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
DOCK8_chr9_209865_470255	403882	CTCTCTCT others(91): Show CTCTCTCTCTCTATATATATATATATATATATATACATATATATATATGT GTATATATATATGTGTATATATATATATGTATATATATATATATGTGTA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0117 a0008c0117	a0008c0117t0001 a0008c0117t0001	a0008c0117t0001g0016 a0008c0117t0001g0016	1	256	0.0039	-98	c.323 others(116): Show c.3235-1034_3235-937delCTCTCTCTCTATATATATATATATATA TATATACATATATATATATGTGTATATATATATGTGTATATATATATATG TATATATATATATATGTGTAT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403886	CTCTCTCT others(91): Show CTCTCTCTATATATATATATATATATATATACATATATATATATGTGTAT ATATATATGTGTATATATATATATGTATATATATATATATGTGTATATA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19043.hp1 HG02080.hp1 NA19043.hp1	a0003 a0057 a0003 a0057	a0003c0001 a0057c0130 a0003c0001 a0057c0130	a0003c0001t0016 a0057c0130t0001 a0003c0001t0016 a0057c0130t0001	a0003c0001t0016g0157 a0057c0130t0001g0169 a0003c0001t0016g0157 a0057c0130t0001g0169	2	256	0.0078	-98	c.323 others(116): Show c.3235-1030_3235-933delCTCTCTATATATATATATATATATATA TACATATATATATATGTGTATATATATATGTGTATATATATATATGTATA TATATATATATGTGTATATAT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403888	CTCTCTAT others(91): Show CTCTCTATATATATATATATATATATATACATATATATATATGTGTATAT ATATATGTGTATATATATATATGTATATATATATATATGTGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02055.hp1 HG02572.hp2	a0001 a0011 a0001 a0011	a0001c0066 a0011c0161 a0001c0066 a0011c0161	a0001c0066t0014 a0011c0161t0002 a0001c0066t0014 a0011c0161t0002	a0001c0066t0014g0084 a0011c0161t0002g0234 a0001c0066t0014g0084 a0011c0161t0002g0234	2	256	0.0078	-98	c.323 others(116): Show c.3235-1028_3235-931delCTCTATATATATATATATATATATATA CATATATATATATGTGTATATATATATGTGTATATATATATATGTATATA TATATATATGTGTATATATAT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403892	CTATATAT others(91): Show CTATATATATATATATATATATATACATATATATATATGTGTATATATAT ATGTGTATATATATATATGTATATATATATATATGTGTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01981.hp1 others(4): Show HG01109.hp2 HG01243.hp1 HG01981.hp1 HG02109.hp1 HG02148.hp1 HG03471.hp2 HG06807.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0028 a0033 a0038	a0001c0002 a0001c0049 a0002c0008 others(4): Show a0001c0002 a0001c0049 a0002c0008 a0009c0060 a0028c0116 a0033c0088 a0038c0068	a0001c0002t0001 a0001c0049t0013 a0002c0008t0001 others(4): Show a0001c0002t0001 a0001c0049t0013 a0002c0008t0001 a0009c0060t0003 a0028c0116t0002 a0033c0088t0003 a0038c0068t0003	a0001c0002t0001g0090 a0001c0049t0013g0219 a0002c0008t0001g0114 others(4): Show a0001c0002t0001g0090 a0001c0049t0013g0219 a0002c0008t0001g0114 a0009c0060t0003g0241 a0028c0116t0002g0233 a0033c0088t0003g0003 a0038c0068t0003g0077	7	256	0.0273	-98	c.323 others(116): Show c.3235-1024_3235-927delATATATATATATATATATATATACATA TATATATATGTGTATATATATATGTGTATATATATATATGTATATATATA TATATGTGTATATATATATAT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403896	ATATATAT others(91): Show ATATATATATATATATATATACATATATATATATGTGTATATATATATGT GTATATATATATATGTATATATATATATATGTGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp1 HG01074.hp1 others(13): Show HG00609.hp1 HG01069.hp1 HG01074.hp1 HG01943.hp1 HG01993.hp2 HG02148.hp2 HG02257.hp2 HG02896.hp1 HG03471.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18943.hp2 NA18945.hp1 NA19007.hp2 NA19060.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0029 a0037 a0052	a0001c0003 a0002c0005 a0002c0008 others(10): Show a0001c0003 a0002c0005 a0002c0008 a0002c0021 a0002c0097 a0003c0001 a0003c0134 a0003c0135 a0005c0145 a0007c0078 a0029c0082 a0037c0029 a0052c0136	a0001c0003t0001 a0002c0005t0001 a0002c0008t0001 others(10): Show a0001c0003t0001 a0002c0005t0001 a0002c0008t0001 a0002c0021t0005 a0002c0097t0002 a0003c0001t0001 a0003c0134t0001 a0003c0135t0001 a0005c0145t0001 a0007c0078t0001 a0029c0082t0001 a0037c0029t0001 a0052c0136t0001	a0001c0003t0001g0044 a0002c0005t0001g0191 a0002c0005t0001g0196 others(13): Show a0001c0003t0001g0044 a0002c0005t0001g0191 a0002c0005t0001g0196 a0002c0008t0001g0112 a0002c0008t0001g0113 a0002c0021t0005g0250 a0002c0097t0002g0121 a0003c0001t0001g0135 a0003c0001t0001g0158 a0003c0134t0001g0217 a0003c0135t0001g0173 a0005c0145t0001g0172 a0007c0078t0001g0035 a0029c0082t0001g0228 a0037c0029t0001g0047 a0052c0136t0001g0155	16	256	0.0625	-98	c.323 others(116): Show c.3235-1003_3235-906delTACATATATATATATGTGTATATATAT ATGTGTATATATATATATGTATATATATATATATGTGTATATATATATAT GTGTATATATATATATATATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPYD_chr1_97072743_97926034	97175174	GCTGCTCA others(91): Show GCTGCTCAATATCTTTGCCAACATTTATGTTTTCAGTATTTTGAACATTA GCTATTCTAGGGGGTGTGAAGTAATATCTCATTGTAGTGTTCTACTGTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03098.hp2 NA18522.hp2 HG00735.hp2 HG03098.