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
URI1_chr19_29937239_30021612	29957291	G G	GCCGCTTT others(297): Show GCCGCTTTTGTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(45): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00639.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG02056.hp1 HG02071.hp1 HG02293.hp1 HG02486.hp2 HG02615.hp2 HG02683.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18942.hp1 NA18946.hp1 NA18948.hp1 NA18953.hp2 NA18963.hp2 NA18970.hp1 NA18994.hp2 NA18995.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19060.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 a0001c0001t0001 a0001c0001t0011 a0002c0002t0002	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 others(44): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0011g0219 a0002c0002t0002g0003	48	328	0.1463	304	c.118 others(323): Show c.118-13888_118-13887insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCGCTTTTGTTTTT	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
USP13_chr3_179648040_179794401	179727828	C C	CGGCTGGC others(297): Show CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGAGCGGGGT GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGAGC GGGGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG03540.hp1 HG02280.hp1 HG02630.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0172 a0001c0002t0004g0187 a0001c0002t0004g0270 a0001c0002t0004g0172 a0001c0002t0004g0187 a0001c0002t0004g0270	3	300	0.0100	304	c.108 others(323): Show c.1089-2349_1089-2348insGGGGGGCTGACCCCCCCACCTCCCTC CCGAGCGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGG CAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGAGCGGGGTGGCTGGCCGGGC	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
VAV3_chr1_107566161_107970180	107599844	A A	ACTGAACT others(297): Show ACTGAACTATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19002.hp2 HG01952.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0131 a0002c0003t0003g0065 a0001c0001t0002g0131 a0002c0003t0003g0065	2	210	0.0095	304	c.222 others(323): Show c.2220+2552_2220+2553insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAGAATAGTTCAG	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	24/26			chr1	TogoVar
VGLL4_chr3_11551069_11648915	11605290	C C	CCCCCGCC others(297): Show CCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAA GCGCCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTC CATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAG CTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCCCGCCCACCCCCA ATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCCC GCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCCCC CCACG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0247 a0001c0002t0007g0247	1	388	0.0026	304	c.83- others(319): Show c.83-3269_83-3268insCGTGGGGGGCTTTGGAAGATGGAATTCACA GAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGGCGCTTTGGAAGA TGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGGC GCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGT GGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTG GGGGTGGGCGGGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCT GTGGAGGATTGGGGGTGGGCGGGG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VIPR2_chr7_159023175_159149867	159088856	A A	AGCTCCTC others(297): Show AGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0174 a0001c0005t0013g0174	1	336	0.0030	304	c.357 others(323): Show c.357+14900_357+14901insCGAGGCCTGAGGCTATTCCCATTCCA CAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC CGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGG CTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTC CACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGA GCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGA GGCTATTCCCATTCCACAGATGAGGAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VPS13B_chr8_99008274_99882580	99145582	T T	TTGCTCAT others(297): Show TTGCTCATTAAAACTACACATCTATCAGAATGGCTAAAATAAAAAGCAGT GACAAAACAAAATGCTGGGAAGATGTAAAGAAGCTGGATCACACAGTCAT CGTTGGATGGTAATGTAAAATGGTATGGCCACTCCTGAAAACAGCTTGGT AGTTTCTTTAAAAAAAATAATAAACATGCAACTACCATATGACCCAGCAA TTTATCCTGAAGAAATGTTTACACAAAAACCAGTACACAACTGTTCAGAG CAGCATTATTTGTAATAGCCCAAAACTAGAATAATCCCAAATATTCTTCC ATAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(44): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01256.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG01978.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02970.hp2 HG03195.hp2 HG03579.hp1 NA18522.hp1 NA18612.hp2 NA18950.hp1 NA18952.hp1 NA18984.hp2 NA18991.hp1 NA18992.hp2 NA19003.hp2 NA19004.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19078.