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
CECR2_chr22_17364460_17563151	17524538	G G	GCCCACCA others(650): Show GCCCACCACCACACCCAGCTAATTTTTTGTATTGTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCC GGCCACTTTTTTTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTC TTTAGATGTTTTCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAA ATCATGTGATAACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTA CCTTTTAAATAAGTGTATTGAATATTTTTAATTTTTCAATACAACAGCAT AGCATATGGATTTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTC AGTAAATTTTGGCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATT AAGTAACAGAAAGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAG ATCTTTTTTTTTTTTTCTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGT CGCCCAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGC ATCCCGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG01081.hp2 others(11): Show HG00642.hp2 HG00673.hp1 HG01081.hp2 HG01257.hp2 HG01361.hp1 HG02602.hp1 HG02818.hp1 NA18968.hp2 NA18969.hp1 NA18982.hp1 NA19000.hp2 NA19060.hp2 NA19074.hp1 NA20752.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0009	a0001c0001 a0003c0003 a0003c0025 others(2): Show a0001c0001 a0003c0003 a0003c0025 a0007c0011 a0009c0026	a0001c0001t0003 a0001c0001t0071 a0003c0003t0001 others(5): Show a0001c0001t0003 a0001c0001t0071 a0003c0003t0001 a0003c0003t0007 a0003c0003t0062 a0003c0025t0007 a0007c0011t0007 a0009c0026t0013	a0001c0001t0003g0059 a0001c0001t0003g0176 a0001c0001t0071g0129 others(11): Show a0001c0001t0003g0059 a0001c0001t0003g0176 a0001c0001t0071g0129 a0003c0003t0001g0142 a0003c0003t0001g0214 a0003c0003t0001g0251 a0003c0003t0007g0073 a0003c0003t0007g0183 a0003c0003t0007g0209 a0003c0003t0007g0212 a0003c0003t0062g0220 a0003c0025t0007g0088 a0007c0011t0007g0143 a0009c0026t0013g0072	14	324	0.0432	657	c.110 others(674): Show c.1108+278_1108+279insACCCAGCTAATTTTTTGTATTGTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTAGAACTCCTGACCTT GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCACCCGGCCACTTTTTTTCTGTTTAGAGTTCTGCAAGCAAAGGAT AATAACTGTCTTTAGATGTTTTCTTAGATAACAATTGTATTTATAAGTTC AACCTGATAAATCATGTGATAACAGATCACTTGGTGTAATTGAAGATAGT CCAAGATTTACCTTTTAAATAAGTGTATTGAATATTTTTAATTTTTCAAT ACAACAGCATAGCATATGGATTTGGCTTTTTGAATGCAGTGTTTTGCAGG GCAAGATTTCAGTAAATTTTGGCTAAGAAAATTGAAGTATTCTGGCCTTA TGTACCTATTAAGTAACAGAAAGTTACTTAACCTATTATGTGCACCTCAT TCCTACCAAGATCTTTTTTTTTTTTTCTTTTTTTTTTTTTGAGACTCCGT CTCGGTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTG CAAGCTCCGCATCCCGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCACCCACCACCAC	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524544	C C	CACCACAC others(650): Show CACCACACCCGGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAC TTTTTTTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGA TGTTTTCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATG TGATAACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTT AAATAAGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATA TGGATTTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAA TTTTGGCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAA CAGAAAGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCA GGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCG GGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CACCCACT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	324	0.0031	657	c.110 others(674): Show c.1108+278_1108+279insACCCGGCTAATTTTTTGTATTGTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTAGAACTCCTGACCTT GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCACCCGGCCACTTTTTTTCTGTTTAGAGTTCTGCAAGCAAAGGAT AATAACTGTCTTTAGATGTTTTCTTAGATAACAATTGTATTTATAAGTTC AACCTGATAAATCATGTGATAACAGATCACTTGGTGTAATTGAAGATAGT CCAAGATTTACCTTTTAAATAAGTGTATTGAATATTTTTAATTTTTCAAT ACAACAGCATAGCATATGGATTTGGCTTTTTGAATGCAGTGTTTTGCAGG GCAAGATTTCAGTAAATTTTGGCTAAGAAAATTGAAGTATTCTGGCCTTA TGTACCTATTAAGTAACAGAAAGTTACTTAACCTATTATGTGCACCTCAT TCCTACCAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGT CTCGGTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTG CAAGCTCCGCATCCCGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCACCCACTACCAC	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(650): Show GGCTAATTTTTTGTATTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTGTTT AGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTAGAT AACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGATCA CTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGTATT GAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGCTTT TTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAAGAA AATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTACTT AACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTGGAGTG CAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACTAC CACGCCCA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0238 a0001c0001t0027g0238	1	324	0.0031	657	c.110 others(674): Show c.1108+299_1108+300insAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTC TGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCT TAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACA GATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGT GTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTG GCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCT AAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGT TACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTC TCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCC ACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(650): Show GGCTAATTTTTTGTATTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTGTTT AGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTAGAT AACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGATCA CTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGTATT GAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGCTTT TTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAAGAA AATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTACTT AACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTGGAGTG CAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTAC CACGCCCA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0036 a0001c0008t0036	a0001c0008t0036g0015 a0001c0008t0036g0015	1	324	0.0031	657	c.110 others(674): Show c.1108+299_1108+300insAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTC TGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCT TAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACA GATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGT GTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTG GCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCT AAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGT TACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTC TCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC ACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(650): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTCTCGGTTTGTCGCCCAGGCTGGAGTG CAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACTAC CACGCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02895.hp1 others(3): Show HG02257.hp2 HG02559.hp2 HG02895.hp1 HG03139.hp1 HG03453.hp1 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0017 a0004c0004t0026 others(2): Show a0004c0004t0006 a0004c0004t0017 a0004c0004t0026 a0004c0004t0033 a0004c0004t0059	a0004c0004t0006g0197 a0004c0004t0006g0268 a0004c0004t0017g0006 others(3): Show a0004c0004t0006g0197 a0004c0004t0006g0268 a0004c0004t0017g0006 a0004c0004t0026g0284 a0004c0004t0033g0282 a0004c0004t0059g0191	6	324	0.0185	657	c.110 others(674): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTCGGTTTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTC TCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCC ACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(650): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTGGAGTG CAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACTAC CACGCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(43): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG01167.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02273.hp2 HG02280.hp2 HG02615.hp2 HG02886.hp2 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18945.hp2 NA18962.hp1 NA18969.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18993.hp1 NA19012.hp1 NA19062.hp2 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0008	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0006c0007 a0008c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0034 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0063 a0001c0001t0076 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0012 a0002c0002t0031 a0002c0002t0043 a0002c0002t0082 a0002c0002t0084 a0005c0005t0016 a0006c0007t0001 a0006c0007t0008 a0008c0027t0002	a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0124 others(43): Show a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0002g0058 a0001c0001t0002g0096 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0170 a0001c0001t0003g0193 a0001c0001t0005g0211 a0001c0001t0007g0260 a0001c0001t0008g0199 a0001c0001t0011g0136 a0001c0001t0020g0048 a0001c0001t0021g0317 a0001c0001t0034g0011 a0001c0001t0038g0293 a0001c0001t0040g0283 a0001c0001t0042g0322 a0001c0001t0057g0245 a0001c0001t0058g0292 a0001c0001t0060g0263 a0001c0001t0063g0163 a0001c0001t0076g0287 a0002c0002t0002g0092 a0002c0002t0003g0139 a0002c0002t0005g0060 a0002c0002t0005g0188 a0002c0002t0012g0100 a0002c0002t0031g0243 a0002c0002t0031g0279 a0002c0002t0043g0007 a0002c0002t0082g0091 a0002c0002t0084g0152 a0005c0005t0016g0028 a0005c0005t0016g0181 a0006c0007t0001g0210 a0006c0007t0008g0277 a0008c0027t0002g0001	46	324	0.1420	657	c.110 others(674): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTC TCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCC ACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(650): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACTCTGTCTCGGTTTGTCGCCCAGGCTGGAGTG CAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACTAC CACGCCCA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0172 a0001c0001t0011g0172	1	324	0.0031	657	c.110 others(674): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACTCTGTCTCGGTTTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTC TCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCC ACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(650): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTGGAGTG CAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACTAC CACGCCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG02615.hp1 others(2): Show HG00642.hp1 HG01109.hp2 HG02615.hp1 HG03486.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0223 a0001c0001t0003g0161 a0001c0001t0005g0241 others(2): Show a0001c0001t0001g0223 a0001c0001t0003g0161 a0001c0001t0005g0241 a0001c0001t0006g0311 a0001c0001t0011g0171	5	324	0.0154	657	c.110 others(674): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCTGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTC TCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCC ACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(650): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTGGAGTG CAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACTAC CACGCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG00639.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0259 a0001c0001t0008g0299 a0001c0001t0001g0259 a0001c0001t0008g0299	2	324	0.0062	657	c.110 others(674): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTC TCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCC ACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CMIP_chr16_81439808_81716762	81577503	C C	CACCATCA others(650): Show CACCATCACCTTCATCACCACCATCATCCCCATTACCACTACATTATTAT CACTATCACCATCACCACCATCATCACCATCACCTTCATCACCACCATCA TCCCCATTACCACTACATTATTATCACTATCACCATCACCATCATCACCA TCACCTTCATCATCACCGTCATCCCCATTACCACTACGCTATTATCACTA TCACCATCACCATCATCACCATCACCTTCATCATCACCATCATCCCCATT ACCACTACGCTATTATCACTGTCACCATCACCATCATCACCATCACCTTC ATCATCACCATCATCCCCATTACCACTACGCTATTATCACTGTCACCATC ACCATCATCACCATCACCTTCATCACCACCATCATCCCCATTACCACTAC ATTATTATCACTATCACCATCACCATCATCACCATCACCTTCATCACCAC CATCATCCCCATTACCACTACTTTATTATCACTATCACCATCACCATCAT CACCATCACCTTCATCACCACCATCATCCCCATTACCACTACATTATTAT CACTATCACCATCACCATCATCACCATCACCACCATCATAACCATCACCT TCATCACCATCATCCCCATTACCACTACATTATTATCACTATCACCATCA CCATCATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	268	0.0037	657	c.301 others(676): Show c.301-30029_301-30028insCACTACATTATTATCACTATCACCAT CACCACCATCATCACCATCACCTTCATCACCACCATCATCCCCATTACCA CTACATTATTATCACTATCACCATCACCATCATCACCATCACCTTCATCA TCACCGTCATCCCCATTACCACTACGCTATTATCACTATCACCATCACCA TCATCACCATCACCTTCATCATCACCATCATCCCCATTACCACTACGCTA TTATCACTGTCACCATCACCATCATCACCATCACCTTCATCATCACCATC ATCCCCATTACCACTACGCTATTATCACTGTCACCATCACCATCATCACC ATCACCTTCATCACCACCATCATCCCCATTACCACTACATTATTATCACT ATCACCATCACCATCATCACCATCACCTTCATCACCACCATCATCCCCAT TACCACTACTTTATTATCACTATCACCATCACCATCATCACCATCACCTT CATCACCACCATCATCCCCATTACCACTACATTATTATCACTATCACCAT CACCATCATCACCATCACCACCATCATAACCATCACCTTCATCACCATCA TCCCCATTACCACTACATTATTATCACTATCACCATCACCATCATAACCA TCACCTTCATCACCACCATCATCCCCATTAC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL4A1_chr13_110143963_110312157	110255786	A A	AGGGGGAA others(650): Show AGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGAGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG CAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19010.hp2 NA18984.