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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Select column to sort.

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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
ABCA13_chr7_48166458_48652497	48194103	A A	ATGAGATA others(507): Show ATGAGATAATAGTGATGATGGTGATGATGATGATGGTGCTGATGATAGTG ATGATGGTGATGATGATGATGGTGCTGTTGATAGTGATGATGGTGATGAT GATGATGGAGATGATAGTGATGATGGCAATGATATGATAGTGGAGATGAT AAGAGTAATGATAGTGATGATGATGATATTGATGTTGATGATAATGAAGA TTATAGTAATGATAATGGAGAAGATGGAGATAATAGTGATGATGGTGATG ATGATGATGGAGGTGATGATAGGGATGATGGTGATGATGATGAAGATGAT TATAGTGATAAGTGTAATTATGATGGCGATAGTAATGGTGGTGATGATGA TGATGGAGATGATGGTTATGATGATGATGGAGACAATAGTGATGATAATA ATGGAGATGATGATAGTGATGATGATGATGATGGAGATGATGGAGATGAT AATGATGATGATGATGGAGATGATAGTGATGATGGTGATGATAATGGAGA TGATAGTAACTATGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp1 HG00738.hp2 others(59): Show HG00408.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01433.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03834.hp1 HG06807.hp2 NA18942.hp1 NA18956.hp2 NA18991.hp2 NA18994.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(34): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0013 a0014 a0015 a0021 a0022 a0024 a0025 a0028 a0029 a0034 a0035 a0043 a0045 a0046 a0047 a0048 a0050 a0054 a0058 a0060 a0061 a0062 a0073 a0074 a0075 a0079 a0081 a0082 a0084 a0087	a0001c0001 a0002c0002 a0002c0022 others(41): Show a0001c0001 a0002c0002 a0002c0022 a0003c0003 a0003c0004 a0004c0008 a0004c0009 a0004c0079 a0005c0024 a0006c0063 a0007c0011 a0007c0102 a0013c0006 a0014c0047 a0015c0025 a0015c0076 a0021c0028 a0022c0020 a0024c0027 a0025c0085 a0025c0089 a0028c0015 a0029c0014 a0034c0105 a0035c0106 a0043c0093 a0045c0056 a0046c0057 a0047c0040 a0048c0041 a0050c0054 a0054c0048 a0058c0035 a0060c0070 a0061c0074 a0062c0075 a0073c0078 a0074c0080 a0075c0081 a0079c0087 a0081c0086 a0082c0088 a0084c0061 a0087c0039	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(47): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0002c0022t0004 a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0004c0008t0001 a0004c0008t0004 a0004c0008t0005 a0004c0009t0002 a0004c0079t0006 a0005c0024t0001 a0006c0063t0001 a0007c0011t0007 a0007c0102t0001 a0013c0006t0001 a0014c0047t0001 a0015c0025t0003 a0015c0076t0001 a0021c0028t0003 a0022c0020t0001 a0024c0027t0001 a0024c0027t0006 a0025c0085t0004 a0025c0089t0012 a0028c0015t0004 a0029c0014t0010 a0034c0105t0005 a0035c0106t0005 a0043c0093t0002 a0045c0056t0002 a0046c0057t0001 a0047c0040t0001 a0048c0041t0004 a0050c0054t0002 a0054c0048t0004 a0058c0035t0002 a0060c0070t0003 a0061c0074t0001 a0062c0075t0005 a0073c0078t0003 a0074c0080t0013 a0075c0081t0001 a0079c0087t0002 a0081c0086t0009 a0082c0088t0005 a0084c0061t0004 a0087c0039t0001	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0004g0164 others(59): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0004g0164 a0002c0002t0002g0156 a0002c0002t0002g0168 a0002c0022t0004g0163 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0001g0033 a0003c0004t0002g0032 a0003c0004t0002g0035 a0003c0004t0004g0030 a0004c0008t0001g0149 a0004c0008t0004g0167 a0004c0008t0005g0169 a0004c0009t0002g0151 a0004c0009t0002g0166 a0004c0079t0006g0147 a0005c0024t0001g0018 a0006c0063t0001g0010 a0007c0011t0007g0165 a0007c0102t0001g0020 a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0014c0047t0001g0155 a0015c0025t0003g0024 a0015c0025t0003g0025 a0015c0076t0001g0021 a0021c0028t0003g0005 a0021c0028t0003g0011 a0022c0020t0001g0007 a0024c0027t0001g0161 a0024c0027t0006g0162 a0025c0085t0004g0008 a0025c0089t0012g0154 a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0010g0174 a0034c0105t0005g0037 a0035c0106t0005g0006 a0043c0093t0002g0150 a0045c0056t0002g0019 a0046c0057t0001g0001 a0047c0040t0001g0009 a0048c0041t0004g0039 a0050c0054t0002g0015 a0054c0048t0004g0159 a0058c0035t0002g0157 a0060c0070t0003g0014 a0061c0074t0001g0022 a0062c0075t0005g0023 a0073c0078t0003g0170 a0074c0080t0013g0158 a0075c0081t0001g0148 a0079c0087t0002g0153 a0081c0086t0009g0160 a0082c0088t0005g0152 a0084c0061t0004g0013 a0087c0039t0001g0003	62	178	0.3483	514	c.163 others(531): Show c.163+1054_163+1055insGATAATAGTGATGATGGTGATGATGATG ATGGTGCTGATGATAGTGATGATGGTGATGATGATGATGGTGCTGTTGAT AGTGATGATGGTGATGATGATGATGGAGATGATAGTGATGATGGCAATGA TATGATAGTGGAGATGATAAGAGTAATGATAGTGATGATGATGATATTGA TGTTGATGATAATGAAGATTATAGTAATGATAATGGAGAAGATGGAGATA ATAGTGATGATGGTGATGATGATGATGGAGGTGATGATAGGGATGATGGT GATGATGATGAAGATGATTATAGTGATAAGTGTAATTATGATGGCGATAG TAATGGTGGTGATGATGATGATGGAGATGATGGTTATGATGATGATGGAG ACAATAGTGATGATAATAATGGAGATGATGATAGTGATGATGATGATGAT GGAGATGATGGAGATGATAATGATGATGATGATGGAGATGATAGTGATGA TGGTGATGATAATGGAGATGATAGTAACTATGGTGA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	2/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48194103	A A	ATGAGATA others(507): Show ATGAGATAATAGTGATGATGGTGATGATGATGATGGTGCTGATGATAGTG ATGATGGTGATGATGATGATGGTGCTGTTGATAGTGATGATGGTGTTGAT GATGATGGAGATGATAGTGATGATGGCAATGATATGATAGTGGAGATGAT AAGAGTAATGATAGTGATGATGATGATATTGATGTTGATGATAATGAAGA TTATAGTAATGATAATGGAGAAGATGGAGATAATAGTGATGATGGTGATG ATGATGATGGAGGTGATGATAGGGATGATGGTGATGATGATGAAGATGAT TATAGTGATAAGTGTAATTATGATGGCGATAGTAATGGTGGTGATGATGA TGATGGAGATGATGGTTATGATGATGATGGAGACAATAGTGATGATAATA ATGGAGATGATGATAGTGATGATGATGATGATGGAGATGATGGAGATGAT AATGATGATGATGATGGAGATGATAGTGATGATGGTGATGATAATGGAGA TGATAGTAACTATGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00738.hp1 others(47): Show HG00544.hp2 HG00558.hp1 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02071.hp1 HG02132.hp2 HG02145.hp1 HG02523.hp1 HG02630.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp2 HG04204.hp1 HG06807.hp1 NA18944.hp1 NA18953.hp2 NA18956.hp1 NA18959.hp2 NA18961.hp1 NA18971.hp2 NA18977.hp1 NA18986.hp1 NA18987.hp2 NA18992.hp2 NA18998.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19074.hp1 NA19083.