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0046 a0001c0001t0002g0030 a0002c0002t0001g0011 a0001c0001t0001g0046 a0001c0001t0002g0030 a0002c0002t0001g0011	3	52	0.0577	-98	c.262 others(119): Show c.2622+17797_2622+17894delTACAGTAGAACACTACAATGAGAT ATTACTTCACACCCCCTAGAATAGCTAATGTTCAAAATACTGAAAACATA AATGTTGGCAAAGATATTGAGCAG	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DTWD2_chr5_118831074_118993547	118986731	GTTAAAGC others(91): Show GTTAAAGCAAATAAAATGCATAGCAAGAGGGAGGAGAGCTTTTCACAGGT AGCAAATTTCACAAGAAATAAGCAAAGTGTAGAATTATAGTCTACCTAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0204 a0001c0001t0008g0204	1	242	0.0041	-98	c.218 others(115): Show c.218+1465_218+1562delTTAGGTAGACTATAATTCTACACTTTGC TTATTTCTTGTGAAATTTGCTACCTGTGAAAAGCTCTCCTCCCTCTTGCT ATGCATTTTATTTGCTTTAA	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5			chr5	TogoVar
DYRK3_chr1_206630536_206660158	206657059	ACTGCAGC others(91): Show ACTGCAGCTAGTCTGTGCAGATGCTAAGGACTGACCTTGACCTTCCAGTA GAGTGAGCCTGGACATGATTTGACCTCGTTTTGCAGAGGCTGCCCAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	-98	c.80 others(109): Show c.8095_*8192delCTGCAGCTAGTCTGTGCAGATGCTAAGGACTGAC CTTGACCTTCCAGTAGAGTGAGCCTGGACATGATTTGACCTCGTTTTGCA GAGGCTGCCCAGCC	DYRK3	ENSG00000143479.18	transcript	ENST00000367109.8	protein_coding		1902		chr1	TogoVar
EBF3_chr10_129830233_129969274	129919957	ACCCCGCT others(91): Show ACCCCGCTGTGCAGTCTAGGGCGAGTATCTCCAGGAGGGCCATAAACCCG CCCCACTGTGCGGTCTAGGGCCAGTATCTCCAGGAGGGCCACAAACCCG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0223 a0001c0001t0017g0223	1	338	0.0030	-98	c.554 others(117): Show c.554+37203_554+37300delCGGGTTTGTGGCCCTCCTGGAGATAC TGGCCCTAGACCGCACAGTGGGGCGGGTTTATGGCCCTCCTGGAGATACT CGCCCTAGACTGCACAGCGGGG	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129920067	GGTCTAGG others(91): Show GGTCTAGGGCGAGTATCTCCAGGAGGGCCACAAACCCGCCCCACTGTGCG GTCTAGGGCCAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01258.hp1 HG01496.hp2 others(3): Show HG00741.hp1 HG01258.hp1 HG01496.hp2 HG01928.hp2 HG02922.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0083 a0001c0001t0001g0133 a0001c0001t0001g0280 others(3): Show a0001c0001t0001g0083 a0001c0001t0001g0133 a0001c0001t0001g0280 a0001c0001t0002g0042 a0001c0001t0002g0147 a0001c0002t0004g0311	6	338	0.0178	-98	c.554 others(117): Show c.554+37093_554+37190delTGCACAGCGGGGCGGGTTTGTGGCCC TCCTGGAGATACTGGCCCTAGACCGCACAGTGGGGCGGGTTTGTGGCCCT CCTGGAGATACTCGCCCTAGAC	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EDN3_chr20_59295611_59330992	59326384	GGAGAGGG others(91): Show GGAGAGGGCACTGCTGGGGGGCTCAGGATTCTACGGAGAGCACTGCTGGA GGGCTGAGGATTCTAGGGAGAGCACTGCTGGGGGGCTCAGGATTCTAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01361.hp2 others(35): Show HG00642.hp1 HG01081.hp1 HG01361.hp2 HG01978.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02155.hp1 HG02293.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18747.hp2 NA18942.hp2 NA18956.hp2 NA18967.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18986.hp1 NA18997.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19057.hp1 NA19072.hp1 NA19074.hp2 NA19089.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0097 a0001c0001t0002g0003 a0001c0001t0002g0014 others(15): Show a0001c0001t0001g0097 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0025 a0001c0001t0002g0043 a0001c0001t0002g0061 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0098 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0138 a0001c0001t0002g0190 a0001c0001t0010g0180	38	398	0.0955	-98	c.19 others(109): Show c.1926_*2023delGAGAGGGCACTGCTGGGGGGCTCAGGATTCTACG GAGAGCACTGCTGGAGGGCTGAGGATTCTAGGGAGAGCACTGCTGGGGGG CTCAGGATTCTAGA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding		393		chr20	TogoVar
ENOSF1_chr18_665318_717630	667362	GGAGATGG others(91): Show GGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGG TGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	418	0.0024	-98	c.68 others(109): Show c.6845_*6942delATCATCACCATCACCATCACCATCACCATCTCCA TCACCATCACCATCACCATCACCATCACCATCTCCATCACCATCACCATC ACCATCACCATCTC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2955		chr18	TogoVar