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0069 a0001c0003 a0001c0069	a0001c0003t0001 a0001c0069t0001 a0001c0003t0001 a0001c0069t0001	a0001c0003t0001g0105 a0001c0069t0001g0160 a0001c0003t0001g0105 a0001c0069t0001g0160	2	344	0.0058	657	c.85- others(674): Show c.85-13053_85-13052insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCTCCTCCCTTC CTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134760054	A A	ACACCCAC others(650): Show ACACCCACACACTCATACATGCACACCCACGCACACACGCACACACACCC ACACACACCCACACTCATACATGCACACACACGCATACACGCCCACACAC CCCCACACTCATACACGCCCACACACCCCCACACTCACATGTGCACAGAC ACCACACATGCACACACATACATGCACACACACATACCCACACCCCCACA CTCATACACACATGCACACACCACACATGCACACACACGCATACACACCC ACACCGCACACATACACACATGCACACACGCACACCCCCCACACCCCCCA CACTCATACACACATGCACACACACACTCACACACCCCCACACATACACA CATGCACACACACCACACATGCACACACACCACACATGCACACATACGCA TACACACCCACACACACCCACACTCATACACACATGCACACACACCACAC ATGCATACACACCCACGCACCCCCACACTCATACACACATGCACACACAC CACACATGCACACAATACACACCCACACTCCCACACACATGCACACACAC CACACATGCACACACGCATACACACCCACACCCCCCACTCACACACACGC ACACCCCCACACTCATACACACATGCACACACACCACACAGGCACACACA CACCCACG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0258 a0001c0005t0014g0258	1	272	0.0037	657	c.193 others(676): Show c.1935+1763_1935+1764insACACACTCATACATGCACACCCACGC ACACACGCACACACACCCACACACACCCACACTCATACATGCACACACAC GCATACACGCCCACACACCCCCACACTCATACACGCCCACACACCCCCAC ACTCACATGTGCACAGACACCACACATGCACACACATACATGCACACACA CATACCCACACCCCCACACTCATACACACATGCACACACCACACATGCAC ACACACGCATACACACCCACACCGCACACATACACACATGCACACACGCA CACCCCCCACACCCCCCACACTCATACACACATGCACACACACACTCACA CACCCCCACACATACACACATGCACACACACCACACATGCACACACACCA CACATGCACACATACGCATACACACCCACACACACCCACACTCATACACA CATGCACACACACCACACATGCATACACACCCACGCACCCCCACACTCAT ACACACATGCACACACACCACACATGCACACAATACACACCCACACTCCC ACACACATGCACACACACCACACATGCACACACGCATACACACCCACACC CCCCACTCACACACACGCACACCCCCACACTCATACACACATGCACACAC ACCACACAGGCACACACACACCCACGCACCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRTC3_chr15_90524923_90650345	90647332	A A	ACCCCTTC others(650): Show ACCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCACACCCCTCCTCCTC CTCCACACTCTTACCCCTCCACACCCCTCCTCTTCCACCAGACCCCTCCT CCACACCCCTCCCCCCACCTCACTTCTCCCCCTTCACACACCTCCTCAAC CTTCACATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCACCCCTCTCCC CTCATCACCTCTCCTCCTCCTCCACACCCATCATCCTCCACGCCCCTTCT CCTCACTCCTCCTCCTCCTGCACACCCCTTCTCCTCCTCACCCTTTGTCC TACTCCACACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTCCTC CTCCATACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCACCCC GTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCT CCTGCTCCACATCCCTCCCCCTCCACCCCCTCCACACCCCTCCTCTGCCT CATGCCTCTTCCTCACCCCTCCTCCTCCACACCCCTCATCCTCCTCCACA CCCCTCCTCCGCCTCACCCCTCCTCCGCCTCACCCCTCCTCCTCACCCCT TCTCCTCTCCACATCCCTCCTGCTCCACATCCCTCCTGCTCCACATCCCT CCCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	276	0.0036	657	c.51 others(668): Show c.5192_*5193insCCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCC ACACCCCTCCTCCTCCTCCACACTCTTACCCCTCCACACCCCTCCTCTTC CACCAGACCCCTCCTCCACACCCCTCCCCCCACCTCACTTCTCCCCCTTC ACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCCCCCT CCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCATCATC CTCCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGCACACCCCTTCTCCT CCTCACCCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCTTCTCT TCACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACTCTCCTCCTCCAC ACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTC CTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCACCCCCTCCAC ACCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTCCACACCCC TCATCCTCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCCGCCTCACCC CTCCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCCACATCCCTC CTGCTCCACATCCCTCCCCCTCC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1988		chr15	TogoVar
CYP4F11_chr19_15907377_15939529	15933885	A A	AGGAATGA others(650): Show AGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAG AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAG AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAG AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAG AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAG AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAG AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0101 a0002c0001t0101	a0002c0001t0101g0362 a0002c0001t0101g0362	1	386	0.0026	657	c.198 others(672): Show c.198+325_198+326insCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(650): Show GTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTAGTGGTAGTAGTGGTGGTGATGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0004 a0004c0008t0004g0004	1	288	0.0035	657	c.190 others(676): Show c.1909+7356_1909+7357insAGGTGGTGGTGGTGGTGGTGATGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGTTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTAGTGGTAGTAGTGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FHIT_chr3_59742277_61256452	60861213	T T	TATATATC others(650): Show TATATATCATATATATCATATATGATATATATCATATATATCATATATGA TATATATCATATATATCATATATGATATATATCATATATATCATATATGA TATATATCATATATATCATATATGATATATATCATATATATCATATATGA TATATATCATATCATATATGATATATATCATATCATATATGATATATATC ATATCATATATGATATATATCATATCATATATGATATATATCATATCATA TATGATATATATGATATATATCATATCATATATATCATATATATCATATA TGATATATATGATATATCATATATATCATATATGATATATATGATATATA TGATATATCATATCATATCATATATGATATATATGATATATATGATATAT CATATCATATCATATATGATATATATGATATATATGATATATCATATCAT ATCATATATGATATATATGATATATATGATATATCATATCATATCATATA TGATATATATGATATATATGATATATCATATCATATCATATATGATATAT ATGATATATATGATATATCATATCATATCATATATGATACATATGATATA TATGATATATCATATCATATCATATATGATATATATGATATATATGATAT ATCATATC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	46	0.0217	657	c.-11 others(678): Show c.-110-39203_-110-39202insGATATGATATATCATATATATCAT ATATATCATATATGATATGATATGATATATCATATATATCATATGTATCA TATATGATATGATATGATATATCATATATATCATATATATCATATATGAT ATGATATGATATATCATATATATCATATATATCATATATGATATGATATG ATATATCATATATATCATATATATCATATATGATATGATATGATATATCA TATATATCATATATATCATATATGATATGATATGATATATCATATATATC ATATATATCATATATGATATGATATGATATATCATATATATCATATATAT CATATATGATATATATGATATATCATATATATCATATATGATATATATGA TATATATGATATGATATATATCATATATATCATATATGATATGATATATA TCATATATGATATGATATATATCATATATGATATGATATATATCATATAT GATATGATATATATCATATATGATATGATATATATCATATATGATATATA TGATATATATCATATATGATATATATGATATATATCATATATGATATATA TGATATATATCATATATGATATATATGATATATATCATATATGATATATA TGATATATATCATATATGATATATATGATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FMN2_chr1_240086883_240480187	240184976	T T	TCCCCCTT others(650): Show TCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCT TCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTATAACTT CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCT ATAACTTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0012 a0012	a0012c0119 a0012c0119	a0012c0119t0003 a0012c0119t0003	a0012c0119t0003g0117 a0012c0119t0003g0117	1	174	0.0058	657	c.193 others(676): Show c.1931-3227_1931-3226insCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAACTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTC TTTCTCCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CCTTCTCTTTCTCCCTCCTATAACTTCCCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALR1_chr18_77244848_77282900	77252881	T T	TCACCACC others(650): Show TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ATCACCAC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	366	0.0027	657	c.666 others(674): Show c.666+1681_666+1682insCCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