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0007 a0008 others(22): Show a0001 a0007 a0008 a0009 a0010 a0011 a0012 a0016 a0017 a0018 a0019 a0026 a0027 a0030 a0032 a0033 a0036 a0037 a0053 a0055 a0057 a0064 a0067 a0078 a0083	a0001c0001 a0001c0010 a0001c0103 others(28): Show a0001c0001 a0001c0010 a0001c0103 a0001c0104 a0007c0011 a0008c0013 a0008c0032 a0009c0012 a0010c0033 a0011c0017 a0012c0045 a0016c0094 a0016c0095 a0017c0096 a0017c0097 a0018c0029 a0019c0030 a0026c0026 a0027c0021 a0030c0042 a0032c0114 a0033c0099 a0036c0098 a0037c0100 a0053c0051 a0055c0049 a0057c0036 a0064c0073 a0067c0068 a0078c0084 a0083c0077	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0010t0001 a0001c0010t0002 a0001c0103t0006 a0001c0104t0005 a0007c0011t0003 a0008c0013t0005 a0008c0032t0001 a0008c0032t0002 a0009c0012t0002 a0010c0033t0003 a0011c0017t0002 a0011c0017t0003 a0012c0045t0002 a0016c0094t0002 a0016c0095t0002 a0017c0096t0001 a0017c0097t0001 a0018c0029t0004 a0019c0030t0003 a0026c0026t0001 a0027c0021t0008 a0030c0042t0004 a0032c0114t0004 a0033c0099t0002 a0036c0098t0001 a0037c0100t0001 a0053c0051t0001 a0055c0049t0001 a0057c0036t0007 a0064c0073t0005 a0067c0068t0002 a0078c0084t0002 a0083c0077t0003	a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0058 others(47): Show a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0177 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0085 a0001c0001t0004g0057 a0001c0010t0001g0050 a0001c0010t0001g0066 a0001c0010t0002g0074 a0001c0103t0006g0059 a0001c0104t0005g0044 a0007c0011t0003g0051 a0008c0013t0005g0045 a0008c0032t0001g0079 a0008c0032t0002g0055 a0009c0012t0002g0052 a0009c0012t0002g0072 a0010c0033t0003g0060 a0010c0033t0003g0071 a0011c0017t0002g0048 a0011c0017t0003g0067 a0012c0045t0002g0075 a0016c0094t0002g0078 a0016c0095t0002g0043 a0017c0096t0001g0049 a0017c0097t0001g0084 a0018c0029t0004g0070 a0019c0030t0003g0038 a0019c0030t0003g0068 a0026c0026t0001g0053 a0026c0026t0001g0080 a0027c0021t0008g0056 a0027c0021t0008g0077 a0030c0042t0004g0073 a0032c0114t0004g0082 a0033c0099t0002g0062 a0036c0098t0001g0069 a0037c0100t0001g0041 a0053c0051t0001g0026 a0055c0049t0001g0086 a0057c0036t0007g0083 a0064c0073t0005g0047 a0067c0068t0002g0061 a0078c0084t0002g0076 a0083c0077t0003g0046	50	178	0.2809	514	c.163 others(531): Show c.163+1054_163+1055insGATAATAGTGATGATGGTGATGATGATG ATGGTGCTGATGATAGTGATGATGGTGATGATGATGATGGTGCTGTTGAT AGTGATGATGGTGTTGATGATGATGGAGATGATAGTGATGATGGCAATGA TATGATAGTGGAGATGATAAGAGTAATGATAGTGATGATGATGATATTGA TGTTGATGATAATGAAGATTATAGTAATGATAATGGAGAAGATGGAGATA ATAGTGATGATGGTGATGATGATGATGGAGGTGATGATAGGGATGATGGT GATGATGATGAAGATGATTATAGTGATAAGTGTAATTATGATGGCGATAG TAATGGTGGTGATGATGATGATGGAGATGATGGTTATGATGATGATGGAG ACAATAGTGATGATAATAATGGAGATGATGATAGTGATGATGATGATGAT GGAGATGATGGAGATGATAATGATGATGATGATGGAGATGATAGTGATGA TGGTGATGATAATGGAGATGATAGTAACTATGGTGA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	2/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(507): Show ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATAT AAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTAT ATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATAT TTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTAT ATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTT ATATTTATAAATATATAAATATTTTTATATTTATAAATATATCAATATTT TTATATTTATAAATATATAAATATTTTTATATTTATAGATAAATATATCA ATATATAAATATTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0008 a0001c0039t0008	a0001c0039t0008g0301 a0001c0039t0008g0301	1	306	0.0033	514	c.130 others(533): Show c.1308+1271_1308+1272insAAAATATTTATATATTGATATATTTA TCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTGATA TATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTA TATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATT TATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATT TATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATA TATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATA AATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATA TTTATCTATAAATATAAAAATATTTATATATTTATCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(507): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTCATCCATCCACCCATCCACTCATCCATTCACCTATCCACCCA CCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	262	0.0038	514	c.775 others(529): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAAT GGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGG ATGGATGAGTGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAAT GGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGG ATGGATGAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGATGAAT GGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGA ATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGT GGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGGTGAA TGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTG GATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADSS1_chr14_104719229_104752310	104720513	C C	CCTCGTGT others(507): Show CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGC GTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGG ATGCTGCTGTGGACGTCTGCGTCATCTCGTGTGGATGCTGCTGTGGACGT CTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCTCGTG TGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGG ACGTCTGCGTCGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCT CGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCT GTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTC GTCCTCCTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATG CTGCTGTGGACGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	402	0.0025	514	c.-37 others(525): Show c.-3758_-3757insCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGC GTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCATCTCGTGTGGA TGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGT CTGCGTCGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTG TGGATGCTGCTGTGGACGTCTGCGTCGTCTCGTGTGGATGCTGCTGTGGA CGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCT CGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCT GTGGACGTCTGCGTCGTCCTCCTGTGGATGCTGCTGTGGACGTCTGCGTC GTCCTCGTGTGGATGCTGCTGTGGACGTCT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3715		chr14	TogoVar
AFDN_chr6_167821911_167977023	167941283	G G	GTGTGGAC others(507): Show GTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCACA GGAGACATGTGGACAGACACAGAGGGATGTAGGTGTGAGGGTGGAAACCA TCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGT GGAAGCCATCCACAGGAGACGTGTGGACAGACACAGAGGGATGTAGGGGT GAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGAT GTAGGGGTGAGGGTGGAAGCCATCCACAGGAGACATGTGGACAGACACAG AGGGATGTAGGTGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGAC AGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGACGT GTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGG AGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCA TCCACAGGAGACATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	326	0.0031	514	c.310 others(533): Show c.3100-1844_3100-1843insTGGACAGACACAGAGGGATGTAGGGG TGAGGGTGGAAGCCATCCACAGGAGACATGTGGACAGACACAGAGGGATG TAGGTGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACA GAGGGATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGACGTGTGGACA GACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATG TGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCACAG GAGACATGTGGACAGACACAGAGGGATGTAGGTGTGAGGGTGGAAACCAT CCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTG GAAGCCATCCACAGGAGACGTGTGGACAGACACAGAGGGATGTAGGGGTG AGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATG TAGGGGTGAGGGTGGAAGCCATCCACAGGAGACATATG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(507): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATACTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTATATACAGAATATATATACTATATATATTCTGTA TACAGAATATATATACTATATATATTCTGTATACAGAATATATATACTAT ATATATTCTATATATAGAATATATATAGTATATATATTCTATATACAGAA TATATATATAGTATATATATTCTGTATACAGAATATATATAGTATATATA TTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATATAT ATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	236	0.0042	514	c.409 others(533): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTGTATACAGAATATATATACTATATATATATTCTGTATATA GAATATATATACTATATATATTCTATATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATAGTATATATATTCTGTATACAGAATATA TATAGTATATATATTCTGTATATAGAATATATATACTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATATATAT TCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATA TACTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
