178 a0001c0001t0006g0193 a0001c0001t0008g0301 a0001c0001t0008g0303 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0010g0202 a0001c0001t0025g0302 a0003c0005t0001g0137 a0003c0005t0001g0156 a0006c0008t0001g0184 a0007c0010t0001g0122 a0008c0007t0001g0191	84	312	0.2692	210	c.-37 others(221): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACGTAATA TATATTATATATTATGTATAATATATTATATATATTATACATAATATATA TATTATATATTATATATTATATATTATGTATAATATATAATATATAATAT ATTATATATTACATATAATATATTATATGTAATATATAACATATATTACA TAATATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(203): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATAATATATAT TATATATTATACATAATATATAATATATATTACGTAATATATTACATATA TTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG01361.hp1 others(43): Show HG00323.hp2 HG00544.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02040.hp1 HG02132.hp2 HG02135.hp1 HG02451.hp2 HG02523.hp2 HG02698.hp1 HG02723.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18939.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18980.hp2 NA18987.hp1 NA19000.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0011 a0001c0001t0003g0026 a0001c0001t0003g0027 others(43): Show a0001c0001t0001g0011 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0274 a0001c0001t0003g0279 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0293 a0001c0001t0012g0297 a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0016g0035	46	312	0.1474	210	c.-37 others(221): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACGTAATA TATATTATATATTATGTATAATATATAATATATATTATACATAATATATA TATTATATATTATATATTATATATTATGTATAATATATAATATATAATAT ATTATATATTACATATAATATATTATATGTAATATATAACATATATTACA TAATATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(203): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATAATATATAT TATATATTATACATAATATATAATATATATTATGTAATATATTACATATA TTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0286 a0001c0001t0005g0286	1	312	0.0032	210	c.-37 others(221): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACATAATA TATATTATATATTATGTATAATATATAATATATATTATACATAATATATA TATTATATATTATATATTATATATTATGTATAATATATAATATATAATAT ATTATATATTACATATAATATATTATATGTAATATATAACATATATTACA TAATATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(203): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATTATATATAT AATATATTATACATAATATATAATATATATTATGTAATATATTACATATA TTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	312	0.0032	210	c.-37 others(221): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACATAATA TATATTATATATTATGTATAATATATTATATATATAATACATAATATATA TATTATATATTATATATTATATATTATGTATAATATATAATATATAATAT ATTATATATTACATATAATATATTATATGTAATATATAACATATATTACA TAATATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180064	T T	TATATTAC others(203): Show TATATTACATATATTATGTAATATATGTTATATATTACATATAATATATT ATATGTAATATATAATATTATATATTATATATTATACATAATATATAATA TATAATATATAATATATATATTATGTATAATATATATATAATATATTATA CATAATATATAATATATATTATGTAATATATTACATATATTATATATAAT ATATATACGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	312	0.0032	210	c.-37 others(221): Show c.-3799_-3798insTACGTATATATATTATATATAATATATGTAATAT ATTACATAATATATATTATATATTATGTATAATATATTATATATATATTA TACATAATATATATATTATATATTATATATTATATATTATGTATAATATA TAATATATAATATTATATATTACATATAATATATTATATGTAATATATAA CATATATTACATAATATATGTAATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3168		chr1	TogoVar
ELL_chr19_18437663_18527070	18442182	C C	CCTAACAC others(203): Show CCTAACACATACCACACCCACACCACACACCCACACACACCACACCCACC CCAACACACACCACACAACCCACACTGCACACACCCAACACACCACCCCT CACACCACACACCACACACACCCACCACCAACACACACCACACCCACACC ACACATAAACCACACCCACACCCAACACACATACCACATCCACACATCCC AACACACCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	244	0.0041	210	c.25 others(221): Show c.2569_*2570insTGTGGTGTGTTGGGATGTGTGGATGTGGTATGTG TGTTGGGTGTGGGTGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGG TGGTGGGTGTGTGTGGTGTGTGGTGTGAGGGGTGGTGTGTTGGGTGTGTG CAGTGTGGGTTGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTG TGTGGTGTGGGTGTGGTATGTGTTAG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		480		chr19	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(203): Show GATATAACATATGCTATATATCATATATATGATATATAACATATGTTATA TATGATATATATGATATATAACATATGTTATATATGATATATATGATATA TAACATATGTTATATATGATATATAACATATATATGATATATGATATATA ACATATGTTATATATATGATATATATGTTATATGTCATATACAACATATG CTATATACGAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	338	0.0030	210	c.221 others(229): Show c.221+21529_221+21530insATCGTATATAGCATATGTTGTATATG ACATATAACATATATATCATATATATAACATATGTTATATATCATATATC ATATATATGTTATATATCATATATAACATATGTTATATATCATATATATC ATATATAACATATGTTATATATCATATATATCATATATAACATATGTTAT ATATCATATATATGATATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(203): Show GATATAACATATGCTATATATCATATATATGATATATAACATATGTTATA TATGATATATATGATATATAACATATGTTATATATGATATATATGATATA TAGCATATGTTATATATGATATATAACATATATATGATATATGATATATA ACATATGTTATATATATGATATATATGTTATATGTCATATACAACATATG CTATATACGAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp2 others(47): Show HG00558.hp2 HG00597.hp1 HG00735.