ERICH1_chr8_659200_736224	695857	GCTCGCTC others(91): Show GCTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCA CTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0349 a0001c0001t0002g0349	1	378	0.0027	-98	c.170 others(115): Show c.170-3343_170-3246delTGCAGGCTGATGGGGAGGAAGGAGAGGA GTGGAGGGTGAGAGGAGCGAGTGCAGGCTGATGGGGAGGAAGGAGAGGAG TGGAGGGTGAGAGGAGCGAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERMARD_chr6_169746622_169786600	169782235	ACCCTTTC others(91): Show ACCCTTTCCGAGTGGTCGGTGTGAGTCTCAGTCTGCAGTCTTCTGATGTA CCCTTTCCGAGTGGTCGGTGTGAGTCTCACTCTGCAGTCTTCTGATTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(49): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp2 HG02970.hp1 HG03098.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp2 NA18965.hp2 NA18973.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19058.hp2 NA19063.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19088.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0046 others(17): Show a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0172	52	379	0.1372	-98	c.72 others(107): Show c.723_*820delCCCTTTCCGAGTGGTCGGTGTGAGTCTCAGTCTGCA GTCTTCTGATGTACCCTTTCCGAGTGGTCGGTGTGAGTCTCACTCTGCAG TCTTCTGATTTG	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding		636		chr6	TogoVar
ESPNL_chr2_238095340_238138287	238118348	ATGGATGG others(91): Show ATGGATGGAGGAGGAATGGATGGAGGAGGTGGATGGAGAAGGGTGGATGG AAGAGGGTGGACGGAGGAGGGTGGATGGAGGAGGAATGGATGGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0036 a0036	a0036c0126 a0036c0126	a0036c0126t0002 a0036c0126t0002	a0036c0126t0002g0138 a0036c0126t0002g0138	1	408	0.0025	-98	c.987 others(115): Show c.987+1327_987+1424delGAATGGATGGAGGAGGTGGATGGAGAAG GGTGGATGGAAGAGGGTGGACGGAGGAGGGTGGATGGAGGAGGAATGGAT GGAAGAGGTGGATGGAGGAG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ETNPPL_chr4_108737053_108768053	108747158	TATATATT others(91): Show TATATATTATATATATATATATAATATATATATATATTATATATATATAT AATATATATATATATATTATATATATATATATAATATATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA20129.hp2 HG04115.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0040 a0002c0002t0001g0301 a0001c0001t0001g0040 a0002c0002t0001g0301	2	378	0.0053	-98	c.108 others(115): Show c.1083-405_1083-308delTAATATATATATATATTATATATATATA TATAATATATATATATATATTATATATATATATAATATATATATATATTA TATATATATATATAATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
EYA2_chr20_46889843_47193844	47156073	CACACATA others(91): Show CACACATATATATACATACACACACACACACACACACACACACACACACA CACACATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02109.hp1 others(5): Show HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02809.hp1 HG03041.hp1 HG03139.hp2 HG03486.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0005 a0001c0001 a0001c0013 a0002c0005	a0001c0001t0001 a0001c0013t0001 a0002c0005t0001 a0001c0001t0001 a0001c0013t0001 a0002c0005t0001	a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0047 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0141 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0013t0001g0025 a0002c0005t0001g0033	8	238	0.0336	-98	c.978 others(117): Show c.978+12927_979-12967delCACATATATATACATACACACACACA CACACACACACACACACACACACACACATATATATATATATATATATATA TATATATATATATATATATATA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYS_chr6_63714980_65712226	65160847	ATTTTCCC others(91): Show ATTTTCCCCCAAAACTACCTATCCTGTTCCTGGTTCCCAATTTACTATTT ACTGACATCTGAGGCCTCAATTTTTGGTCTCATTCATCTATTTATATTC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG02965.hp2 HG02622.hp2 HG02886.hp2 HG02965.hp2	a0001 a0003 a0001 a0003	a0001c0009 a0001c0012 a0003c0002 a0001c0009 a0001c0012 a0003c0002	a0001c0009t0001 a0001c0012t0002 a0003c0002t0002 a0001c0009t0001 a0001c0012t0002 a0003c0002t0002	a0001c0009t0001g0012 a0001c0012t0002g0021 a0003c0002t0002g0019 a0001c0009t0001g0012 a0001c0012t0002g0021 a0003c0002t0002g0019	3	24	0.1250	-98	c.202 others(121): Show c.2024-103218_2024-103121delGAATATAAATAGATGAATGAGA CCAAAAATTGAGGCCTCAGATGTCAGTAAATAGTAAATTGGGAACCAGGA ACAGGATAGGTAGTTTTGGGGGAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EZR_chr6_158760748_158824368	158803538	TATATATG others(91): Show TATATATGTATATATATATATATATATATATATATATATATATACATATA TATATATATATATATATACATATATATATATATATATACATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01175.hp1 HG01346.hp2 others(13): Show HG00544.hp1 HG01175.hp1 HG01346.hp2 HG01517.hp2 HG01884.hp1 HG02083.hp2 HG02735.hp1 HG02738.hp2 HG03239.hp1 HG03669.hp2 HG04199.hp1 NA18949.hp2 NA18956.hp1 NA19056.hp1 NA20805.hp1 NA20805.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0008 a0006c0006 a0001c0001 a0005c0008 a0006c0006	a0001c0001t0002 a0001c0001t0006 a0005c0008t0002 others(1): Show a0001c0001t0002 a0001c0001t0006 a0005c0008t0002 a0006c0006t0006	a0001c0001t0002g0007 a0001c0001t0002g0180 a0001c0001t0002g0187 others(12): Show a0001c0001t0002g0007 a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0254 a0001c0001t0002g0265 a0001c0001t0006g0235 a0005c0008t0002g0234 a0006c0006t0006g0262	16	312	0.0513	-98	c.13- others(115): Show c.13-14265_13-14168delGTATGTATATGTATATATATATATATAT ATGTATATATATATATATATATATATGTATATATATATATATATATATAT ATATATATATATACATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