HBQ1_chr16_175459_186179	186170	G G	GGAGGAAC others(650): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	657	c.50 others(668): Show c.5062_*5063insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4992		chr16	TogoVar
HPCAL1_chr2_10297904_10432604	10399273	A A	ACCACCAC others(650): Show ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCATCACCGCCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ATCACCGCCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCACCATCACCACCATCATCACCACCATCACCACCGCC ACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCATCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCATCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCATCATCACCACCAT CACCACCG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	314	0.0032	657	c.-25 others(674): Show c.-25+2359_-25+2360insCCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCATCACCGCCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCGCCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCATCACCACCATCATCACC ACCATCACCACCGCCACCATCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCATCACCACCATCACCATCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCATCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CATCATCACCACCATCACCACCGCCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33323138	T T	TATATATG others(650): Show TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATGGAATATATACGTATGGAATATATATATATGGAATAT ACGTATGGAATATATATATGGAATATACGTATGGAATATATATATATGGA ATATACGTATGGAATATATATATATGGAATATATATGTATGGAATATATA TATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAA TATATATATGGAATATATATGTATGGAATATATATGTATGGAATATATAT GTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAAT ATATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATG TATGGAATATATATATGGAATATATATGTATGGAATATACATATGGAATA TATATGTTTGGAATATATATATATGGAATATATATGTATGGAATATATAT ATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGAATAT ATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTATG GAATATATATATGGAATATATGTATATGGAATATATATATGGAATATATA TATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	657	c.-19 others(668): Show c.-1918_-1917insATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATAT ATATATATGGAATATACGTATGGAATATATATATGGAATATACGTATGGA ATATATATATATGGAATATACGTATGGAATATATATATATGGAATATATA TGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAA TATATATGTATGGAATATATATATGGAATATATATGTATGGAATATATAT GTATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGA ATATATATATGGAATATATATGTATGGAATATATATATGGAATATATATG TATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAA TATACATATGGAATATATATGTTTGGAATATATATATATGGAATATATAT GTATGGAATATATATATATGGAATATATGTATGGAATATATATATGGAAT ATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATA TGGAATATATGTATGGAATATATATATGGAATATATGTATATGGAATATA TATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1831		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323166	T T	TATATATA others(650): Show TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATATGGAAT ATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATA TGGAATATACGTATGGAATATATATATGGAATATATATGTATGGAATATA TATGTATGGAATATATATGTATGGAATATATATGTATGGAATATATATGT ATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAATAT ATATGTATGGAATATATATATGGAATATATATATGGAATATATATGTATG GAATATACATATGGAATATATATGTATGGAATATACATATGGAATATATA TGTTTGGAATATATATATATGGAATATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATGGAATATATGTATGGAATATATAT ATATGGAATATATGTATGGAATATATATATATGGAATATATGTATGGAAT ATATATATATGGAATATATGTATGGAATATATATATGGAATATATGTATG GAATATATATATGGAATATATGTATATGGAATATATATATGGAATATATG TATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0209 a0002c0002t0016g0209	1	323	0.0031	657	c.-18 others(668): Show c.-1890_-1889insATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATGGAATATA TATGTATGGAATATATATGTATGGAATATATATGTATGGAATATATATGT ATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAAT ATATATATGGAATATATATGTATGGAATATATATATGGAATATATATATG GAATATATATGTATGGAATATACATATGGAATATATATGTATGGAATATA CATATGGAATATATATGTTTGGAATATATATATATGGAATATATATGTAT GGAATATATATATATGGAATATATGTATGGAATATATATATGGAATATAT GTATGGAATATATATATATGGAATATATGTATGGAATATATATATATGGA ATATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATA TGGAATATATGTATGGAATATATATATGGAATATATGTATATGGAATATA TATATGGAATATATGTATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1803		chr21	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(650): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCG GGGCTCAGGCAGGAGAGGTGGGACTCAGGTGGGGAGGCAGGACTCAGGAG GGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCT CAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGG CAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGG AGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAG GGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCG GGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGG GAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTC AGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGG GAGGCGGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0222 a0002c0009t0002g0222	1	282	0.0036	657	c.623 others(674): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCGGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGTGGGACTCAGGTG GGGAGGCAGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCT CGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGAG GTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTC GGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGG GGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(650): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCT CCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	657	c.-27 others(668): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(650): Show CCACACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTT CAAACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACA CACACACACCACACACACATCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCTTCAAACACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAACAC ACACCTCCTTCAAACACACACACACACCTCCACACACACACACACACCTA ACACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACA CACCTCCTTCAAACACACACCTCCACACACACACACACCTAACACACACC TCCTTCAAACACACACACCTCCAAACACACACACACCTAACACACACACC TTCAAACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18962.hp1 HG00609.