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01981.hp1 HG02040.hp1 HG02129.hp2 HG02132.hp2 HG02300.hp2 HG02523.hp1 HG03017.hp1 HG03831.hp1 HG03942.hp2 NA18612.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp2 NA18984.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0019 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0062	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 others(47): Show a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0182 a0001c0001t0001g0213 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0002g0032 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0142 a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0314 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0292 a0001c0001t0004g0122 a0001c0001t0005g0197 a0001c0001t0005g0312 a0001c0001t0006g0194 a0001c0001t0016g0112 a0001c0001t0016g0114 a0001c0001t0016g0177 a0001c0001t0019g0124 a0001c0001t0019g0229 a0001c0001t0019g0328 a0001c0001t0053g0237 a0001c0001t0054g0284 a0001c0001t0055g0063 a0001c0001t0056g0297 a0001c0001t0062g0116	50	338	0.1479	210	c.221 others(229): Show c.221+21529_221+21530insATCGTATATAGCATATGTTGTATATG ACATATAACATATATATCATATATATAACATATGTTATATATCATATATC ATATATATGTTATATATCATATATAACATATGCTATATATCATATATATC ATATATAACATATGTTATATATCATATATATCATATATAACATATGTTAT ATATCATATATATGATATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(203): Show GATATAACATATGCTATATATCATATATATGATATATAACATATGTTATA TATGATATATATGATATATAACATATGTTATATATGATATATATGATATA TAGCGTATGTTATATATGATATATAACATATATATGATATATGATATATA ACATATGTTATATATATGATATATATGTTATATGTCATATACAACATATG CTATATACGAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0191 a0001c0001t0052g0191	1	338	0.0030	210	c.221 others(229): Show c.221+21529_221+21530insATCGTATATAGCATATGTTGTATATG ACATATAACATATATATCATATATATAACATATGTTATATATCATATATC ATATATATGTTATATATCATATATAACATACGCTATATATCATATATATC ATATATAACATATGTTATATATCATATATATCATATATAACATATGTTAT ATATCATATATATGATATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
EML1_chr14_99788413_99947060	99927949	T T	TGGTGGTG others(203): Show TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0149 a0001c0004t0003g0149	1	288	0.0035	210	c.190 others(229): Show c.1909+7077_1909+7078insTGGAGGTGGTGGTGGTGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTREP1_chr9_69320215_69397456	69367816	T T	TATATATA others(203): Show TATATATAAATATATATATACACATATATATAAATATATATACACACATA TATATAAATATATATACACACATATATATAAATATATATATACACATATA TATAAATATATATATACACATATATATAAAAATATATATATACATATATA AATATATATATACACATATATATAAATATATATATACACATATATAAATA TATATACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02155.hp2 HG02273.hp1 others(2): Show HG00423.hp1 HG02155.hp2 HG02273.hp1 NA18954.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0251 a0001c0001t0003g0253 others(2): Show a0001c0001t0003g0235 a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0257 a0001c0001t0003g0283	5	342	0.0146	210	c.472 others(227): Show c.472-3652_472-3651insAATATATATACACACATATATATAAATA TATATACACACATATATATAAATATATATATACACATATATATAAATATA TATATACACATATATATAAAAATATATATATACATATATAAATATATATA TACACATATATATAAATATATATATACACATATATAAATATATATACACA CATATATAAATATATATATACACATATATATA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29529214	A A	AGGGCGTG others(203): Show AGGGCGTGGAGGGGTGTGTGAGGGTGTGGAGGGGTGGGGGCGTGGAGGGG TGTGGGGGGCGTGGAGGGATGTGGGGGGGCGTGGAGGGGTGTGGGAGGCG TGGAGGGGAGTGGGGGGGAGTGGAGGGGCATGTGGGGGCATGGGGGACGT GGGAGGCATGGAGGGGTGTGGGGGGGCGTGGAGGGGTGTGGGGGGGCGTG GAGGGGTGTGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	125	0.0080	210	c.219 others(229): Show c.219+41290_219+41291insCCACACCCCTCCACGCCCCCCCACAC CCCTCCACGCCCCCCCACACCCCTCCATGCCTCCCACGTCCCCCATGCCC CCACATGCCCCTCCACTCCCCCCCACTCCCCTCCACGCCTCCCACACCCC TCCACGCCCCCCCACATCCCTCCACGCCCCCCACACCCCTCCACGCCCCC ACCCCTCCACACCCTCACACACCCCTCCACGCCC	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TATCTGTG others(203): Show TATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG TCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCTATCTCTA TCTGTGCCTATTGATATATCTGTATATATCTATCTCTATCTCTATCTCTA TCTCTATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATA TATCTATCTAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0016 