FAM174B_chr15_92612448_92660775	92631191	TTATATAT others(91): Show TTATATATATTACATATATTATATATTATATTATATATAATATATTATAT ATTATATTATATATAATATATTATATATTATATTATATATAATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0057 a0001c0001t0024g0057	1	394	0.0025	-98	c.345 others(113): Show c.345-944_345-847delTAATATATTATATATAATATAATATATAAT ATATTATATATAATATAATATATAATATATTATATATAATATAATATATA ATATATGTAATATATATA	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM210B_chr20_56353974_56373663	56365905	AAGTGCTA others(91): Show AAGTGCTAGGATTACAGGCGTGAGCCACTGCACCTGGCCACTAAGACTTT TATTCATTCAGCTACTTCATTACATTTTTTAAAATACTGTAAATCTTAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00741.hp2 others(40): Show HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01517.hp2 HG02055.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 NA19043.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 others(1): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0003c0007t0001	a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0015 others(8): Show a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0015 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0004g0009 a0002c0002t0008g0022 a0002c0002t0008g0039 a0003c0007t0001g0055	43	392	0.1097	-98	c.363 others(112): Show c.363-163_363-66delTGCTAGGATTACAGGCGTGAGCCACTGCACC TGGCCACTAAGACTTTTATTCATTCAGCTACTTCATTACATTTTTTAAAA TACTGTAAATCTTATAG	FAM210B	ENSG00000124098.10	transcript	ENST00000371384.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
FAM227B_chr15_49321970_49625818	49549916	CCCCCCCC others(91): Show CCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01074.hp2 others(37): Show HG00280.hp1 HG00323.hp1 HG01074.hp2 HG01099.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01517.hp1 HG02040.hp1 HG02056.hp2 HG02132.hp1 HG02523.hp2 HG02698.hp2 HG02970.hp2 HG03017.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 NA18944.hp2 NA18955.hp2 NA18964.hp2 NA18970.hp1 NA18974.hp2 NA18975.hp1 NA18986.hp2 NA18998.hp1 NA19002.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19080.hp1 NA19082.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 others(37): Show a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0259 a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0005g0067 a0001c0001t0015g0052	40	294	0.1361	-98	c.748 others(115): Show c.748-8208_748-8111delTCAGCCCCCTGCCCGGCCAGCCGCCCCG TCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGGG	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	9/15			chr15	TogoVar
FAM3A_chrX_154501171_154521232	154519722	AAGGTGGG others(91): Show AAGGTGGGCATAGTGAATCACGCCTGTAATCCTAGGACTTTGGGAGGCTG AGGTGGGCATAGTGAATCACGCCTGTAATCCTAGGACTTTGGGAGGCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(286): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0007 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0002c0007t0001 a0003c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(152): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0101 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0003g0055 a0001c0001t0003g0076 a0001c0001t0003g0084 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0004g0010 a0001c0001t0004g0062 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0005g0038 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0109 a0001c0001t0006g0030 a0001c0001t0006g0145 a0001c0001t0006g0162 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0129 a0001c0001t0008g0132 a0001c0001t0009g0051 a0001c0001t0011g0111 a0001c0001t0012g0097 a0001c0001t0013g0073 a0001c0001t0016g0116 a0001c0001t0017g0174 a0001c0001t0018g0133 a0001c0001t0019g0188 a0001c0001t0020g0189 a0001c0002t0001g0182 a0001c0004t0001g0150 a0001c0005t0001g0130 a0001c0006t0001g0146 a0002c0007t0001g0135 a0003c0003t0002g0061	289	339	0.8525	-98	c.-40 others(109): Show c.-4048_-3951delCAGCCTCCCAAAGTCCTAGGATTACAGGCGTGAT TCACTATGCCCACCTCAGCCTCCCAAAGTCCTAGGATTACAGGCGTGATT CACTATGCCCACCT	FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding		3491		chrX	TogoVar
FARP1_chr13_98138094_98460176	98378956	ATAATATA others(91): Show ATAATATATACAATATATAATCTATATATAATATATATATAATATATACA ATATATAATCTATATATAATATATATAATATATACAATATGTAATCTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(42): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02155.