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0255 a0002c0002t0002g0216 a0001c0001t0001g0255 a0002c0002t0002g0216	2	262	0.0076	657	c.212 others(676): Show c.212+10958_212+10959insACACCTAACACGCACCTCGTTCAAAC GCACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCT CCAAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAA CACACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACAC CCGTCCTTCAAACACACACACACCACACACACATCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCTTCAAACA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACACA CACACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCAC ACACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACAC ACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACAC CTAACACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104824186	T T	TATATATA others(650): Show TATATATATTATATATTATATATTATATATATAATATATATATTATATAT TATATATATAATATATATATTATATATTATATATATAATATATATATTAT ATATAATATATTATATATTATATATTATATATAATATATTATATATTATA TATTATATATATAATATATTATATATTATATATTATATATATATTATATT ATATATTATATATAATTATATATATATTATATATTATATATTATATATTA TATATTATATATTATATATATTATATATTATATATTATATATTATATATA TTATATATTATATATACAATTATATATATTATATATATTATATATTATAT AATATATTATATATATAATATATATTATATATTATATATTATATAATATA TTATATATATAATATATTATATATTATATATTATATAATATATTATATAT TATATATATTATATATTATATATTATATATTATATATATAATATATATTA TATATTATATATTATATATATTATATATATTATATATATTATATATAATA TATATAATTGTATATATAATATATAATATATAATATATATAATATATAAT ATATAATATATAATATATATAATATATTATATATAATATATAATATATAA TATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	86	0.0116	657	c.683 others(676): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATATTATATATAATATATTATATATTATATATTATATATA ATATATTATATATTATATATTATATATATAATATATTATATATTATATAT TATATATATATTATATTATATATTATATATAATTATATATATATTATATA TTATATATTATATATTATATATTATATATTATATATATTATATATTATAT ATTATATATTATATATATTATATATTATATATACAATTATATATATTATA TATATTATATATTATATAATATATTATATATATAATATATATTATATATT ATATATTATATAATATATTATATATATAATATATTATATATTATATATTA TATAATATATTATATATTATATATATTATATATTATATATTATATATTAT ATATATAATATATATTATATATTATATATTATATATATTATATATATTAT ATATATTATATATAATATATATAATTGTATATATAATATATAATATATAA TATATATAATATATAATATATAATATATAATATATATAATATATTATATA TAATATATAATATATAATATATATAATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471482	T T	TTATATAT others(650): Show TTATATATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATA TATATTACATATATTTTTATATTTTATATATATTTATATATTTTATATAT TTATATATTTTTTATATATTTATATATTTATATATATATTTATATATATT TATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATA TATTTATATATATTTATGTATATTTATATATATTTATATATTTATGTATA TATTTATATATATTTATATATTTATGTATAAATTTATATATATTTATATG TATTTATATATATATTTATATGTATTTATATATATTTATATATTTATATG TATTTATACATATATATTTATATGTATTTATATATATTTATATATATTTT TTATGTATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATATTTATATATATAT TATTTATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	260	0.0039	657	c.125 others(674): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATATTTATATGTATTTATATATATT TATATATTTATATGTATTTATACATATATATTTATATGTATTTATATATA TTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATATTATTTATATATATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471482	T T	TTATATAT others(650): Show TTATATATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATA TATATTACATATATTTTTATATTTTATATATATTTATATATTTTATATAT TTATATATTTTTTATATATTTATATATTTATATATATATTTATATATATT TATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATA TATTTATATATATTTATGTATATTTATATATATTTATATATTTATGTATA TATTTATATATATTTATATATTTATGTATAAATTTATATATATTTATATG TATTTATATATATATTTATATGTATTTATATATTTATATATTTATATGTA TTTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTT ATGTATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATATTTATATATATAT TATTTATA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	260	0.0039	657	c.125 others(674): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATATTTATATGTATTTATATATTTA TATATTTATATGTATTTATACATATATATTTATATGTATTTATATATATT TATATATATTTTTTATGTATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT TTATATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATATTATTTATATATATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471482	T T	TTATATAT others(650): Show TTATATATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATA TATATTACATATATTTTTATATTTTATATATATTTATATATTTTATATAT TTATATATTTTTTATATATTTATATATTTATATATATATTTATATATATT TATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATA TATTTATATATATTTATGTATATTTATATATATTTATATATTTATGTATA TATTTATATATATTTATATATTTATGTATAAATTTATATATATTTATATG TATTTATATATATTTATATGTATTTATATATATTTATATATTTATATGTA TTTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTT ATGTATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATATTTATATATATAT TATTTATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	260	0.0039	657	c.125 others(674): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATTTATATGTATTTATATATATTTA TATATTTATATGTATTTATACATATATATTTATATGTATTTATATATATT TATATATATTTTTTATGTATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATATTATTTATATATATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	894225	G G	GCCCACCC others(650): Show GCCCACCCGTCCCCCTGTCCACTGGACTATCCGCCCACCCGTCCCCCTGT CCACCGGACCGTCCGCCCACCCGTCCCCATGTCCATCAGACCGTCCGTCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCATTCGCCCACCCATCCCCC TGTCCACCTGGCCATCCGCCCACCTGTCTCCTGTCCACCGGACCGTCCAC CCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCC CCTGTCCACCGGACTGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATC CGCCCACCCATCCCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGT CCAGCAGAACGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCGTCTGCCCACCCGTCCCCC TGTCCACCTGGCCATCCGCCCACCCATCCCCTGTCCACTGGACCGTCCAC CCACCCGTCCCCCTGTCCAGCGGACCGTCCACCCACCCGTCCCCCTGTCC AGCGGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACCGTCCGCCCAC CTGTCCCCCTGTCCACCTGGCAGTGCGCCCACCCATCCCCTGTCCACCGG ACCGTCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(119): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG02886.