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0016 a0018 a0020	a0001c0001 a0001c0002 a0001c0008 others(8): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0001c0021 a0002c0003 a0004c0009 a0006c0012 a0016c0017 a0018c0027 a0020c0030	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(12): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0008t0005 a0001c0011t0002 a0001c0021t0001 a0002c0003t0003 a0002c0003t0008 a0004c0009t0004 a0004c0009t0006 a0006c0012t0002 a0016c0017t0001 a0018c0027t0001 a0020c0030t0001	a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0027 others(44): Show a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0002t0002g0001 a0001c0002t0002g0016 a0001c0002t0009g0035 a0001c0008t0005g0104 a0001c0008t0005g0125 a0001c0011t0002g0007 a0001c0021t0001g0122 a0002c0003t0003g0034 a0002c0003t0008g0028 a0002c0003t0008g0036 a0004c0009t0004g0121 a0004c0009t0006g0120 a0006c0012t0002g0022 a0016c0017t0001g0017 a0018c0027t0001g0020 a0020c0030t0001g0103	47	134	0.3508	304	c.184 others(323): Show c.1844-2257_1844-2256insCTCATTAAAACTACACATCTATCAGA ATGGCTAAAATAAAAAGCAGTGACAAAACAAAATGCTGGGAAGATGTAAA GAAGCTGGATCACACAGTCATCGTTGGATGGTAATGTAAAATGGTATGGC CACTCCTGAAAACAGCTTGGTAGTTTCTTTAAAAAAAATAATAAACATGC AACTACCATATGACCCAGCAATTTATCCTGAAGAAATGTTTACACAAAAA CCAGTACACAACTGTTCAGAGCAGCATTATTTGTAATAGCCCAAAACTAG AATAATCCCAAATATTCTTCCATAAGTG	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	13/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VSIG10L_chr19_51326541_51347139	51345674	A A	ATGCTGAA others(297): Show ATGCTGAAGGTTCCCAATAGGCTGAGATGATGCACTGAACCCTCCCTATA GACTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGA ACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAG ATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCC CTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGC GCTGAACCCTCCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGG CTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0001 a0000c0001t0001	a0000c0001t0001g0081 a0000c0001t0001g0081	1	452	0.0022	304	c.-35 others(315): Show c.-3551_-3550insCTCAGCCTATAGGGAGGGTTCAGGGCATCATCTC AGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCA GCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTAT AGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATC ATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGG GTTCAGCGCATCATCTCAGTCTATAGGGAGGGTTCAGTGCATCATCTCAG CCTATTGGGAACCTTCAGCA	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3536		chr19	TogoVar
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(297): Show ACAGGACTCATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0084	1	382	0.0026	304	c.143 others(319): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCAAGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82631596	T T	TTTTTTTT others(297): Show TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGG ACTCA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0363 a0001c0001t0003g0363	1	382	0.0026	304	c.143 others(319): Show c.143-575_143-574insTGAGTCCTGGCCGGGCGCGGTGGCTCACGC CTGTAATCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAA	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR64_chr1_241647281_241807777	241675073	G G	GCCTCCCT others(297): Show GCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	326	0.0031	304	c.483 others(319): Show c.483+337_483+338insCCTTCCCTCCTCCCTCCCTCCTTCCCTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675073	G G	GCCTCCCT others(297): Show GCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCT TCCTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01123.hp1 HG01168.hp2 others(10): Show HG00438.hp1 HG01123.hp1 HG01168.hp2 HG01433.hp2 HG01934.hp1 HG01975.hp2 HG02071.hp2 NA18941.hp1 NA18944.hp1 NA18948.hp2 NA18961.hp2 NA18967.hp2 NA19057.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0002 a0008c0007 others(1): Show a0001c0001 a0001c0002 a0008c0007 a0009c0019	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0008c0007t0002 a0009c0019t0001	a0001c0001t0001g0069 a0001c0001t0001g0159 a0001c0001t0001g0223 others(10): Show a0001c0001t0001g0069 a0001c0001t0001g0159 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0247 a0001c0001t0004g0235 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0146 a0001c0002t0002g0070 a0001c0002t0008g0263 a0008c0007t0002g0294 a0009c0019t0001g0071	13	326	0.0399	304	c.483 others(319): Show c.483+337_483+338insCCTTCCCTCCTCCCTCCCTCCTTCCCTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTTCTTCCTTCCTCCCTCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(297): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0062 a0002c0004t0003g0062	1	326	0.0031	304	c.483 others(319): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