ANXA2_chr15_60342151_60402986	60367559	A A	AGGCGGGG others(507): Show AGGCGGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGACGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCGGTCCGGGAGGGAGGCGGGGGGGGGGGGGGTCGGCCAGCCGCCCCG TCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	334	0.0030	514	c.149 others(531): Show c.149-3037_149-3036insCACCTCCCTCCCGGACGGGGCGGCTGGC CGACCCCCCCCCCCCCCGCCTCCCTCCCGGACCGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTTCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTCCCCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCGT CCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGACCCCCCCCCCCCCCCGCC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
APBA2_chr15_28880974_29123315	28915128	A A	ACCCATAT others(507): Show ACCCATATAGACCACACACACATCACACACACACTATACCCACCTCACAC ACACCACACACATCATACCCACCTCACACACACCACATACCCTATACACA CCACACACCATACACATACCGCATACACACCACACACCACACACATACCC CATATATACCACACACCACACACATACCCCATACACACCACACACCACAC ATACCCCATGTATACCACACACCACACACATACCCCATACACACCACACA CCACACATACCCCATACACACCACACACCACACATACCCCATATATACCA CACACCACACACACACCCCATATATACCACACACCACAAACATAGCCCAT ACACAACACACAACACACATACCCCATATATACCACACACCACACACATA CCCCATACACACCACACACCACACATACCCCATATATACCACACACCACA CACATACCCCATACATACCACACACCACACACATACCCCATACACACCAC ACACCACACACATAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01257.hp2 HG02572.hp2 others(8): Show HG01255.hp1 HG01257.hp2 HG02572.hp2 HG02615.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0002c0004 a0002c0014	a0001c0001t0004 a0001c0001t0029 a0001c0009t0014 others(7): Show a0001c0001t0004 a0001c0001t0029 a0001c0009t0014 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0004t0004 a0002c0004t0009 a0002c0014t0035	a0001c0001t0004g0045 a0001c0001t0029g0046 a0001c0009t0014g0070 others(8): Show a0001c0001t0004g0045 a0001c0001t0029g0046 a0001c0009t0014g0070 a0002c0002t0005g0026 a0002c0002t0006g0185 a0002c0002t0007g0115 a0002c0002t0011g0123 a0002c0004t0004g0069 a0002c0004t0009g0106 a0002c0004t0009g0121 a0002c0014t0035g0191	11	204	0.0539	514	c.-20 others(533): Show c.-204-6504_-204-6503insGACCACACACACATCACACACACACT ATACCCACCTCACACACACCACACACATCATACCCACCTCACACACACCA CATACCCTATACACACCACACACCATACACATACCGCATACACACCACAC ACCACACACATACCCCATATATACCACACACCACACACATACCCCATACA CACCACACACCACACATACCCCATGTATACCACACACCACACACATACCC CATACACACCACACACCACACATACCCCATACACACCACACACCACACAT ACCCCATATATACCACACACCACACACACACCCCATATATACCACACACC ACAAACATAGCCCATACACAACACACAACACACATACCCCATATATACCA CACACCACACACATACCCCATACACACCACACACCACACATACCCCATAT ATACCACACACCACACACATACCCCATACATACCACACACCACACACATA CCCCATACACACCACACACCACACACATACCCCATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28915128	A A	ACCCATAT others(507): Show ACCCATATAGACCACACACACATCACACACACACTATACCCACCTCACAC ACACCACACACATCATACCCACCTCACACACACCACATACCCTATACACA CCACACACCATACACATACCGCATACACACCACACACCACACACATACCC CATATATACCACACACCACACACATACCCCATACACACCACACACCACAC ATACCCCATGTATACCACACACCACACACATACCCCATACACACCACACA CCACACATACCCCATACACACCACACACCACACATACCCCATATATACCA CACACCACACACACACCCCATATATACCACACACCACAAACATAGCCCAT ACACACCACACACCACACATACCCCATATATACCACACACCACACACATA CCCCATACACACCACACACCACACATACCCCATATATACCACACACCACA CACATACCCCATACATACCACACACCACACACATACCCCATACACACCAC ACACCACACACATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02572.hp1 others(4): Show HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02717.hp1 HG02895.hp1 HG03453.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0006 a0002c0002t0008 others(2): Show a0001c0001t0008 a0002c0002t0006 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012	a0001c0001t0008g0194 a0002c0002t0006g0124 a0002c0002t0006g0178 others(4): Show a0001c0001t0008g0194 a0002c0002t0006g0124 a0002c0002t0006g0178 a0002c0002t0008g0192 a0002c0002t0008g0198 a0002c0002t0011g0171 a0002c0002t0012g0187	7	204	0.0343	514	c.-20 others(533): Show c.-204-6504_-204-6503insGACCACACACACATCACACACACACT ATACCCACCTCACACACACCACACACATCATACCCACCTCACACACACCA CATACCCTATACACACCACACACCATACACATACCGCATACACACCACAC ACCACACACATACCCCATATATACCACACACCACACACATACCCCATACA CACCACACACCACACATACCCCATGTATACCACACACCACACACATACCC CATACACACCACACACCACACATACCCCATACACACCACACACCACACAT ACCCCATATATACCACACACCACACACACACCCCATATATACCACACACC ACAAACATAGCCCATACACACCACACACCACACATACCCCATATATACCA CACACCACACACATACCCCATACACACCACACACCACACATACCCCATAT ATACCACACACCACACACATACCCCATACATACCACACACCACACACATA CCCCATACACACCACACACCACACACATACCCCATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARID2_chr12_45724706_45913037	45843286	T T	TTTAGCTA others(507): Show TTTAGCTATTGCCTGCATAGTTTAATGCTGCTTTTTTTGGAATTACCATC TTTAAACTTTTTGCTCACTTCCCTCAATCCCTCTGAAAACTTTTATAACC TTTTACCCATTTTTAGGTTAACATCTAAATCTCTATCATAATTTAAATAG TTGCAAAGTATGTATTGTCTTGATGTATATTAAACTACATTTTTAAAAGA AAATAATTACAGTGCTTTTTGTATGCAGTGGAATCTTGATACCATCATTC ATTTTTTAAAATACACAAACTCTTTAACATCAGAAATTTTATAATATTCC TCTTTCACCTTGAACTTGTATTCCAGTATCCTCACAAGAGTTTTATCCTA ATATAATACATTTTATGTTTGAGATTCTTTTTTATTCATCACCCTGTCAA TACTTTTTAGTTACAAAATAGACATTTTTAAAGTTTTTCAATTCCTTGTT ATTCTTTAAAGCTCTAAATTTTAAAAATTTCATTTGGCCAGGCACTGTGG CTTACACCTATAATC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp2 HG02886.hp1 others(2): Show HG02451.hp1 HG02647.hp2 HG02886.hp1 HG02965.hp1 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0018 a0003c0004t0006 a0003c0004t0018	a0003c0004t0006g0105 a0003c0004t0006g0106 a0003c0004t0006g0107 others(2): Show a0003c0004t0006g0105 a0003c0004t0006g0106 a0003c0004t0006g0107 a0003c0004t0006g0108 a0003c0004t0018g0205	5	318	0.0157	514	c.149 others(533): Show c.1499-3570_1499-3569insTTAGCTATTGCCTGCATAGTTTAATG CTGCTTTTTTTGGAATTACCATCTTTAAACTTTTTGCTCACTTCCCTCAA TCCCTCTGAAAACTTTTATAACCTTTTACCCATTTTTAGGTTAACATCTA AATCTCTATCATAATTTAAATAGTTGCAAAGTATGTATTGTCTTGATGTA TATTAAACTACATTTTTAAAAGAAAATAATTACAGTGCTTTTTGTATGCA GTGGAATCTTGATACCATCATTCATTTTTTAAAATACACAAACTCTTTAA CATCAGAAATTTTATAATATTCCTCTTTCACCTTGAACTTGTATTCCAGT ATCCTCACAAGAGTTTTATCCTAATATAATACATTTTATGTTTGAGATTC TTTTTTATTCATCACCCTGTCAATACTTTTTAGTTACAAAATAGACATTT TTAAAGTTTTTCAATTCCTTGTTATTCTTTAAAGCTCTAAATTTTAAAAA TTTCATTTGGCCAGGCACTGTGGCTTACACCTATAATC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	11/20			chr12	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(507): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATAC GTATATACTATATATGTTGTATATACGTATATACAACATAAATATATGTT GTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAA CATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGTAT ATACGTATATACATATATAAATATATGTTGTATATACGTATATACATATA TAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGTATAT ACGTATATGCAACATAAATATATGTTGTATATACGTATATACAACATAAA TATATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGT ATATACAACATAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 NA19030.hp2 HG02922.hp1 HG03098.