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0012 a0016 a0019 a0023 a0024	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0018 a0001c0026 a0001c0033 a0002c0007 a0002c0052 a0002c0054 a0003c0009 a0004c0029 a0005c0034 a0007c0028 a0008c0045 a0008c0061 a0012c0031 a0016c0065 a0019c0057 a0023c0063 a0024c0064	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0005t0001 a0001c0005t0012 a0001c0008t0001 a0001c0010t0001 a0001c0012t0001 a0001c0013t0001 a0001c0013t0014 a0001c0018t0001 a0001c0026t0001 a0001c0033t0001 a0002c0007t0001 a0002c0052t0001 a0002c0054t0001 a0003c0009t0001 a0004c0029t0003 a0005c0034t0015 a0007c0028t0004 a0008c0045t0003 a0008c0061t0003 a0012c0031t0001 a0016c0065t0001 a0019c0057t0001 a0023c0063t0001 a0024c0064t0001	a0001c0001t0001g0024 a0001c0001t0001g0104 a0001c0001t0001g0105 others(119): Show a0001c0001t0001g0024 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0293 a0001c0001t0003g0196 a0001c0001t0013g0191 a0001c0001t0017g0162 a0001c0001t0019g0258 a0001c0002t0001g0021 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0059 a0001c0002t0001g0288 a0001c0003t0001g0102 a0001c0003t0001g0144 a0001c0003t0001g0179 a0001c0003t0001g0186 a0001c0003t0001g0195 a0001c0003t0005g0146 a0001c0004t0001g0054 a0001c0004t0001g0061 a0001c0005t0001g0047 a0001c0005t0001g0080 a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0116 a0001c0005t0001g0129 a0001c0005t0001g0130 a0001c0005t0001g0248 a0001c0005t0012g0110 a0001c0008t0001g0023 a0001c0008t0001g0069 a0001c0008t0001g0074 a0001c0008t0001g0090 a0001c0010t0001g0279 a0001c0012t0001g0094 a0001c0013t0001g0043 a0001c0013t0001g0168 a0001c0013t0014g0022 a0001c0018t0001g0152 a0001c0026t0001g0234 a0001c0026t0001g0235 a0001c0033t0001g0275 a0002c0007t0001g0120 a0002c0007t0001g0141 a0002c0007t0001g0148 a0002c0007t0001g0149 a0002c0007t0001g0172 a0002c0007t0001g0182 a0002c0052t0001g0018 a0002c0054t0001g0114 a0003c0009t0001g0001 a0003c0009t0001g0007 a0004c0029t0003g0193 a0004c0029t0003g0203 a0005c0034t0015g0274 a0007c0028t0004g0265 a0008c0045t0003g0072 a0008c0061t0003g0210 a0012c0031t0001g0012 a0016c0065t0001g0140 a0019c0057t0001g0154 a0023c0063t0001g0187 a0024c0064t0001g0139	122	294	0.4150	657	c.664 others(674): Show c.664-1154_664-1153insTGGACGGTCCGGTGGACAGGGGATGGGT GGGCGCACTGCCAGGTGGACAGGGGGACAGGTGGGCGGACGGTCCAGTGG ACAGGGGGACGGGTGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGGT GGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTCCAGTGGACAG GGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGGTGGGCAGACG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGACAGTCCAGTGGAC AGGGGGACGGGTGGGTGGACGTTCTGCTGGACAGGGGGACGGGTGGGTGG ACGGTCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGG GACGGGTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGC GGACAGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAG GAGACAGGTGGGCGGATGGCCAGGTGGACAGGGGGATGGGTGGGCGAATG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGACGGACGGTCTGATGGAC ATGGGGACGGGTGGGCGGACGGTCCGGTGGACAGGGGGACGGGTGGGCGG ATAGTCCAGTGGACAGGGGGACGGGTGGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	894225	G G	GCCCACCC others(650): Show GCCCACCCGTCCCCCTGTCCACTGGACTATCCGCCCACCCGTCCCCCTGT CCACCGGACCGTCCGCCCACCCGTCCCCATGTCCATCAGACCGTCCGTCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCATTCGCCCACCCATCCCCC TGTCCACCTGGCCATCCGCCCACCTGTCTCCTGTCCACCGGACCGTCCAC CCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCC CCTGTCCACCGGACTGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATC CGCCCACCCATCCCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGT CCAGCAGAACGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCGTCTGCCCACCCGTCCCCC TGTCCACCTGGCCATCCGCCCACCCATCCCCTGTCCAGCGGACCGTCCAC CCACCCGTCCCCCTGTCCAGCGGACCGTCCACCCACCCGTCCCCCTGTCC AGCGGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACCGTCCGCCCAC CTGTCCCCCTGTCCACCTGGCAGTGCGCCCACCCATCCCCTGTCCACCGG ACCGTCCA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0071 a0001c0008t0002g0071	1	294	0.0034	657	c.664 others(674): Show c.664-1154_664-1153insTGGACGGTCCGGTGGACAGGGGATGGGT GGGCGCACTGCCAGGTGGACAGGGGGACAGGTGGGCGGACGGTCCAGTGG ACAGGGGGACGGGTGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGGT GGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTCCGCTGGACAG GGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGGTGGGCAGACG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGACAGTCCAGTGGAC AGGGGGACGGGTGGGTGGACGTTCTGCTGGACAGGGGGACGGGTGGGTGG ACGGTCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGG GACGGGTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGC GGACAGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAG GAGACAGGTGGGCGGATGGCCAGGTGGACAGGGGGATGGGTGGGCGAATG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGACGGACGGTCTGATGGAC ATGGGGACGGGTGGGCGGACGGTCCGGTGGACAGGGGGACGGGTGGGCGG ATAGTCCAGTGGACAGGGGGACGGGTGGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	894225	G G	GCCCACCC others(650): Show GCCCACCCGTCCCCCTGTCCACTGGACTATCCGCCCACCCGTCCCCCTGT CCACCGGACCGTCCGCCCACCCGTCCCCATGTCCATCAGACCGTCCGTCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCATTCGCCCACCCATCCCCC TGTCCACCTGGCCATCCGCCCACCTGTCTCCTGTCCACCGGACCGTCCAC CCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCC CCTGTCCACCGGACTGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATC CGCCCACCCATCCCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGT CCAGCAGAACGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCC ACCTGTCCCCCTGTCCCCTGTCCACTGGACCGTCTGCCCACCCGTCCCCC TGTCCACCTGGCCATCCGCCCACCCATCCCCTGTCCACTGGACCGTCCAC CCACCCGTCCCCCTGTCCAGCGGACCGTCCACCCACCCGTCCCCCTGTCC AGCGGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACCGTCCGCCCAC CTGTCCCCCTGTCCACCTGGCAGTGCGCCCACCCATCCCCTGTCCACCGG ACCGTCCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0037 a0001c0005t0001g0037	1	294	0.0034	657	c.664 others(674): Show c.664-1154_664-1153insTGGACGGTCCGGTGGACAGGGGATGGGT GGGCGCACTGCCAGGTGGACAGGGGGACAGGTGGGCGGACGGTCCAGTGG ACAGGGGGACGGGTGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGGT GGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTCCAGTGGACAG GGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGGTGGGCAGACG GTCCAGTGGACAGGGGACAGGGGGACAGGTGGGCGGACAGTCCAGTGGAC AGGGGGACGGGTGGGTGGACGTTCTGCTGGACAGGGGGACGGGTGGGTGG ACGGTCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGG GACGGGTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGC GGACAGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAG GAGACAGGTGGGCGGATGGCCAGGTGGACAGGGGGATGGGTGGGCGAATG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGACGGACGGTCTGATGGAC ATGGGGACGGGTGGGCGGACGGTCCGGTGGACAGGGGGACGGGTGGGCGG ATAGTCCAGTGGACAGGGGGACGGGTGGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	894225	G G	GCCCACCC others(650): Show GCCCACCCGTCCCCCTGTCCACTGGACTATCCGCCCACCCGTCCCCCTGT CCACCGGACCGTCCGCCCACCCGTCCCCATGTCCATCGGACCGTCCGTCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCATTCGCCCACCCATCCCCC TGTCCACCTGGCCATCCGCCCACCTGTCTCCTGTCCACCGGACCGTCCAC CCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCC CCTGTCCACCGGACTGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATC CGCCCACCCATCCCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGT CCAGCAGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCGTCTGCCCACCCGTCCCCC TGTCCACCTGGCCATCCGCCCACCCATCCCCTGTCCACTGGACCGTCCAC CCACCCGTCCCCCTGTCCAGCGGACCGTCCACCCACCCGTCCCCCTGTCC AGCGGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACCGTCCGCCCAC CTGTCCCCCTGTCCACCTGGCAGTGCGCCCACCCATCCCCTGTCCACCGG ACCGTCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02818.hp1 HG02258.hp1 HG02451.hp1 HG02818.hp1	a0001 a0006 a0001 a0006	a0001c0022 a0006c0021 a0001c0022 a0006c0021	a0001c0022t0001 a0006c0021t0001 a0001c0022t0001 a0006c0021t0001	a0001c0022t0001g0241 a0001c0022t0001g0268 a0006c0021t0001g0020 a0001c0022t0001g0241 a0001c0022t0001g0268 a0006c0021t0001g0020	3	294	0.0102	657	c.664 others(674): Show c.664-1154_664-1153insTGGACGGTCCGGTGGACAGGGGATGGGT GGGCGCACTGCCAGGTGGACAGGGGGACAGGTGGGCGGACGGTCCAGTGG ACAGGGGGACGGGTGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGGT GGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTCCAGTGGACAG GGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGGTGGGCAGACG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGACAGTCCAGTGGAC AGGGGGACGGGTGGGTGGACGGTCTGCTGGACAGGGGGACGGGTGGGTGG ACGGTCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGG GACGGGTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGC GGACAGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAG GAGACAGGTGGGCGGATGGCCAGGTGGACAGGGGGATGGGTGGGCGAATG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGACGGACGGTCCGATGGAC ATGGGGACGGGTGGGCGGACGGTCCGGTGGACAGGGGGACGGGTGGGCGG ATAGTCCAGTGGACAGGGGGACGGGTGGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	894225	G G	GCCCACCC others(650): Show GCCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCCGTCCCCCTGT CCACCGGACCGTCCGCCCACCCGTCCCCATGTCCATCAGACCGTCCGTCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCATTCGCCCACCCATCCCCC TGTCCACCTGGCCATCCGCCCACCTGTCTCCTGTCCACCGGACCGTCCAC CCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCC CCTGTCCACCGGACTGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATC CGCCCACCCATCCCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGT CCAGCAGAACGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCGTCTGCCCACCCGTCCCCC TGTCCACCTGGCCATCCGCCCACCCATCCCCTGTCCACTGGACCGTCCAC CCACCCGTCCCCCTGTCCAGCGGACCGTCCACCCACCCGTCCCCCTGTCC AGCGGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACCGTCCGCCCAC CTGTCCCCCTGTCCACCTGGCAGTGCGCCCACCCATCCCCTGTCCACCGG ACCGTCCA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04184.hp2 HG03654.hp2 HG04184.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0059 a0001c0001 a0020c0059	a0001c0001t0001 a0020c0059t0002 a0001c0001t0001 a0020c0059t0002	a0001c0001t0001g0150 a0020c0059t0002g0199 a0001c0001t0001g0150 a0020c0059t0002g0199	2	294	0.0068	657	c.664 others(674): Show c.664-1154_664-1153insTGGACGGTCCGGTGGACAGGGGATGGGT GGGCGCACTGCCAGGTGGACAGGGGGACAGGTGGGCGGACGGTCCAGTGG ACAGGGGGACGGGTGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGGT GGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTCCAGTGGACAG GGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGGTGGGCAGACG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGACAGTCCAGTGGAC AGGGGGACGGGTGGGTGGACGTTCTGCTGGACAGGGGGACGGGTGGGTGG ACGGTCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGG GACGGGTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGC GGACAGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAG GAGACAGGTGGGCGGATGGCCAGGTGGACAGGGGGATGGGTGGGCGAATG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGACGGACGGTCTGATGGAC ATGGGGACGGGTGGGCGGACGGTCCGGTGGACAGGGGGACGGGTGGGCGG ACAGTCCAGTGGACAGGGGGACGGGTGGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	894225	G G	GCCCACCC others(650): Show GCCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCCGTCCCCCTGT CCACCGGACCGTCCGCCCACCCGTCCCCATGTCCATCGGACCGTCCATCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCATTCGCCCACCCATCCCCC TGTCCACCTGGCCATCCGCCCACCTGTCTCCTGTCCACCGGACCGTCCAC CCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCC CCTGTCCACCGGACTGTCTGCCCACCCGTCCCCCTGTCCACCTAGCCATC CGCCCACCCATCCCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGT CCAGCAGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCGTCTGCCCACCCGTCCCCC TGTCCACCTGGCCATCCGCCCACCCATCCCCTGTCCACTGGACCGTCCAC CCACCCGTCCCCCTGTCCAGCGGACCGTCCACCCACCCGTCCCCCTGTCC AGCGGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACCGTCCGCCCAC CTGTCCCCCTGTCCACCTGGCAGTGCGCCCACCCATCCCCTGTCCACCGG ACCGTCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02622.hp2 NA18522.hp2 HG00738.hp2 HG02622.hp2 NA18522.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0097 a0001c0012t0001g0098 a0001c0012t0001g0101 a0001c0012t0001g0097 a0001c0012t0001g0098 a0001c0012t0001g0101	3	294	0.0102	657	c.664 others(674): Show c.664-1154_664-1153insTGGACGGTCCGGTGGACAGGGGATGGGT GGGCGCACTGCCAGGTGGACAGGGGGACAGGTGGGCGGACGGTCCAGTGG ACAGGGGGACGGGTGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGGT GGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTCCAGTGGACAG GGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGGTGGGCAGACG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGACAGTCCAGTGGAC AGGGGGACGGGTGGGTGGACGGTCTGCTGGACAGGGGGACGGGTGGGTGG ACGGTCCGGTGGACAGGGGATGGGTGGGCGGATGGCTAGGTGGACAGGGG GACGGGTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGC GGACAGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAG GAGACAGGTGGGCGGATGGCCAGGTGGACAGGGGGATGGGTGGGCGAATG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGATGGACGGTCCGATGGAC ATGGGGACGGGTGGGCGGACGGTCCGGTGGACAGGGGGACGGGTGGGCGG ACAGTCCAGTGGACAGGGGGACGGGTGGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(650): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19065.hp2 HG00423.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0027 a0001c0004t0002 a0001c0004t0027	a0001c0004t0002g0169 a0001c0004t0027g0190 a0001c0004t0002g0169 a0001c0004t0027g0190	2	296	0.0068	657	c.368 others(674): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364576	C C	CTTACACC others(650): Show CTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCT TACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACC CTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACA CCCACCCTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACACTTACA TCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACGCC CACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTTACA CCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTCA CACCCACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCT TACATCTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0052 a0001c0009t0052	a0001c0009t0052g0282 a0001c0009t0052g0282	1	290	0.0035	657	c.129 others(674): Show c.1290-848_1290-847insTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTTACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTTAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACACTTACATCTACCTCCACACCCACACTTACACCCAC CCTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTACACCC ACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACGCCCACACTCACACCCACCCACACTTACATCTACCTCCAC ACCCACACTCACACCCACCCTTACATCTA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LUC7L_chr16_183990_234449	186952	G G	GAGGAACA others(650): Show GAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACAC GGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGGGAACAGCGACAC GGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	350	0.0029	657	c.22 others(668): Show c.2245_*2246insTCCCTCCCGTGTCGCTGTTCCCCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGC TGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCG TGTCGCTGTTCCTCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2037		chr16	TogoVar