XG_chrX_2747040_2821500	2773502	A A	AGAAGGAA others(297): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0293 a0001c0001t0016g0293	1	322	0.0031	304	c.104 others(321): Show c.104-1071_104-1070insAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773502	A A	AGAAGGAA others(297): Show AGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAG AGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAG GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	322	0.0031	304	c.104 others(321): Show c.104-1196_104-1195insGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGCGAAGGAAGGAAGGAGAGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773518	A A	AGAAGGAA others(297): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	322	0.0031	304	c.104 others(321): Show c.104-1071_104-1070insAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XXYLT1_chr3_195063284_195276159	195110337	A A	ATGTGTGT others(297): Show ATGTGTGTGGTGTATGTGTGCATGTGTGTGTGAGGTGTATGGGTGAGGTG CGTGTGTGGTGTATGTGTGCGTGTGTGTGGTGTATAAGTGTGTGTGGTGG TGTATGTGTGTGAGGTGTGTGTATGCGTGTGTGTGGGGGTGAGGTGTGTG TGGTGTATGTGTGTGGTGTATAAGTGTGTGTGGTGTGTGCGTGTGTATGT AGTGTGTGGGGTGTATGTGTGCGTGTGTGGTATATAAGTGTGTGTGTGGT GTGGTGTATGTGTGTGTGGGTGAGGTGTGTCTGTACGTGGTGTATGTGTG TGGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18906.hp2 HG02922.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0066 a0001c0004t0001g0067	2	198	0.0101	304	c.786 others(323): Show c.786-40227_786-40226insCACCACACACATACACCACGTACAGA CACACCTCACCCACACACACATACACCACACCACACACACACTTATATAC CACACACGCACACATACACCCCACACACTACATACACACGCACACACCAC ACACACTTATACACCACACACATACACCACACACACCTCACCCCCACACA CACGCATACACACACCTCACACACATACACCACCACACACACTTATACAC CACACACACGCACACATACACCACACACGCACCTCACCCATACACCTCAC ACACACATGCACACATACACCACACACA	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
ZBTB42_chr14_104796101_104809712	104808224	G G	GAGCACCC others(297): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	99	0.0101	304	c.57 others(315): Show c.5758_*5759insAGCACCCCCAGACTCCCCAGGATAACAAGGCCGT ACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCC CAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAG GATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCC GTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACC CCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCC AGGATAACAAGGCCGTACAC	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3513		chr14	TogoVar
ZMYM5_chr13_19818482_19868649	19832900	T T	TAAAAAAA others(297): Show TAAAAAAATTGTTTTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCTAAAATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0271 a0003c0003t0003g0271	1	296	0.0034	304	c.125 others(323): Show c.1251+2576_1251+2577insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCAGGGTGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTCAAAACAATTTTTTT	ZMYM5	ENSG00000132950.19	transcript	ENST00000337963.9	protein_coding	7/7			chr13	TogoVar
ZNF320_chr19_52871180_52902635	52888469	T T	TTGTAAAC others(297): Show TTGTAAACAATACAAGAAAGAAATAAAAAATCAATGCAGAGCTCCTGTTA CAGAGATGCTTGAAACTTTTATGGACACACCAAGTGACATTCGGTATCTC GATGCTACACAGCATGAGTGACGTCTTCAAAGATGACAACGTCCACAGTT AAAGATCAGCTGGGCGCAGTGACATATGTCTGTAATCCCAGCTACATGGG AGGCTGAGGCAGGAGAATGGCTTGATCCTGGGAGGCAGAGGTTGCCGTGA TCCCAGATTGCATCACTGTACTCCAGCGTGGGCAACAGAAACTCCATCTC AAAAA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0219 a0001c0002t0002g0219	1	442	0.0023	304	c.16- others(317): Show c.16-217_16-216insTTTTTGAGATGGAGTTTCTGTTGCCCACGCTG GAGTACAGTGATGCAATCTGGGATCACGGCAACCTCTGCCTCCCAGGATC AAGCCATTCTCCTGCCTCAGCCTCCCATGTAGCTGGGATTACAGACATAT GTCACTGCGCCCAGCTGATCTTTAACTGTGGACGTTGTCATCTTTGAAGA CGTCACTCATGCTGTGTAGCATCGAGATACCGAATGTCACTTGGTGTGTC CATAAAAGTTTCAAGCATCTCTGTAACAGGAGCTCTGCATTGATTTTTTA TTTCTTTCTTGTATTGTTTACA	ZNF320	ENSG00000182986.15	transcript	ENST00000682928.1	protein_coding	4/5			chr19	TogoVar
ZNF433_chr19_12009715_12040679	12040199	C C	CGGTGGCT others(297): Show CGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGATGTCGGGAGATGGAGACCATCCTGACTAACACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGTCAGGCGTGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCGGAGATGGCGCCACTGCACTCCAGCCTGGG GGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACAGGCCG GGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	342	0.0029	304	c.-46 others(315): Show c.-4661_-4660insACTCCCGGCCTGTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCCATCTC CGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGACTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGGTC TCCATCTCCCGACATCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACC	ZNF433	ENSG00000197647.13	transcript	ENST00000550507.7	protein_coding		4521		chr19	TogoVar
ZNF516_chr18_76352682_76500242	76357495	C C	CGTACCCA others(297): Show CGTACCCAGCGGAGAGTGGCGTACCCAGCGCAGAGTGGCGTACCCAGCGG AGAGTGGCGTACCCAGCGCAGAGTGGCGTACCCAGCGGAGAGTGGCGTAC CCAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGT GGTGTACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGCGTACCCAGC GGAGAGTGGTGTACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGTGT ACCCAGCGGAGAGTGGCGTACCCAGCGCAGAGTGGTGTACTCAGCGGAGA GTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0059 a0001c0001t0145g0059	1	346	0.0029	304	c.50 others(315): Show c.5002_*5003insACCACTCTCCGCTGAGTACACCACTCTGCGCTGG GTACGCCACTCTCCGCTGGGTACACCACTCTCCGCTGGGTACGCCACTCT CCGCTGGGTACACCACTCTCCGCTGGGTACGCCACTCTCCGCTGGGTACG CCACTCTCCGCTGGGTACACCACTCTCCGCTGGGTACGCCACTCTCCGCT GGGTACGCCACTCTCCGCTGGGTACGCCACTCTCCGCTGGGTACGCCACT CTGCGCTGGGTACGCCACTCTCCGCTGGGTACGCCACTCTGCGCTGGGTA CGCCACTCTCCGCTGGGTAC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding		186		chr18	TogoVar