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp2 NA18957.hp1 NA18980.hp1 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18999.hp1 NA19000.hp1 NA19007.hp1 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA20905.hp1 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0009 a0001c0001 a0001c0002 a0007c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0026 a0001c0001t0054 a0001c0001t0056 a0001c0001t0073 a0001c0001t0083 a0001c0001t0085 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0013 a0001c0002t0017 a0001c0002t0072 a0001c0002t0077 a0001c0002t0081 a0007c0009t0025	a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0054 others(42): Show a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0054 a0001c0001t0002g0162 a0001c0001t0004g0009 a0001c0001t0004g0123 a0001c0001t0004g0188 a0001c0001t0004g0197 a0001c0001t0005g0031 a0001c0001t0005g0036 a0001c0001t0005g0041 a0001c0001t0005g0056 a0001c0001t0005g0078 a0001c0001t0005g0082 a0001c0001t0007g0016 a0001c0001t0014g0116 a0001c0001t0015g0103 a0001c0001t0022g0206 a0001c0001t0026g0148 a0001c0001t0054g0182 a0001c0001t0056g0074 a0001c0001t0073g0146 a0001c0001t0083g0169 a0001c0001t0085g0023 a0001c0002t0001g0028 a0001c0002t0001g0083 a0001c0002t0001g0112 a0001c0002t0002g0065 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0178 a0001c0002t0003g0190 a0001c0002t0003g0192 a0001c0002t0006g0044 a0001c0002t0006g0053 a0001c0002t0006g0114 a0001c0002t0008g0113 a0001c0002t0008g0155 a0001c0002t0013g0191 a0001c0002t0017g0141 a0001c0002t0017g0143 a0001c0002t0072g0157 a0001c0002t0077g0077 a0001c0002t0081g0105 a0007c0009t0025g0085	45	218	0.2064	-98	c.496 others(115): Show c.496+1039_496+1136delTAATATATACAATATATAATCTATATAT AATATATATATAATATATACAATATATAATCTATATATAATATATATAAT ATATACAATATGTAATCTAT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	6/26			chr13	TogoVar
FILIP1_chr6_75303090_75498800	75441802	ACCTCCCG others(91): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGGCCCCCCCACCTC CCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGTAGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	306	0.0033	-98	c.-6- others(115): Show c.-6-26922_-6-26825delGAGGTGGGGGGGTCTACCCCCCGCCCGG CCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGCCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGG	FILIP1	ENSG00000118407.15	transcript	ENST00000237172.12	protein_coding	1/5			chr6	TogoVar
FMN1_chr15_32760544_33199714	32949956	TATATATA others(91): Show TATATATATACACACATATATATACACACACATATATATACACATACACA TATATATATACACATATATATATATATACACATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03453.hp1 HG02615.hp1 HG03453.hp1	a0012 a0039 a0012 a0039	a0012c0017 a0039c0080 a0012c0017 a0039c0080	a0012c0017t0087 a0039c0080t0071 a0012c0017t0087 a0039c0080t0071	a0012c0017t0087g0158 a0039c0080t0071g0181 a0012c0017t0087g0158 a0039c0080t0071g0181	2	196	0.0102	-98	c.313 others(119): Show c.3138+14053_3138+14150delGTGTATATATATATATATGTGTAT ATATATATATATGTGTATATATATATGTGTATGTGTATATATATGTGTGT GTATATATATGTGTGTATATATAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FREM1_chr9_14732152_14915428	14861224	TATATACA others(91): Show TATATACACATATATACACACATATATACATATATACACATATACACATA TATACATATATACATATATACATATATACACATATATACATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0073 a0073	a0073c0111 a0073c0111	a0073c0111t0001 a0073c0111t0001	a0073c0111t0001g0118 a0073c0111t0001g0118	1	346	0.0029	-98	c.330 others(115): Show c.330-1838_330-1741delGTGTATATATGTATATATGTGTATATAT GTATATATGTATATATGTATATATGTGTATATGTGTATATATGTATATAT GTGTGTATATATGTGTATAT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	3/36			chr9	TogoVar
FRMPD4_chrX_12133473_12729523	12331675	AATTATAT others(91): Show AATTATATATTTATATAATATATAAATATATAATATATAATTTATATATA GTATATAAATATATAATTTATATATTTATATACTATATATAAATTATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0023 a0002c0003t0001g0023	1	174	0.0058	-98	c.42- others(117): Show c.42-166988_42-166891delATATATAAATATATAATATATAATTT ATATATAGTATATAAATATATAATTTATATATTTATATACTATATATAAA TTATATATTATATATTTATATA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241806657	CAGCCCAG others(91): Show CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0141 a0002c0002t0002g0141	1	314	0.0032	-98	c.24 others(109): Show c.2492_*2589delAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2371		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132233052	AGAGGAGA others(91): Show AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGACAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0103 a0001c0003t0001g0103	1	183	0.0055	-98	c.107 others(119): Show c.1077+14760_1077+14857delCTGTCGCCCCATGGAGTGTGTGGC AGTAGGGGACTCCACGCTGTCTCCTCTGTCGCCCCATCGAGTGTGTGGCA CTAGGGACTCCACGCTGTCTCCTC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GCGR_chr17_81799150_81819008	81818910	GCCAACAC others(91): Show GCCAACACTACACGGCAGATAGTGACTTGTGTGTGCACGCCAACACTACA CGGCAGATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAGATAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0108	1	408	0.0025	-98	c.52 others(109): Show c.5222_*5319delCCAACACTACACGGCAGATAGTGACTTGTGTGTG CACGCCAACACTACACGGCAGATAGTGACTTGTGTGTGCACGCCAACACT ACACGGCAGATAGT	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		4903		chr17	TogoVar