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0126 a0001c0001t0002g0174 a0001c0001t0002g0107 a0001c0001t0002g0126 a0001c0001t0002g0174	3	236	0.0127	514	c.676 others(531): Show c.676-4666_676-4665insATTTATGTTGTATATACGTATATACAAC ATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATA TACGTATATACAACATATATTTATGTTGCATATACGTATATACAACATAT ATTTATGTTGTATATACGTATATACAACATATATTTATATATGTATATAC GTATATACAACATATATTTATATATGTATATACGTATATACAACATATAT TTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTA TATACAACATATATTTATGTTGTATATACGTATATACAACATATATTTAT GTTGTATATACGTATATACAACATATATAGTATATACGTATATACAACAT ATATTTATATATGTATATACGTATATACAACATATATTTATATATGTATA TACGTATATACAACATATATTTATATATGTATATACGTATATACAACATA TATTTATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(507): Show GACCCCTGATGGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAA CCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCC CCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCACCGCTGGTCCCA GCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCC CTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCAC CCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTC CCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTCC ACTCCCCCCACCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCC CTTTCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCAC CCCTGGTCCCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA20752.hp1 HG00099.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0193 a0002c0003t0002g0192 a0001c0001t0001g0193 a0002c0003t0002g0192	2	254	0.0079	514	c.39+ others(531): Show c.39+23601_39+23602insGGCCGTGCCTCCTTTCCACTCCCCCAAC CCCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCA CCGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTG GCCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTC CACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCT GGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCC AGCCTCCCTTCCACTCCCCCCACCCTCCCTTCCACTCCCCCCACCCCTGA TCCCACACCTCCCTTTCACTCCCCCCACCCCTGATGCCATGCCTCCCTTC CACTCTCCCCACCCCTGGTCCCAGCCTCCCTTCCACTCCCCCAACCCCTG ATCCCACACCTCCCTTCCACTCCCCCTACCCCTGAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79358312	G G	GTGCCCTG others(507): Show GTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGT CCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTG GGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAG GGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGAT GCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTG TCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTG TGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGG TCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTG GAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGG ACGCTGTGTGAGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02135.hp1 NA18747.hp1 others(4): Show HG02071.hp1 HG02135.hp1 NA18747.hp1 NA18944.hp1 NA18951.hp1 NA18998.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0001 a0001c0001t0001 a0001c0026t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0026t0001g0038	7	298	0.0235	514	c.290 others(533): Show c.2904-1011_2904-1010insACCCTGTGTGAGGGGTGTCCTGGGTC TGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGA GGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGAC CCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCC TGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGG TCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTG AGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGG GTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGG TGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTC TGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACGCTGTG TGAGGGATGCCCTGGGTCTGGAGGTGTCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358312	G G	GTGCCCTG others(507): Show GTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGT CCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGATGCTCTG GGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAG GGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGT GCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTG TCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTG TGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGG TCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTG GAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGG ACGCTGTGTGAGGGA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	298	0.0034	514	c.290 others(533): Show c.2904-1011_2904-1010insACCCTGTGTGAGGGGTGTCCTGGGTC TGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGA GGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGAC CCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCC TGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGG TCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTG AGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGG GTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGG TGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTC TGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACGCTGTG TGAGGGATGCCCTGGGTCTGGAGGTGTCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(507): Show AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAG GGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAG GGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG ACGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGA GGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGG AGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGCG GGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0112 a0002c0006t0001g0112	1	410	0.0024	514	c.465 others(529): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTC CCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145651	T T	TATATAAT others(507): Show TATATAATATAATTTATTATATTATATAATGATATATAATATAATTTATT ATATTATATAATGATATATAATATAATTTATTATATTATATAATGATATA TAATATAATTTATTATATTATATAATGATATATAATATAATTTATTATAT TATATAATGATATATAATATAATTTATTATATTATATAATGATATATAAT ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATTATATAATGATATATAATATAA TTTATTATATTATATAATGATATATAATATAATTTATTATATTATATAAT GATATATAATATAATTTATTATATTATATAATGATATATAATATAATTTA TTATATTATATAATATATAATATAATTTATTATATTATATAATGATATAT AATATAATTTATTATATTATATAATGATATATAATATAATTTATTATATT ATATAATGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0012 a0002c0007t0002g0012	1	398	0.0025	514	c.38 others(525): Show c.3888_*3889insTATATATCATTATATAATATAATAAATTATATTA TATATCATTATATAATATAATAAATTATATTATATATCATTATATAATAT AATAAATTATATTATATATTATATAATATAATAAATTATATTATATATCA TTATATAATATAATAAATTATATTATATATCATTATATAATATAATAAAT TATATTATATATCATTATATAATATAATAAATTATATTATATATCATTAT ATAATATAATAAATTATATTATATATCATTATATAATATAATAAATTATA TTATATATCATTATATAATATAATAAATTATATTATATATCATTATATAA TATAATAAATTATATTATATATCATTATATAATATAATAAATTATATTAT ATATCATTATATAATATAATAAATTATATTATATATCATTATATAATATA ATAAATTATATTATATATCATTATATAATATAATAAATTATATTATATAT CATTATATAATATAATAAATTATATTATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3354		chr22	TogoVar