ZNF543_chr19_57315472_57335770	57319211	T T	TATACATA others(297): Show TATACATATACATACATATATACATATATACATATACATACATATATACA TATATACATATACATACATATATATACATATATATACATATACATACATA TATACATATATACATATACATACATATACATACATATATACATATACATA CATATACATACATATATATACATATATACATATACATACATATATACATA TATATACATATACATACATATATATACATATATATACATATACATACATA TATATACATATATATACATATACATACATATACATACATATATACATATA CATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG03834.hp2 HG02683.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	460	0.0044	304	c.-16 others(315): Show c.-1643_-1642insATACATATACATACATATATACATATATACATAT ACATACATATATACATATATACATATACATACATATATATACATATATAT ACATATACATACATATATACATATATACATATACATACATATACATACAT ATATACATATACATACATATACATACATATATATACATATATACATATAC ATACATATATACATATATATACATATACATACATATATATACATATATAT ACATATACATACATATATATACATATATATACATATACATACATATACAT ACATATATACATATACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1260		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319211	T T	TATACATA others(297): Show TATACATATACATACATATATACATATATACATATACATACATATATACA TATATACATATACATACATATATATACATATATATACATATACATACATA TATACATATATACATATACATACATATACATACATATATACATATACATA CATATACATACATATATATACATATATACATATACATACATATATACATA TATATACATATACATACATATATATACATATATATACATATACATACATA TATATACATATATATACATATACATACATATATACATATATATACATATA CATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 NA18941.hp2 NA18961.hp1 others(5): Show HG03490.hp1 NA18941.hp2 NA18961.hp1 NA18968.hp2 NA18971.hp1 NA18989.hp1 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0112 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0007g0116	8	460	0.0174	304	c.-16 others(315): Show c.-1643_-1642insATACATATACATACATATATACATATATACATAT ACATACATATATACATATATACATATACATACATATATATACATATATAT ACATATACATACATATATACATATATACATATACATACATATACATACAT ATATACATATACATACATATACATACATATATATACATATATACATATAC ATACATATATACATATATATACATATACATACATATATATACATATATAT ACATATACATACATATATATACATATATATACATATACATACATATATAC ATATATATACATATACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1260		chr19	TogoVar
ABHD10_chr3_111974026_111998368	111993483	T T	TGGGTTAT others(298): Show TGGGTTATCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	424	0.0024	305	c.17 others(316): Show c.1762_*1763insGGGTTATCTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding		116		chr3	TogoVar
ACOT11_chr1_54543228_54615329	54561714	G G	GGCTGGCC others(298): Show GGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGAC GGGGCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02145.hp2 HG03130.hp2 others(3): Show HG00609.hp2 HG02145.hp2 HG03130.hp2 HG03516.hp1 HG03710.hp1 NA18962.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0012	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0005c0005t0003 a0012c0021t0002	a0001c0001t0001g0027 a0001c0001t0002g0301 a0001c0001t0002g0311 others(3): Show a0001c0001t0001g0027 a0001c0001t0002g0301 a0001c0001t0002g0311 a0002c0002t0003g0072 a0005c0005t0003g0026 a0012c0021t0002g0313	6	388	0.0155	305	c.33+ others(322): Show c.33+13383_33+13384insGGGGGGCTGACCCCCCAACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCA CCTCCCGGACGGGGCAGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACVR2A_chr2_147840029_147935822	147892494	A A	AAACTTTT others(298): Show AAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp1 HG01123.hp2 others(33): Show HG00735.hp1 HG01123.hp1 HG01123.hp2 HG01358.hp1 HG01943.hp1 HG01943.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG02738.hp1 HG03209.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18943.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18991.hp1 NA18995.hp2 NA19006.hp1 NA19075.hp2 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0006 a0003c0007 a0001c0002 a0002c0006 a0003c0007	a0001c0002t0001 a0001c0002t0006 a0001c0002t0025 others(3): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0025 a0001c0002t0026 a0002c0006t0011 a0003c0007t0001	a0001c0002t0001g0006 a0001c0002t0001g0027 a0001c0002t0001g0029 others(32): Show a0001c0002t0001g0006 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0138 a0001c0002t0001g0147 a0001c0002t0006g0084 a0001c0002t0006g0099 a0001c0002t0025g0044 a0001c0002t0026g0102 a0002c0006t0011g0086 a0003c0007t0001g0088	36	338	0.1065	305	c.56- others(320): Show c.56-3798_56-3797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCAACTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147892503	T T	TTTTTTTT others(298): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAAC TTTTTA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	338	0.0030	305	c.56- others(320): Show c.56-3798_56-3797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCAACTTTTTA	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10			chr2	TogoVar