GDI1_chrX_154432154_154448467	154448041	TTTTTTTG others(91): Show TTTTTTTGTTGTTCTTTTCTTTTTTTTCTTTCTTTTTTTTTTTTTTGAGA TGAGGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGTTTGATCACGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	283	0.0035	-98	c.53 others(109): Show c.5370_*5467delTTTTTTGTTGTTCTTTTCTTTTTTTTCTTTCTTT TTTTTTTTTTTGAGATGAGGTCTCACTCTGTTGCCCAGGCTAGAGTGCAG TGGTTTGATCACGG	GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding		4575		chrX	TogoVar
GFI1_chr1_92468043_92491925	92473741	AGAGAGCA others(91): Show AGAGAGCAGAGCCAGGCCCTAGGATGAAGCAGGAGCTTATTTTCTGTTTA TTCACTTAACATCTCAGTAAATATTTATTAATCTCCTACTGTGTGCCAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0100 a0001c0001t0031g0100	1	342	0.0029	-98	c.21 others(109): Show c.2190_*2287delCTGGCACACAGTAGGAGATTAATAAATATTTACT GAGATGTTAAGTGAATAAACAGAAAATAAGCTCCTGCTTCATCCTAGGGC CTGGCTCTGCTCTC	GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	7/7	2190		chr1	TogoVar
GFPT2_chr5_180295698_180358336	180296757	ACACACAC others(91): Show ACACACACACACACACACAAGGAAGTACAACACACACGTAAGAAAGTACA CACACGGAAGTACTTACCCCCCCCCCCACACACACACGGAAGTACTTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG03041.hp2 others(1): Show HG02258.hp2 HG02630.hp2 HG03041.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 a0001c0001 a0001c0012 a0002c0002	a0001c0001t0001 a0001c0012t0002 a0002c0002t0003 a0001c0001t0001 a0001c0012t0002 a0002c0002t0003	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0012t0002g0261 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0012t0002g0261 a0002c0002t0003g0087	4	412	0.0097	-98	c.47 others(109): Show c.4709_*4806delGTAAGTACTTCCGTGTGTGTGTGGGGGGGGGGGT AAGTACTTCCGTGTGTGTACTTTCTTACGTGTGTGTTGTACTTCCTTGTG TGTGTGTGTGTGTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3940		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180296857	ACACACAC others(91): Show ACACACACACACACACACACACACAAGGAAGTACAACACACACGTAAGGA AGTACACACACGGAAGTACCCCCCCACACACACACACGGAAGTACTTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0285 a0001c0004t0002g0285	1	412	0.0024	-98	c.46 others(109): Show c.4609_*4706delGTAAGTACTTCCGTGTGTGTGTGTGGGGGGGTAC TTCCGTGTGTGTACTTCCTTACGTGTGTGTTGTACTTCCTTGTGTGTGTG TGTGTGTGTGTGTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3840		chr5	TogoVar
GGACT_chr13_100525180_100593789	100550319	CACACACA others(91): Show CACACACACACACACACACACACACACACACACACACCACTGGCCCTTCT AAGGAAACTGGATGCGCTGAATGAATTAAATCCGAGCCGATTATACTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG01891.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0032 a0001c0001t0005g0024 a0001c0001t0005g0032	2	376	0.0053	-98	c.-10 others(117): Show c.-10-17816_-10-17719delAGAGTATAATCGGCTCGGATTTAATT CATTCAGCGCATCCAGTTTCCTTAGAAGGGCCAGTGGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar
GINS3_chr16_58387471_58411147	58396609	GGGGGGCT others(91): Show GGGGGGCTGATCCCCCCACCTCCCTTCCCGGACGGGGCGGCTGGCCGGGC GGTGGGCTGACCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	434	0.0023	-98	c.186 others(115): Show c.186+3828_186+3925delCTGATCCCCCCACCTCCCTTCCCGGACG GGGCGGCTGGCCGGGCGGTGGGCTGACCCCCCGACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGG	GINS3	ENSG00000181938.14	transcript	ENST00000318129.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
GLRA3_chr4_174631920_174834247	174787472	ATTTCTCA others(91): Show ATTTCTCATTTTCATTTGTATATTGTACCCTGTAAGCTGTACTATTTTTG TTTCTCATTTTCATTTGTATATTGTACCCTGTAAGCTGTACTATTTTTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02451.hp1 others(3): Show HG01884.hp1 HG02145.hp2 HG02451.hp1 HG03139.hp1 HG06807.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0083 a0001c0001t0084 a0001c0002t0016 others(2): Show a0001c0001t0083 a0001c0001t0084 a0001c0002t0016 a0001c0003t0021 a0001c0005t0007	a0001c0001t0083g0202 a0001c0001t0084g0020 a0001c0002t0016g0213 others(3): Show a0001c0001t0083g0202 a0001c0001t0084g0020 a0001c0002t0016g0213 a0001c0002t0016g0215 a0001c0003t0021g0148 a0001c0005t0007g0006	6	296	0.0203	-98	c.199 others(115): Show c.199+1246_199+1343delCAAAAATAGTACAGCTTACAGGGTACAA TATACAAATGAAAATGAGAAACAAAAATAGTACAGCTTACAGGGTACAAT ATACAAATGAAAATGAGAAA	GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	2/9			chr4	TogoVar