C2CD4C_chr19_400445_414147	404474	T T	TGTGAGGG others(507): Show TGTGAGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGGGGGGGGGACAGG GTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGT GGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTCC TGCCCTCAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAGGGGTGTGGGG GAGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTCCTGCC CTGAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGA CGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGAACGGGGTCCTGCCCTGAG GGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGAA CGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGG GGTGTGGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGG GTCCTGCCTTGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0024 a0001c0002t0022g0024	1	322	0.0031	514	c.26 others(525): Show c.2621_*2622insCCCTCAAGGCAGGACCCCGTCCCCCCCACACCCC TCAGGGCAGGACCCCGTTCCCCCCCCACACCCCTCAGGGCAGGACCCCGT TCCCCCCCACACCCCTCAAGGCAGGACCCCGTTCCCCCCCCACACCCCTC AGGGCAGGACCCCGTTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTT CCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAA GGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCC CCACACCCCTCAGGGCAGGACCCCGTCCCTCCCCCACACCCCTCAAGGCA GGACCCCGTCCCCCCCACACCCCTGAGGGCAGGACCCCGTTCCCCCCCAC ACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGAC CCCGTTCCCCCCACACCCCTCAGGGCAGGACCCTGTCCCCCCCCCACACC CCTCGGGACAGGACCCCGTCCCCCCCTCAC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		970		chr19	TogoVar
C4orf50_chr4_5954375_6023431	6004539	G G	GTGATGAT others(507): Show GTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATATT GATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGAT GGTGATAGTTATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGG TGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGA TGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGT GATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGACGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGATGGTG ATGATGGTGATGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGAT GATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGA CGGTGATGGTGATGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA21309.hp2 NA19043.hp1 NA21309.hp2	a0056 a0058 a0056 a0058	a0056c0063 a0058c0061 a0056c0063 a0058c0061	a0056c0063t0000 a0058c0061t0000 a0056c0063t0000 a0058c0061t0000	a0056c0063t0000g0070 a0058c0061t0000g0060 a0056c0063t0000g0070 a0058c0061t0000g0060	2	346	0.0058	514	c.963 others(531): Show c.963+3456_963+3457insTCATCACCATCACCGTCATCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCA CTATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCACCATCACCATCATCACCATCACCATCATCACCATCACCGTCATCAT CACCATCACCATCATCACCATCACCATCATCACCATCACCATCATCACCA TCATCACTATCATCACCATCACCATCATCACCATCACCATCATCACCATC ATCACCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC TATCATCACCATCACATCATCACCATCACCATCATCACCATCATCACCAT CATCAACATCATCACCATCACCATCATAACTATCACCATCATCACCATCA TCACCATCACATCATCACCATCACCATCATCACCATCAATATCATCACCA TCATCACCATCACCATCATCACCATCACCATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCAGCG others(507): Show GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGA GTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGA GTAGACGGTCGGCGT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	338	0.0030	514	c.300 others(531): Show c.300-9106_300-9105insTCAGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGG GGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(507): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGA AGCTCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGG CTCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTG AAAGGCGAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGG GGGGAAGGCTCTGAGGGGGAAGGACATGAGGGAGAAGGATCTGAAAGGCG AAGGATCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAA GGCTCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATC TGAAAGGCGAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGA GGGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGG GCGAAGGATCTGAGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03490.hp1 HG01993.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0136 a0001c0001t0017g0137 a0001c0001t0001g0136 a0001c0001t0017g0137	2	250	0.0080	514	c.-21 others(531): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCC CGCTCAGATCCTTCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCCT CATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAGA GCCTTCCCCGCTCAGATCCTTCCCCCCTCAGATCCTTCGCCTTTCAGATC CTTCTCCCTCATGTCCTTCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTC CCCGCTCAGATCCTTCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCC CTCATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCA GAGCCTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCTTCCCCTTCAGAGC CTTCCCCCCTCAGAGCCTTCCCCCCTCAGATCCTTCGCCCCTCAGATCCT TCCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(507): Show ACACACACACATACAGACACAACCACACCACACACACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAT ACACACTCACATACAGACACAACCACACCACACACACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACACACACACACT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02572.hp1 HG02809.hp2 others(4): Show HG01934.hp1 HG02572.hp1 HG02809.hp2 HG03041.hp1 HG03195.hp1 HG03471.hp1 HG06807.hp1	a0003 a0005 a0018 a0003 a0005 a0018	a0003c0003 a0005c0006 a0018c0021 a0003c0003 a0005c0006 a0018c0021	a0003c0003t0002 a0005c0006t0002 a0005c0006t0003 others(1): Show a0003c0003t0002 a0005c0006t0002 a0005c0006t0003 a0018c0021t0002	a0003c0003t0002g0289 a0005c0006t0002g0288 a0005c0006t0002g0429 others(4): Show a0003c0003t0002g0289 a0005c0006t0002g0288 a0005c0006t0002g0429 a0005c0006t0002g0430 a0005c0006t0002g0431 a0005c0006t0003g0294 a0018c0021t0002g0372	7	460	0.0152	514	c.193 others(531): Show c.1938+733_1938+734insCACACATACAGACACAACCACACCACAC ACACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACACACACATACACACTCACATACAGACACAACCACACCACAC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACACACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(507): Show ACACACACACATACAGACACAACCACACCACACACACACACACACATACA CAGTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAT ACACACTCACATACAGACACAACCACACCACACACACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACACACACACACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0257 a0003c0003t0003g0257	1	460	0.0022	514	c.193 others(531): Show c.1938+733_1938+734insCACACATACAGACACAACCACACCACAC ACACACACACACATACACAGTCACATACAGACACAACCACACCACACTCA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACACACACATACACACTCACATACAGACACAACCACACCACAC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACACACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC57_chr17_82096470_82217842	82215648	T T	TTCCTTCC others(507): Show TTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCTCCCCCTCCT TCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTG CAGCACCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0225 a0002c0002t0001g0225	1	252	0.0040	514	c.