ADAMTS2_chr5_179105853_179350461	179337886	T T	TCACCCAC others(298): Show TCACCCACCCAGGTGAGGCCCCTGTGAGCCTCACAGCAGGCCTGGGTGAG GACCTGGCCTTCACCTCCCAGCTGACTCTGCACGAGGGCCTGAATTCACT CACTCACCCAGGTGTGGCCCCTATGAGCCTCACAGCAGGCCTGGGTGAGG ACCTGGCCTTCACCTCCCAGCTGACTCTGCACGAGGGCCTGAATTCACTC ACTCACCCAGGTGTGGCCCCTATGAGCCTCACAGCAGGCCTGGGTGAGGA CCTGGCCTTCACCTCCCAGCTGACTCTGCACGAGGGCCTGAATTCACTCA CTCACC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0014 a0014	a0014c0038 a0014c0038	a0014c0038t0002 a0014c0038t0002	a0014c0038t0002g0219 a0014c0038t0002g0219	1	276	0.0036	305	c.534 others(322): Show c.534+5880_534+5881insGGTGAGTGAGTGAATTCAGGCCCTCGTG CAGAGTCAGCTGGGAGGTGAAGGCCAGGTCCTCACCCAGGCCTGCTGTGA GGCTCATAGGGGCCACACCTGGGTGAGTGAGTGAATTCAGGCCCTCGTGC AGAGTCAGCTGGGAGGTGAAGGCCAGGTCCTCACCCAGGCCTGCTGTGAG GCTCATAGGGGCCACACCTGGGTGAGTGAGTGAATTCAGGCCCTCGTGCA GAGTCAGCTGGGAGGTGAAGGCCAGGTCCTCACCCAGGCCTGCTGTGAGG CTCACAGGGGCCTCACCTGGGTGGGTG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGGAGGA others(298): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAG GGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGAGGAGA GGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGG GAGGGGGAGGAGGGAAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAAGG GGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGG AGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGG GAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0070 a0001c0001t0008g0070	1	352	0.0028	305	c.51 others(316): Show c.5172_*5173insCTCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCGT CCCCTCCTCCCCGCCCTCCCCTCCTCCCCCGTCCCCTCCTCCCCGCCCTC CCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCC TCCTCCCCTCTCCCCCTCCCCCTCTCCTCCCTCCCCTCCTCCCTCCTCCC CCCTCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCCTCCCCT CCTCCCTCTTCCCCTCCTCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4179		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGGAGGA others(298): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGA GGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGG GGGAGGAGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGG GAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAG GGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG03688.hp2 HG01169.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0021 a0001c0001t0009 a0001c0002t0021	a0001c0001t0009g0041 a0001c0002t0021g0151 a0001c0001t0009g0041 a0001c0002t0021g0151	2	352	0.0057	305	c.51 others(316): Show c.5172_*5173insCGTCCCCTCCTCCCCGCCCTCCCCTCCTCCCCCC TCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTC CCCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTC CTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCCTCCCC TCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCT CCTCCCTCTTCCCCTCCTCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4179		chr19	TogoVar
ADARB1_chr21_45069580_45231560	45156122	T T	TCCACCCA others(298): Show TCCACCCATCATCACCTATCATCCATCATCCATTCATCCACCCATCCATC CACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCCACCCA CCCACCCACCCATCATCACCCATCACCCATCATCTATCTATCCATCCATC CACCCATCCATCATTACCCATCATCCATCTATCCATGCACCCACCCACCA TCACCCATCATCCACCCACCCAACCACCCACCATCACCCATCATCCATCA TCCATTCATCCATCCATCTGCCCACCCACCCATCATCCATTCATCCATCC ATCCAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03453.hp1 NA19030.hp2 HG02258.hp2 HG03453.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0095 a0001c0002t0099 a0001c0013t0093 a0001c0002t0095 a0001c0002t0099 a0001c0013t0093	a0001c0002t0095g0032 a0001c0002t0099g0046 a0001c0013t0093g0034 a0001c0002t0095g0032 a0001c0002t0099g0046 a0001c0013t0093g0034	3	350	0.0086	305	c.-47 others(324): Show c.-47-15449_-47-15448insCCCATCCATCCACCTACCCATCATCA CCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCACCCATCAT CACCCATCACCCATCATCTATCTATCCATCCATCCACCCATCCATCATTA CCCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACC CACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCA TCTGCCCACCCACCCATCATCCATTCATCCATCCATCCACCCACCCATCA TCACCTATCATCCATCATCCATTCATCCA	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB1_chr21_45069580_45231560	45156122	T T	TCCACCCA others(298): Show TCCACCCATCATCACCTATCATCCATCATCCATTCATCCACCCATCCATC CACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCCACCCA CCCACCCACCCATCATCACCCATCACCCATCATCTATCTATCCATCCATC CATCCACCCATCATTACCCATCATCCATCTATCCATGCACCCACCCACCA TCACCCATCATCCACCCACCCAACCACCCACCATCACCCATCATCCATCA TCCATTCATCCATCCATCTGCCCACCCACCCATCATCCATTCATCCATCC ATCCAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0096 a0001c0003t0096	a0001c0003t0096g0039 a0001c0003t0096g0039	1	350	0.0029	305	c.-47 others(324): Show c.-47-15449_-47-15448insCCCATCCATCCACCTACCCATCATCA CCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCACCCATCAT CACCCATCACCCATCATCTATCTATCCATCCATCCATCCACCCATCATTA CCCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACC CACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCA TCTGCCCACCCACCCATCATCCATTCATCCATCCATCCACCCACCCATCA TCACCTATCATCCATCATCCATTCATCCA	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB1_chr21_45069580_45231560	45156162	T T	CCCATCCA others(298): Show CCCATCCATCCACCTACCCATCATCACCCATCATCTGTCATCCATCCATC CATCCACCCACCCACCCACCCATCATCACCCATCACCCATCATCTATCTA TCCATCCATCCACCCATCCATCATTACCCATCATCCATCTATCCATGCAC CCACCCACCATCACCCATCATCCACCCACCCAACCACCCACCATCACCCA TCATCCATCATCCATTCATCCATCCATCTGCCCACCCACCCATCATCCAT TCATCCATCCATCCACCCACCCATCATCACCTATCATCCATCATCCATTC ATCCAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02896.hp1 others(2): Show HG01261.hp1 HG02055.hp1 HG02896.hp1 HG02897.hp1 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0026 a0001c0004t0029 a0001c0008t0028 a0001c0004t0026 a0001c0004t0029 a0001c0008t0028	a0001c0004t0026g0103 a0001c0004t0029g0099 a0001c0004t0029g0338 others(2): Show a0001c0004t0026g0103 a0001c0004t0029g0099 a0001c0004t0029g0338 a0001c0008t0028g0100 a0001c0008t0028g0101	5	350	0.0143	305	c.