GOLGA3_chr12_132763914_132833869	132817204	AAGGTGAA others(91): Show AAGGTGAACCCGCCCTCCACACCTCCACGCTCTAAGGTGAACCCCCCCTC CACACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCACGCTCT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0247 a0004c0005t0005g0247	1	308	0.0033	-98	c.134 others(113): Show c.134-490_134-393delAGAGCGTGGAGGAGTGGAGGGCGGGTTCAC GTTAGAGTGTGGAGGTGTGGAGGGGGGGTTCACCTTAGAGCGTGGAGGTG TGGAGGGCGGGTTCACCT	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817249	CCCTCCAC others(91): Show CCCTCCACACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCACG CTCTAAGGTGAACCCGCCCTCCACACCTCCACGCTCTAAGGTGAACCCG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(109): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01517.hp2 HG01891.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02280.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0015 a0016 a0017	a0001c0001 a0001c0011 a0001c0018 others(12): Show a0001c0001 a0001c0011 a0001c0018 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0034 a0002c0002 a0002c0007 a0002c0012 a0006c0010 a0015c0021 a0016c0032 a0017c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0055 a0001c0001t0059 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0011t0001 a0001c0011t0074 a0001c0018t0019 a0001c0024t0002 a0001c0025t0003 a0001c0026t0001 a0001c0027t0001 a0001c0034t0001 a0002c0002t0002 a0002c0007t0001 a0002c0007t0031 a0002c0007t0076 a0002c0012t0002 a0002c0012t0011 a0006c0010t0006 a0006c0010t0046 a0006c0010t0047 a0015c0021t0068 a0016c0032t0001 a0017c0022t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(109): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0004g0079 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0010g0082 a0001c0001t0010g0083 a0001c0001t0010g0244 a0001c0001t0017g0001 a0001c0001t0017g0015 a0001c0001t0024g0094 a0001c0001t0024g0095 a0001c0001t0025g0040 a0001c0001t0026g0302 a0001c0001t0027g0306 a0001c0001t0028g0305 a0001c0001t0029g0304 a0001c0001t0030g0303 a0001c0001t0032g0107 a0001c0001t0033g0108 a0001c0001t0055g0009 a0001c0001t0059g0120 a0001c0001t0066g0031 a0001c0001t0067g0044 a0001c0001t0069g0032 a0001c0001t0071g0050 a0001c0001t0072g0075 a0001c0001t0073g0041 a0001c0001t0075g0128 a0001c0011t0001g0061 a0001c0011t0074g0067 a0001c0018t0019g0132 a0001c0024t0002g0100 a0001c0025t0003g0106 a0001c0026t0001g0099 a0001c0027t0001g0085 a0001c0034t0001g0062 a0002c0002t0002g0192 a0002c0007t0001g0092 a0002c0007t0031g0307 a0002c0007t0076g0076 a0002c0012t0002g0124 a0002c0012t0011g0125 a0006c0010t0006g0011 a0006c0010t0006g0012 a0006c0010t0006g0130 a0006c0010t0006g0131 a0006c0010t0046g0129 a0006c0010t0047g0134 a0015c0021t0068g0072 a0016c0032t0001g0034 a0017c0022t0001g0025	112	308	0.3636	-98	c.134 others(113): Show c.134-535_134-438delCGGGTTCACCTTAGAGCGTGGAGGTGTGGA GGGCGGGTTCACCTTAGAGCGTGGAGGAGTGGAGGGCGGGTTCACGTTAG AGTGTGGAGGTGTGGAGG	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817270	AACGTGAA others(91): Show AACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGTGAACCCGCCCTC CACACCTCCACGCTCTAAGGTGAACCCGCCCTCCACACCTCCACACTCT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0023 a0023	a0023c0040 a0023c0040	a0023c0040t0002 a0023c0040t0002	a0023c0040t0002g0234 a0023c0040t0002g0234	1	308	0.0033	-98	c.134 others(113): Show c.134-556_134-459delAGAGTGTGGAGGTGTGGAGGGCGGGTTCAC CTTAGAGCGTGGAGGTGTGGAGGGCGGGTTCACCTTAGAGCGTGGAGGAG TGGAGGGCGGGTTCACGT	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GPC6_chr13_93221807_94413020	93231327	ATACGTAT others(91): Show ATACGTATATATATATATACATATATATATATACGTATATATATATATAT ATACATATATATATATATATGTATATATATATATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18522.hp1 NA21309.hp2 HG03098.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0035 a0001c0001t0001 a0001c0001t0006 a0001c0001t0035	a0001c0001t0001g0071 a0001c0001t0006g0072 a0001c0001t0035g0073 a0001c0001t0001g0071 a0001c0001t0006g0072 a0001c0001t0035g0073	3	76	0.0395	-98	c.160 others(115): Show c.160+3714_160+3811delCGTATATATATATATACATATATATATA TACGTATATATATATATATATACATATATATATATATATGTATATATATA TATATATATATATATACGTA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93740174	AGCAACGG others(91): Show AGCAACGGCACATTGTTCTATGTCGTAAGGTCTAATTTTAATTATATTAA TAATTTATTGTTGATATACATTTTGTTGAAAGTGTACTAAAGAAGTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp1 HG01167.hp2 others(22): Show HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01256.hp1 HG01496.hp1 HG01975.hp2 HG01981.hp2 HG02055.hp1 HG02258.hp2 HG02615.hp1 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp2 HG04228.hp1 NA19012.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0029 a0001c0001t0034 a0001c0003t0011 a0001c0003t0014 a0001c0003t0030 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0033	a0001c0001t0001g0029 a0001c0001t0001g0069 a0001c0001t0002g0017 others(22): Show a0001c0001t0001g0029 a0001c0001t0001g0069 a0001c0001t0002g0017 a0001c0001t0002g0047 a0001c0001t0003g0065 a0001c0001t0004g0033 a0001c0001t0006g0025 a0001c0001t0006g0068 a0001c0001t0009g0016 a0001c0001t0012g0003 a0001c0001t0013g0055 a0001c0001t0015g0036 a0001c0001t0020g0061 a0001c0001t0023g0013 a0001c0001t0029g0007 a0001c0001t0034g0076 a0001c0003t0011g0015 a0001c0003t0014g0021 a0001c0003t0030g0024 a0002c0002t0002g0008 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0003g0011 a0002c0002t0008g0023 a0002c0002t0033g0041	25	76	0.3290	-98	c.320 others(117): Show c.320-89978_320-89881delCAACGGCACATTGTTCTATGTCGTAA GGTCTAATTTTAATTATATTAATAATTTATTGTTGATATACATTTTGTTG AAAGTGTACTAAAGAAGTTTTG	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	66545477	ACCTCCCG others(91): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(118): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03834.hp2 HG03927.hp1 HG06807.hp1 NA18612.