-28 others(525): Show c.-2873_-2872insGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAG GAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAG GGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGTGCTGC AGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2807		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(507): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCGCTCC TTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0069 a0004c0007t0002g0069	1	252	0.0040	514	c.-29 others(525): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGCGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(507): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCCTCCCCCTTCCCACTCCCCC TTCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCC CACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCC CCTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCG TCTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCAC TCCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTC TCCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTC TCCCCACTCCGCACTCCCTCCCTCTCCCCCCCTCCCCACTCCCCACTCCC TCCCTCTTCCCCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	194	0.0052	514	c.75- others(531): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC CTCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCC CACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCC TTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCC CTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCT CCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCA CTCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCT CTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCC CCTCCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(507): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCC CACTTCCCCCTTCTTCCCCTTCCTACTTCCCCTCCCCCTTCCCACTCCCC CTTCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTC CCACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGC CCCTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACC GTCTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCA CTCCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCT CTCCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCT CTCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCCC TCCCTCTTCCCCCCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0040 a0001c0002t0014g0040	1	194	0.0052	514	c.75- others(531): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTTCC CCTCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTC CCACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCC CTTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTC CCTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCC TCCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCC ACTCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCC TCTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCC CCTCCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00597.hp1 others(35): Show HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01346.hp1 HG01952.hp1 HG01981.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02602.hp2 HG02735.hp2 HG03239.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 NA18939.hp1 NA18943.hp2 NA18956.hp1 NA18982.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA19012.hp2 NA19081.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0011 a0002c0001t0019 others(1): Show a0002c0001t0002 a0002c0001t0011 a0002c0001t0019 a0002c0001t0024	a0002c0001t0002g0002 a0002c0001t0002g0003 a0002c0001t0002g0004 others(12): Show a0002c0001t0002g0002 a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0016 a0002c0001t0002g0025 a0002c0001t0002g0027 a0002c0001t0002g0028 a0002c0001t0002g0035 a0002c0001t0002g0040 a0002c0001t0002g0050 a0002c0001t0002g0052 a0002c0001t0002g0054 a0002c0001t0011g0002 a0002c0001t0019g0002 a0002c0001t0024g0003	38	354	0.1073	514	c.69 others(525): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	354	0.0028	514	c.69 others(525): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0001 a0005c0008t0002g0001	1	354	0.0028	514	c.69 others(525): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCC TCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCC TCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTATC CCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTAC CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0003	1	354	0.0028	514	c.69 others(525): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCC ACCCTTCCCCCTTACCCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCC TCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02083.hp2 NA18612.hp1 others(3): Show HG00438.hp2 HG02083.hp2 NA18612.hp1 NA18979.hp1 NA19060.hp1 NA19066.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0030 a0002c0001t0002g0002 a0002c0001t0002g0030	6	354	0.0170	514	c.69 others(525): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCGTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	354	0.0028	514	c.69 others(525): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCGTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCTCCCTCCCCCTTCCTCCCTCC CCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTTCCTTCTTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	354	0.0028	514	c.69 others(525): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCTCCCTC CCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCCCCCTTTCCTTCTTCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(507): Show AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAA AATAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAA TAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAA TAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATAT ATAAAATATTTTATTTATTTATTTTAATATATAAAATATTTATTTTATTT ATTATTTTAATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	402	0.0025	514	