-47 others(324): Show c.-47-15449_-47-15448insCCCATCCATCCACCTACCCATCATCA CCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCACCCATCAT CACCCATCACCCATCATCTATCTATCCATCCATCCACCCATCCATCATTA CCCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACC CACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCA TCTGCCCACCCACCCATCATCCATTCATCCATCCATCCACCCACCCATCA TCACCTATCATCCATCATCCATTCATCCA	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10			chr21	TogoVar
ADCY4_chr14_24313359_24340071	24325222	G G	GCTTTGGG others(298): Show GCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAA GGGCCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02258.hp1 HG02897.hp2 others(1): Show HG01952.hp1 HG02258.hp1 HG02897.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0003t0004	a0001c0001t0004g0267 a0001c0001t0006g0309 a0001c0001t0007g0158 others(1): Show a0001c0001t0004g0267 a0001c0001t0006g0309 a0001c0001t0007g0158 a0001c0003t0004g0297	4	438	0.0091	305	c.182 others(322): Show c.1823+154_1823+155insTGGCCCTTATCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAG	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	14/24			chr14	TogoVar
ADCY4_chr14_24313359_24340071	24325222	G G	GCTTTGGG others(298): Show GCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAA GGGCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0300 a0001c0003t0004g0300	1	438	0.0023	305	c.182 others(322): Show c.1823+154_1823+155insTGGCCCTTATCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAG	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	14/24			chr14	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(298): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0022	1	218	0.0046	305	c.32- others(318): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AFMID_chr17_78182362_78212702	78210857	T T	TTTTTTTT others(298): Show TTTTTTTTTTTCCGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTG CAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCG ATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGACTGCAGGCGCGCACCAC CACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATAT TGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTCAGCC TCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTCTTTTT TCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01069.hp1 others(17): Show HG00099.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01361.hp2 HG01515.hp2 HG01993.hp2 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03490.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp2 NA20805.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0003c0012 others(1): Show a0001c0001 a0003c0003 a0003c0012 a0006c0008	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(10): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0003c0003t0005 a0003c0003t0013 a0003c0003t0020 a0003c0003t0027 a0003c0003t0037 a0003c0012t0005 a0006c0008t0013 a0006c0008t0036	a0001c0001t0002g0285 a0001c0001t0005g0248 a0001c0001t0006g0006 others(17): Show a0001c0001t0002g0285 a0001c0001t0005g0248 a0001c0001t0006g0006 a0001c0001t0006g0039 a0001c0001t0009g0003 a0001c0001t0009g0282 a0001c0001t0014g0003 a0003c0003t0005g0212 a0003c0003t0005g0247 a0003c0003t0005g0286 a0003c0003t0013g0262 a0003c0003t0013g0272 a0003c0003t0020g0255 a0003c0003t0020g0256 a0003c0003t0020g0265 a0003c0003t0027g0290 a0003c0003t0037g0273 a0003c0012t0005g0167 a0006c0008t0013g0376 a0006c0008t0036g0353	20	446	0.0448	305	c.39 others(316): Show c.3920_*3921insTTTTTTTTTTCCGAGACAGAGTTTCACTCTTGTT GCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACC TCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGACT GCAGGCGCGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAC AGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGAT CTGCCCACCTCAGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCG CGCCTGGCTCTTTTTTCTTTC	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding		3156		chr17	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATAGTATA others(298): Show ATAGTATATATATTCTATATACAGAATATATATACTATATATATTCTATA TATAGAATATATATACTATATATATTCTATATATAGAATATATATACTGT ATATATATATATATATATTCTGTATATAGAATATATATAGTATATATATT CTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATAT ACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATA TAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATAT TAATTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01261.hp1 others(1): Show HG01106.hp1 HG01109.hp2 HG01261.