a0001c0001t0094g0016	1	162	0.0062	210	c.156 others(229): Show c.1569+6613_1569+6614insGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTCTATCTGTGTCTATTGATATATCTGTATATATCTATCTAA ATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCT ATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGC CTATTGATATATCTGTATATATCTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914629	G G	GTCTCTCC others(203): Show GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCAT CTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCA CCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCT TCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTC CCCTTCCACCA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	330	0.0030	210	c.-13 others(227): Show c.-13-1698_-13-1697insTGGTGGAAGGGGAGGGAGAGACAGAGAT GGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAGACAG AGATGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAG ACAGAGATGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGG AGAGACAGAGATGGTGGAAGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH1_chr8_659200_736224	696434	A A	ACTCGCTC others(203): Show ACTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCG CTCGCTCCTCTCACCCTCTCTCCCTCTCCTTCCTCCCCATCAGCCTGCGC TCGCTCCTCACCCTCCACTCTTCTCCTTCTCCACTCCTCTCCTTCCTCCC CATCAGCCTGCGCTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCC ATCAGCCTGCG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	378	0.0027	210	c.170 others(227): Show c.170-3823_170-3822insCGCAGGCTGATGGGGAGGAAGGAGAGGA GTGGAGGGTGAGAGGAGCGAGCGCAGGCTGATGGGGAGGAAGGAGAGGAG TGGAGAAGGAGAAGAGTGGAGGGTGAGGAGCGAGCGCAGGCTGATGGGGA GGAAGGAGAGGGAGAGAGGGTGAGAGGAGCGAGCGCAGGCTGATGGGGAG GAAGGAGAGGAGTGGAGGGTGAGAGGAGCGAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696643	T T	TCCTCTCC others(203): Show TCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCACCCTCCACTCT TCTCCTTCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCT CTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTC TCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCT CACCCTCTCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02809.hp1 HG03139.hp2 HG01934.hp2 HG02809.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0079 a0001c0001t0001g0156 a0001c0001t0002g0292 a0001c0001t0001g0079 a0001c0001t0001g0156 a0001c0001t0002g0292	3	378	0.0079	210	c.170 others(227): Show c.170-4241_170-4032dupGAGAGAGGGTGAGAGGAGCGAGCGCAGG CTGATGGGGAGGAAGGAGAGGAGTGGAGGGTGAGAGGAGCGAGCGCAGGC TGATGGGGAGGAAGGAGAGGAGTGGAGGGTGAGAGGAGCGAGCGCAGGCT GATGGGGAGGAAGGAGAGGAGTGGAGAAGGAGAAGAGTGGAGGGTGAGGA GCGAGCGCAGGCTGATGGGGAGGAAGGAGAGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ESPNL_chr2_238095340_238138287	238098619	G G	GGGAACGC others(203): Show GGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGC CCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATAG GACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCC ACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGA ACGCCCACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0066 a0002c0066	a0002c0066t0007 a0002c0066t0007	a0002c0066t0007g0163 a0002c0066t0007g0163	1	408	0.0025	210	c.-18 others(221): Show c.-1801_-1800insGGAACGCCCACATAGGACCGCCCACATGGGACCG CCCACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATG GGAACGCCCACATAGGACCGCCCACATGGGAACGCCCACATAGGACCGCC CACATGGGACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATGGG ACCGCCCACATGGGAACGCCCACATA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1720		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098626	C C	CCCACATA others(203): Show CCCACATAGAACCGTCCACATAGGACCGCCCACATAGAACCGCCCACATG GGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGAACGCC CACATAGGACCGCCCACATAGGACCGCCCACATAGAACCGCCCACATGGG AACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCA CATAGAACCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0005 a0004c0017t0005	a0004c0017t0005g0012 a0004c0017t0005g0012	2	408	0.0049	210	c.-17 others(221): Show c.-1794_-1793insCCACATAGAACCGTCCACATAGGACCGCCCACAT AGAACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGC CCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATAG AACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCC ACATGGGACCGCCCACATAGAACCGT	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1713		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098626	C C	CCCACATA others(203): Show CCCACATAGGACCGCCCACATGGGACCGCCCACATAGGACCGCCCACATA GAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGCC CACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGA ACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCA CATGGGACCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02622.hp2 others(6): Show HG02055.