c.80- others(529): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAA TATTTATTTTATTTATTATTTTAATATATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(507): Show AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAA AATAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAA TAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATAT ATAAAATATTTTATTTATTTATTTTAATATATAAAATATTTATTTTATTT ATTATTTTAATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	402	0.0025	514	c.80- others(529): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAA TATTTATTTTATTTATTATTTTAATATATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(507): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT ATGACTGTGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTAT GGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGG GTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTG TATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTG TATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG TGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTG TGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTG TGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0147 a0009c0012t0001g0147	1	336	0.0030	514	c.341 others(531): Show c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC CCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC CATACACACACTCCCATACACACACACCCACAGTCATACACACACCCCAT ACACTCCCATACACACACACTCTCCCATACACACACCCATACTCACACTC CCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACAC TCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(507): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT ATGGGTGTGTGTGTATGGGAGTGAGTGTATGGGTTGTGTATGGGAGTGTG TATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTG TATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG TGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTG TGTGTATGGGAGTGAGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTG TGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	336	0.0030	514	c.341 others(531): Show c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC CCATACACACACACCCATACTCTCACTCCCATACACACACTCACTCCCAT ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC ACAACCCATACACTCACTCCCATACACACACACCCATACACTCCCATACA CACACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATA CACACACTCCCATACACACACACCCATACACAGTCATACACACACCCCAT ACACTCCCATACACACACACTCTCCCATACACACACCCATACTCACACTC CCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACAC TCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(507): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG TGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTG TGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	336	0.0030	514	c.341 others(531): Show c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC CCATACACACACACCCATACTCACACTCCCATACACACACTCCCATACAC ACACACACCCATACTCACACTCCCATACACACACACTCACTCCCATACAC ACACACCCATACTCACACTCCCATACTCCCATACACACACCCATACTCAC ACTCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAA CCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACA CACACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATA CACACACTCCCATACACACACACCCATACACAGTCATACACACACCCCAT ACACTCCCATACACACACACTCTCCCATACACACACCCATACTCACACTC CCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACAC TCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
CPNE7_chr16_89570758_89602246	89588000	C C	CCCCCGTG others(507): Show CCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATA CACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGA TACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACA GATACACGGCCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACATGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGAAACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	348	0.0029	514	c.928 others(529): Show c.928-671_928-670insGTGTCACCCACAGATACACGGCCCCCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCC CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCC CCCGTGTCACCCACAGATACACGGCCCCCCCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGCCCCCCGT GTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAA CACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DLG2_chr11_83450173_85632344	84100254	G G	GAGATATA others(507): Show GAGATATATATATATCTAAAGAGATATATATATATCTAAAGAGATATATA TATCTAAAGATATATATATCTCTAAAGAGATATATATATCTAAAGATATA TATATCTCTAAAGATATATATATCTCTAAAGATATATATATCTCTAAAGA TATATATATATCTCTAAAGATATATATATCTCTAGAGATATATATATCTC TAAAGATATATATATCTCTAGAGATATATATATCTCTAAAGATATATATA TCTCTAGAGATATATATATCTCTAAAGATATATATATCTCTAGAGATATA TATATATCTCTAAAGATATATATATCTCTAGAGATATATATATATCTCTA AAGATATATATATCTCTAGAGATATATATATATCTCTAAAGATATATATA TCTCTAGAGATATATATATATCTAAAGATATATATATCTCTAGAGATATA TATATATCTAAAGATATATATATCTCTAAAGATATATATATATCTAAAGA TATATATATCTCTAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	14	0.0714	514	c.625 others(531): Show c.625-1208_625-1207insTTAGAGATATATATATCTTTAGATATAT ATATATCTTTAGAGATATATATATCTTTAGATATATATATATCTCTAGAG ATATATATATCTTTAGATATATATATATCTCTAGAGATATATATATCTTT AGAGATATATATATATCTCTAGAGATATATATATCTTTAGAGATATATAT ATATCTCTAGAGATATATATATCTTTAGAGATATATATATATCTCTAGAG ATATATATATCTTTAGAGATATATATATCTCTAGAGATATATATATCTTT AGAGATATATATATCTCTAGAGATATATATATCTTTAGAGATATATATAT CTCTAGAGATATATATATCTTTAGAGATATATATATATCTTTAGAGATAT ATATATCTTTAGAGATATATATATCTTTAGAGATATATATATCTTTAGAT ATATATATCTCTTTAGAGATATATATATCTTTAGATATATATATCTCTTT AGATATATATATATCTCTTTAGATATATATATATCT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	9/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	1561875	T T	TGGGGTGT others(507): Show TGGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGGTGTCC GCGCCTCATTGCTGGGGGACTGTGTGGTGTTCGGGTGTCCGCGCCTCGTT ACTGGGGGACTGTGTGGAGTTCGGGTGTCCGCGCCTCGTTGCTGCGGGAC TGTGTGTTGTTGGGGTGTCGGCGCCTCGTTACTGGGGGACTGTGTGGTGT TGGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGTGTCCG TGCCTCGTTGCTGGTGGACTGTGTGGTGTTGGGTGTCCGCGCCTCGTTGC TGGGGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCATTGCTGGGGGACTG TGTGGTGTTGGGGTGTCCGCGCCTCGTTACTGGGGGGCTGTGTGGTGTTG GGGTGTCTGCGCCTCGTTACTGGGGGACTGGTGTTGGAGTGTCTGTGCCT CGTTACTGGGGGACTGTGTGGTGTTGGAGTGTCGCGCCTCGTTGCTGGGG GACTGTGTGGTGTTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	514	c.123 others(533): Show c.1231-3805_1231-3804insGTGTCCGCGCCTCGTTACTGGGGGAC TGTGTGGTGTTGGGGTGTCCGCGCCTCATTGCTGGGGGACTGTGTGGTGT TCGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGTGGAGTTCGGGTGTCC GCGCCTCGTTGCTGCGGGACTGTGTGTTGTTGGGGTGTCGGCGCCTCGTT ACTGGGGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTACTGGGGGAC TGTGTGGTGTTGGGTGTCCGTGCCTCGTTGCTGGTGGACTGTGTGGTGTT GGGTGTCCGCGCCTCGTTGCTGGGGGACTGTGTGGTGTTGGGGTGTCCGC GCCTCATTGCTGGGGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTAC TGGGGGGCTGTGTGGTGTTGGGGTGTCTGCGCCTCGTTACTGGGGGACTG GTGTTGGAGTGTCTGTGCCTCGTTACTGGGGGACTGTGTGGTGTTGGAGT