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0148 a0001c0001t0002g0079	4	236	0.0170	305	c.409 others(324): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGTA TATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAGA ATATATATAGTATATATATTCTATATACAGAATATATATACTATATATAT TCTATATACAGAATATATATATATATATATACAGTATATATATTCTATAT ATAGAATATATATAGTATATATATTCTATATATAGAATATATATAGTATA TATATTCTGTATATAGAATATATATACTA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATAGTATA others(298): Show ATAGTATATATATTCTATATATAGAATATATATACTATATATATTCTATA TATAGAATATATATACTATATATATTCTATATATAGAATATATATACTGT ATATATATATATATATATTCTGTATATAGAATATATATAGTATATATATT CTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATAT ACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATA TAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATAT TAATTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	236	0.0042	305	c.409 others(324): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGTA TATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAGA ATATATATAGTATATATATTCTATATACAGAATATATATACTATATATAT TCTATATACAGAATATATATATATATATATACAGTATATATATTCTATAT ATAGAATATATATAGTATATATATTCTATATATAGAATATATATAGTATA TATATTCTATATATAGAATATATATACTA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	318212	A A	ACCTCCCC others(298): Show ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCT CCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCAC CTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTC CACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCC CATCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0185 a0003c0004t0004g0185	1	268	0.0037	305	c.-36 others(316): Show c.-3618_-3617insCCTCCCCCCACCCTCCATCTGCCCCCAACCCTGC ACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCAC CCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGC CCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTG CCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATC TCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTA CCCTGCACCTCTCCCCATCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3501		chr5	TogoVar
AK5_chr1_77277019_77564966	77367820	A A	AATATATG others(298): Show AATATATGTTATATGTTATATATAATATATGTTATATGTTATATATAATA TATGTTATATGTTATATATAATATATGTTATATGTTATATATAATATATG TTATATATTATATATAATATATGTTATATATTATATATAATATATGTTAT ATATTATATATAATATATGTTATATATTATATATAATATATGTTATATAT ATTATATATTATATGTTATATATATTATATATAATATGTTATATATATTA TATATAACATATATTATATATAATATATATGTTATATATATTATATATAA TATATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0091 a0001c0009t0004g0091	1	284	0.0035	305	c.891 others(324): Show c.891+27252_891+27253insATATATGTTATATGTTATATATAATA TATGTTATATGTTATATATAATATATGTTATATGTTATATATAATATATG TTATATGTTATATATAATATATGTTATATATTATATATAATATATGTTAT ATATTATATATAATATATGTTATATATTATATATAATATATGTTATATAT TATATATAATATATGTTATATATATTATATATTATATGTTATATATATTA TATATAATATGTTATATATATTATATATAACATATATTATATATAATATA TATGTTATATATATTATATATAATATATG	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13			chr1	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(298): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCGCTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAG TGGGAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0154 a0001c0002t0036g0154	1	386	0.0026	305	c.186 others(324): Show c.1863+2109_1863+2110insTTCCCACTCTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDOB_chr9_101415560_101440774	101419833	T T	TCATCCTT others(298): Show TCATCCTTGATTATAAATTCATGGTTAACTGATAAGAATCTGAGAGGTTT CTTTAGATACCTCTTAAAATATCTAAAGAATTCAGCGATGCTAAGTAGGA TCTAGATAAAAACTATCTGGCAGAAAAGCTTTGTCTCACAAGGTGTTACC TACCTGCTTTTAGGACAGCTTGGCACATAGTAGGAGATGAAGTGCTTGAT GATTGACTGAAATGTACAAGGAGAAATGTACAAGACTACACCACGGGTGG CAGAGATATTGAACACAGCCTGTCACCTTGCCCTGTAAGATCTCTGGCTG TGTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01074.hp1 HG01167.hp2 others(8): Show HG00280.hp2 HG01074.hp1 HG01167.hp2 HG01261.hp1 HG02735.hp1 HG03098.hp2 HG03239.hp1 HG03834.hp2 HG04184.hp2 HG04228.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010	a0001c0001t0005g0016 a0001c0001t0005g0073 a0001c0001t0005g0095 others(4): Show a0001c0001t0005g0016 a0001c0001t0005g0073 a0001c0001t0005g0095 a0001c0001t0005g0115 a0001c0001t0006g0026 a0001c0001t0006g0074 a0001c0001t0010g0089	11	418	0.0263	305	c.19 others(316): Show c.1975_*1976insGATACACAGCCAGAGATCTTACAGGGCAAGGTGA CAGGCTGTGTTCAATATCTCTGCCACCCGTGGTGTAGTCTTGTACATTTC TCCTTGTACATTTCAGTCAATCATCAAGCACTTCATCTCCTACTATGTGC CAAGCTGTCCTAAAAGCAGGTAGGTAACACCTTGTGAGACAAAGCTTTTC TGCCAGATAGTTTTTATCTAGATCCTACTTAGCATCGCTGAATTCTTTAG ATATTTTAAGAGGTATCTAAAGAAACCTCTCAGATTCTTATCAGTTAACC ATGAATTTATAATCAAGGATG	ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding		726		chr9	TogoVar