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp2 NA18970.hp2 NA18973.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19080.hp1 NA19082.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0104 others(118): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0003g0165 a0001c0001t0006g0118 a0001c0001t0007g0231 a0001c0001t0008g0137 a0001c0001t0009g0139 a0001c0001t0010g0206 a0001c0002t0001g0144 a0001c0002t0001g0146	121	234	0.5171	-98	c.64+ others(115): Show c.64+36918_64+37015delAGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGG	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR37_chr7_124738885_124770792	124748255	TGAACTGG others(91): Show TGAACTGGGGGAAAAGGAGGGAAAAAAATGGCAAATTCTAACTGGGAGCC TGAACTTACATGGTGTTAGGATCAGAATTTCCAGGATCTACGTGGCTCA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0031 a0007c0018t0031	a0007c0018t0031g0098 a0007c0018t0031g0098	1	410	0.0024	-98	c.102 others(116): Show c.1024-1010_1024-913delTGAGCCACGTAGATCCTGGAAATTCTG ATCCTAACACCATGTAAGTTCAGGCTCCCAGTTAGAATTTGCCATTTTTT TCCCTCCTTTTCCCCCAGTTC	GPR37	ENSG00000170775.3	transcript	ENST00000303921.3	protein_coding	1/1			chr7	TogoVar
GPR89B_chr1_147923420_147998592	147949594	CAGGACCG others(91): Show CAGGACCGGGCAGCTGACGGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0256 a0001c0006t0007g0256	1	274	0.0037	-98	c.416 others(115): Show c.416-3750_416-3653delAGGACCGGGCAGCTGACGGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCTTCG	GPR89B	ENSG00000188092.15	transcript	ENST00000314163.12	protein_coding	5/13			chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46631389	ACTCCTGG others(91): Show ACTCCTGGGGACCGGGGATGGGTAGAACCTCACAGCCTGTGTCCTTTCGT CTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp2 HG01934.hp2 others(8): Show HG01361.hp2 HG01496.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG03688.hp1 HG04115.hp2 HG04204.hp1 NA18975.hp1 NA18991.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0046	a0001c0001t0001g0098 a0001c0002t0002g0071 a0001c0002t0004g0002 others(7): Show a0001c0001t0001g0098 a0001c0002t0002g0071 a0001c0002t0004g0002 a0001c0002t0004g0070 a0001c0002t0004g0086 a0001c0002t0004g0088 a0001c0002t0004g0099 a0001c0002t0004g0117 a0001c0002t0004g0118 a0001c0002t0046g0089	11	328	0.0335	-98	c.162 others(115): Show c.162+4461_162+4558delAGCCTGTGTCCTTTCGTCTCCTGGGGAC CGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACC GGGGATGGGTAGAACCTCAC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46631422	AGCCTGTG others(91): Show AGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0321 a0001c0004t0001g0321	1	328	0.0031	-98	c.162 others(115): Show c.162+4944_162+5041delACCTCACGGCCTGTGTCCTTTCGTCTCC TGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCT GGGGACCGGGGATGGGTAGA	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GYG2_chrX_2823930_2887818	2844694	GTGTATAC others(91): Show GTGTATACGCACACGCATGCGTATATGTGTATACGCACACGCATGCGTAT ATGTGTATACGCACACGTATGTGTATATGTACACGTATGCATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp2 HG03453.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0005 a0001c0003t0002 a0002c0002t0005	a0001c0003t0002g0045 a0002c0002t0005g0108 a0001c0003t0002g0045 a0002c0002t0005g0108	2	316	0.0063	-98	c.149 others(115): Show c.149+1342_149+1439delGTATACGCACACGCATGCGTATATGTGT ATACGCACACGCATGCGTATATGTGTATACGCACACGTATGTGTATATGT ACACGTATGCATATATATAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
H4C11_chr6_27819092_27829480	27827442	ACCTCCCG others(91): Show ACCTCCCGGACGGGGCGTCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGACGGCTGGCCGGGCGGGGGGCTGACGCCCCCACCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01361.hp1 HG01884.hp1 others(10): Show HG00735.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG02486.hp2 HG02615.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG06807.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	13	396	0.0328	-98	c.30 others(109): Show c.3007_*3104delCCTCCCGGACGGGGCGTCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGGGCT GACGCCCCCACCTC	H4C11	ENSG00000197238.5	transcript	ENST00000355057.3	protein_coding		2963		chr6	TogoVar

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