GTCGCGCCTCGTTGCTGGGGGACTGTGTGGTGTTGGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(507): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGA AGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAG GAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAACGAGGGAA GGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGGAAGGAGGGAAGGAG GGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA GGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGA GGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0286 a0009c0010t0001g0286	1	290	0.0035	514	c.757 others(531): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCC TCCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCCTTCCCTCCTTCCCTCCT TCCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCGTTCCC TCCTTCCTCTTCCTTCCCTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCC TTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCC TCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCCTCCCTCCCTCCCCTCC TTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCC CTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTC CTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTC CCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(507): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGCCGGGGGGTCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGG CAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGG AGGCAAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCC CCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCAT CCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 NA20129.hp2 others(1): Show HG03098.hp1 HG03130.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 others(1): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161	4	322	0.0124	514	c.976 others(529): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CTGACCCCCCGGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(507): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGCCGGGGGGTCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGG CAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGG AGGCAAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCC CCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCAT CCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	322	0.0031	514	c.976 others(529): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGACCCCCCGGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EXOC2_chr6_480154_698139	601802	G G	GTGCGAAT others(507): Show GTGCGAATCCACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCAC ACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTC ACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAA CACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGT GCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCAC ATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACAC CAAGAACACCCCGTCTGCGAATCCACACACATTCTCACACCAAGAACACC CCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGA ATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACAC ATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCACAC CAAGAACACCCCGTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20129.hp2 HG02258.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0019 a0004c0014t0003 a0001c0001t0019 a0004c0014t0003	a0001c0001t0019g0090 a0004c0014t0003g0218 a0001c0001t0019g0090 a0004c0014t0003g0218	2	272	0.0074	514	c.743 others(531): Show c.743-2578_743-2577insGACGGGGTGTTCTTGGTGTGAGAATGTG TGTGGATTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCG CACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGT GTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTG TGAGAATGTGTGTGGATTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTG TGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTC TTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAG AATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTG GATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGGATTCGCA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(507): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATATAA AAATATATAAATATATATTATATATAAATATATAATATATAAATATATAT AAATATATAAATATATATAAATATATACAATATATAAATATATATAAATA TATACAATATATAAATATATATATACAATATATAAATATATATAAATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATAAA TATATACAATATATAAATATATATAAATATATATAATATATAAATATATA TAAATATATAAATATATATAAATATATATAATATATAAATATATAAAAAT ATATAAATATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	344	0.0029	514	c.617 others(531): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATATTTATATATATTTATATATTTATATATTTTTATATATTTATATA TTTTTATATATTTATATTTATATATTTATATATTTATATATTTATATATT ATATATTTATATTTATATATGTATATATTTTTATATATTTTTATTTATAT ATTTATATATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FMR1NB_chrX_147976337_148031665	147992424	A A	ACCCCTCA others(507): Show ACCCCTCACCTCCCGGACGGGGGCGGCTGGACGGGGCGGGGGGCGCTGAC CCCACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGCGGGGGGCTGA CACCCCCACCTCCCTCCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCCTCCCTCC CGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGGCTGGCCGGGCGAGGGGGCTGACCCCCCCACCTCCCTCCC CGGACGGGGCGGCTGGCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	275	0.0036	514	c.277 others(533): Show c.277+10758_277+10759insGGACGGGGGCGGCTGGACGGGGCGGG GGGCGCTGACCCCACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGC GGGGGGCTGACACCCCCACCTCCCTCCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCA CCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCGGGCTGGCCGGGCGAGGGGGCTGACCCCCCCA CCTCCCTCCCCGGACGGGGCGGCTGGCTGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(507): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATATA TAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTATA TATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATATA AATCTATATATATAAATATAGATTTATATATATTTATATATAAATAACTA TAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGATT TATATATATTTATATATAAATAACTATATAGATTTATATATATTTATATA TAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATT TATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0071 a0001c0001t0008g0071	1	208	0.0048	514	c.-97 others(531): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATAAA TATATATAAATATATATAAATATATATTTATATTTATTTATAAATATATA TTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTATT TATATATAAATATATAAATCTATATATATAAATATAGATTTATATATATT TATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAATA ACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGATT TATATATATTTATATATAAATAACTATATAGATTTATATATATTTATATA TAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HBQ1_chr16_175459_186179	186170	G G	GGAGGAAC others(507): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	514	c.50 others(525): Show c.5062_*5063insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4992		chr16	TogoVar

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Search Results (Total: 10000 hits)