ANKLE2_chr12_132720503_132766832	132759167	A A	AGTGGCAC others(298): Show AGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCACAGCGTGGCA CCCCGGGGCACCCACGTGGCAGAGAGGATCGTGCGGACTGGCACCCCGGG GCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCC ACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGG CAGAGTGGATCGCTGCGGAGTGGCACCCCAGGGCACCCACGTGGCAGAGT GGATCGCTGCGGAGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATTG CGCAGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18942.hp2 HG02027.hp2 NA18942.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0162 a0004c0004t0001g0163	2	350	0.0057	305	c.181 others(322): Show c.181+2450_181+2451insACTGCGCAATCCACTCTGCCATGTGGGT GCCCTGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCTG GGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGC CACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCC GCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCAGTCCGCACGA TCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACGCTGTGCGATCCACTC TGCCACGTGGGTGCCCCGGGGTGCCAC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKRD11_chr16_89262630_89495561	89398272	T T	TTACCTGT others(298): Show TTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACGCTGTGAA ACAGATGAAGACTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGG GACACTGTGAAACAGCTGAAGATTACCTGTGACCTCAGCACTCTGGGAGG CTGACATGAGGGACACTGTGAAACAGATGAAGACTACCTGTGACCTCAGC ACTCTGGGAGGCTGACATGAGGGACACTGTGAAACAGATGAAGATTACCT GTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACACTGTGAAACAGAT GAAGAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	310	0.0032	305	c.-60 others(324): Show c.-60+20011_-60+20012insGTCTTCATCTGTTTCACAGTGTCCCT CATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCATCTGTTTC ACAGTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAGTCT TCATCTGTTTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTC ACAGGTAATCTTCAGCTGTTTCACAGTGTCCCTCATGTCAGCCTCCCAGA GTGCTGAGGTCACAGGTAGTCTTCATCTGTTTCACAGCGTCCCTCATGTC AGCCTCCCAGAGTGCTGAGGTCACAGGTA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANO10_chr3_43360848_43627011	43571009	C C	CAAAAAGT others(298): Show CAAAAAGTGGGCGAAGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GTGGATCATGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTAC TAAAAATAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGACTGCGCCACTGTACTCCAGCCTGGGTGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0137 a0003c0008t0001g0137	1	224	0.0045	305	c.121 others(324): Show c.1218+3799_1218+3800insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTAC AGTGGCGCAGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CACGCCCGGCTAATTTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCG TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAAGCTTCGCCCACTTTTT	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	7/12			chr3	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(298): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0067 a0002c0001t0001g0067	1	370	0.0027	305	c.494 others(320): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ARHGAP18_chr6_129571132_129715177	129573951	C C	CAAAAATT others(298): Show CAAAAATTAACTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01358.hp2 others(9): Show HG00423.hp2 HG00544.hp2 HG01358.hp2 HG01952.hp1 HG02129.hp2 HG02148.hp2 HG02523.hp1 NA18944.hp1 NA18954.hp2 NA18964.hp1 NA18990.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0084 a0001c0001t0001g0146 a0001c0001t0001g0148 others(9): Show a0001c0001t0001g0084 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0002g0152 a0001c0001t0002g0162	12	238	0.0504	305	c.45 others(316): Show c.4561_*4562insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCGAGTTAATTTTT	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding		2180		chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129573951	C C	CAAAAATT others(298): Show CAAAAATTAACTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(46): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00735.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01433.hp1 HG01928.hp2 HG01943.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02155.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02717.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03516.hp2 HG03654.hp2 HG03704.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18969.hp2 NA18990.hp2 NA18994.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19090.hp2 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0010 a0001c0001 a0002c0002 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0006c0010t0001	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 others(46): Show a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0003g0075 a0001c0001t0003g0183 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0005g0207 a0001c0001t0005g0212 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0009g0069 a0001c0001t0009g0071 a0001c0001t0011g0141 a0001c0001t0015g0110 a0001c0001t0016g0149 a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0040 a0002c0002t0001g0054 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0005g0024 a0006c0010t0001g0197	49	238	0.2059	305	c.45 others(316): Show c.4561_*4562insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCGAGTTAATTTTT	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding		2180		chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129573951	C C	CAAAAATT others(298): Show CAAAAATTAACTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0037 a0002c0002t0003g0037	1	238	0.0042	305	c.45 others(316): Show c.4561_*4562insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCGAGTTAATTTTT	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding		2180		chr6	TogoVar

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