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02897.hp1 HG03098.hp2 HG03225.hp2 HG03516.hp2	a0002 a0006 a0008 others(1): Show a0002 a0006 a0008 a0021	a0002c0004 a0006c0006 a0008c0023 others(1): Show a0002c0004 a0006c0006 a0008c0023 a0021c0055	a0002c0004t0007 a0006c0006t0003 a0008c0023t0010 others(1): Show a0002c0004t0007 a0006c0006t0003 a0008c0023t0010 a0021c0055t0003	a0002c0004t0007g0125 a0006c0006t0003g0025 a0006c0006t0003g0026 others(4): Show a0002c0004t0007g0125 a0006c0006t0003g0025 a0006c0006t0003g0026 a0006c0006t0003g0126 a0008c0023t0010g0123 a0008c0023t0010g0162 a0021c0055t0003g0124	9	408	0.0221	210	c.-17 others(221): Show c.-1794_-1793insCCACATAGGACCGCCCACATGGGACCGCCCACAT AGGACCGCCCACATAGAACCGCCCACATAGGACCGCCCACATGGGACCGC CCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGG GACCGCCCACATAGAACCGCCCACATGGGACCGCCCACATGGGAACGCCC ACATGGGAACGCCCACATGGGACCGT	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1713		chr2	TogoVar
ESYT2_chr7_158725997_158834509	158804054	T T	TCGAGAAG others(203): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGG CGAGTGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGG TGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAA ACCCAAACCGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0185 a0001c0001t0025g0185	1	370	0.0027	210	c.331 others(227): Show c.331-4983_331-4982insGCGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCGGCGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCGGCGGTTTG GGTTTGTCGCGCGCCTCACCCTTCTCGGCGGTTTGGGTTTGTCGCGCGCC TCACCCTTCTCGACGGTTTGGGTTTGTCACTCGCCTCACCCTTCTCGACG GTTTGGGTTTGTCGCGCGCCTCACCCTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804054	T T	TCGAGAAG others(203): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGG CGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGAGCGACAAACCCA AACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGG TGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAA ACCCAAACCGC	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18949.hp2 NA18960.hp1 others(10): Show HG01358.hp1 NA18949.hp2 NA18960.hp1 NA18966.hp1 NA18983.hp1 NA18985.hp1 NA18992.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0227 a0002c0002t0002g0236 a0002c0002t0002g0238 others(10): Show a0002c0002t0002g0227 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0253 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0284 a0002c0002t0002g0294 a0002c0002t0002g0296 a0002c0002t0002g0309	13	370	0.0351	210	c.331 others(227): Show c.331-4983_331-4982insGCGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCGGCGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCGGCGGTTTG GGTTTGTCGCGCGCCTCACCCTTCTCGACGGTTTGGGTTTGTCGCTCGCC TCACCCTTCTCGACGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCGACG GTTTGGGTTTGTCGCGCGCCTCACCCTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
EXD3_chr9_137301896_137428162	137329456	T T	TACACAGG others(203): Show TACACAGGGTCACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGAC TACACGGGGTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	82	0.0122	210	c.199 others(229): Show c.1999-5314_1999-5313insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329576	G G	GCTACACG others(203): Show GCTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGG GTCACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGACTACACGGGGCTACACGGGACTACACAGG GTCACACGGGACTACACGGGACTACACGGGACTACACGGGACTACACGGG GTCACACGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0001 a0029c0036t0001	a0029c0036t0001g0003 a0029c0036t0001g0003	1	82	0.0122	210	c.199 others(229): Show c.1999-5434_1999-5433insTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM171A1_chr10_15206643_15376289	15229788	A A	ACTATCAC others(203): Show ACTATCACCAACATCATCATCATCACCATCACCATCATCACCATCACCAT CATCACCATTGTCACCCCCCTCACCATCATCACCATCATCACCATTGTCA CCCCCATCACCATCACCAACGTCATCATCATCACCATCATCACCATCACC ATCATCACCATTGTCACCCCCATCACCATCATCACCATCACCATCATCAC CATTGTCACCC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA20752.hp2 NA19004.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0213 a0002c0002t0002g0021 a0001c0001t0001g0213 a0002c0002t0002g0021	2	303	0.0066	210	c.755 others(227): Show c.755-8729_755-8728insGGGTGACAATGGTGATGATGGTGATGGT GATGATGGTGATGGGGGTGACAATGGTGATGATGGTGATGGTGATGATGG TGATGATGATGACGTTGGTGATGGTGATGGGGGTGACAATGGTGATGATG GTGATGATGGTGAGGGGGGTGACAATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGATGATGATGTTGGTGATAG	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar

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Search Results (Total: 10000 hits)