MICAL3_chr22_17782649_18029561	17876757	A A	AGGAGGTT others(650): Show AGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAA GTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTAT GGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGC TTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGT TAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGG AAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTT ATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGG GAGGTTAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	274	0.0037	657	c.224 others(676): Show c.2242-4735_2242-4734insATAACCTCCCTCACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCAT AACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCT CCCTAACCTCCATAAGCTCCCTAACCTCCTTAACCTCCCTAACCTCCATA AGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTC CCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAAC CTCCCTAACCTCCATAAGCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877153	G G	GGGAAGTT others(650): Show GGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTTAGG GAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGG AGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTT AGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTGAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTAT GGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGG GAGGTTAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	274	0.0037	657	c.224 others(676): Show c.2242-5131_2242-5130insATAACCTCCCTCACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACTGCCATAACCTCC ATAACTTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACT TCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCAT AACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCT CCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTC CATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAC TTCCCTAACCTCCATAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(650): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTC CCGTCTCCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCCTCCTCCC CTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCC CCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCCTCCCCTCCCCC CTCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	140	0.0071	657	c.114 others(676): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCCTCTCCCCTCCCG TCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCCTCCCGTCTCCCCTCCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCC CTCCTCCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYDGF_chr19_4652545_4675342	4663639	C C	CCCCACCC others(650): Show CCCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCCTCCCCACC CACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCA CCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCACCCTCAT TCTACAGCCTCCAATCTACCCTCCCCACCCACCCCACCCTCATTCTACAG CCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAA TCTACCCTCCCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCC TCCCCACCCACCCCACCCTCATTCTACACAGCCTCCAATCTACCCTCCCC ACCTCATCCTCATTCTACAGCCTCCAGTATACCCTCCCCACCCACCCTGT CCTCATTCTACACAGTCTCCAATCTGTGCTCTCCCCACCCACCCCATCCT CATTCTACAAAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTC TACACAGTCTCCAATCTGTGCCCTCTCCACCCACCCCATCCTCATTCTAC AGCCTCCAATCTACCCTCCCCACCTCATCCTCATTCTACAGCCTCCAGTA TACCCTCCCCACCCACCCTGTCCTCATTCTACACAGTCTCCAATCTGTGC TCTCCCCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	410	0.0024	657	c.287 others(674): Show c.287+1236_287+1237insTGGGGAGAGCACAGATTGGAGACTGTGT AGAATGAGGACAGGGTGGGTGGGGAGGGTATACTGGAGGCTGTAGAATGA GGATGAGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGG GTGGAGAGGGCACAGATTGGAGACTGTGTAGAATGAGGATGGGGTGGGTG GGGAGGGTAGATTGGAGGCTTTGTAGAATGAGGATGGGGTGGGTGGGGAG AGCACAGATTGGAGACTGTGTAGAATGAGGACAGGGTGGGTGGGGAGGGT ATACTGGAGGCTGTAGAATGAGGATGAGGTGGGGAGGGTAGATTGGAGGC TGTGTAGAATGAGGGTGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAG AATGAGGGTGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGG ATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGT GGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGG GAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGAGGGTA GATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGA GGCTGTAGAATGAGGGTGGGGTGGGTGGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149664	C C	CACACCAC others(650): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	294	0.0034	657	c.901 others(672): Show c.901+769_901+770insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOL4L_chr20_32438059_32590333	32563163	G G	GGGTGGAG others(650): Show GGGTGGAGTGCAGGGAGGGTGGAGGGAGGGAGAGTGGGGAGGGAGGGTAG AAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGGCAGGGAGGGT GGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGAGGGTGGGGAG GGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGATGGAGGGAGGGAGAG TGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGAGGGA GAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGGAG GGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGC AGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGCAG GGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGTGGGGAGGGTGGA GGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTGGAGGGGAGGGTG GAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGGGAGGGAGGGTGGAGGG AAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGGAGGGTGGAGGGGAAGG AGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAGGGGAGGGAGGGTGGAGG GCAGGGAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0067 a0001c0002t0017g0067	1	196	0.0051	657	c.321 others(676): Show c.321+21406_321+21407insATCCCTGCCCTCCACCCTCCCTCCCC TCCACCTTCCCCACTCTCCCTCCCTCCACCCTCCTTCCCCTCCACCCTCC CTCTCCACTCTCCCTCCCTCCCCACTCTCCTTCCCTCCACCCTCCCTCCC CACCCTCCCTGCTCTCCACCCTCCCTGCCCTCCACCCTCCCCTCCAACCT CCCCACTGTCCCTCCCTCCCCACTCCCTGCCCTCCACCCTCCCCACTCTC CCTCCCTCCATCCTCCCTGCCCTCCACCCTCCCTGCCCTCCACCCTCCCC ACTCTCCCTCCCTCCCCTCCTCCCTCCTCCCTGCCCTCCACCCTCCCCAC TCTCCCTCCCTCCACCCTCCCTCCCCTCCACCCTCCCCACTCTCCCTCCC TCCACCCTCCCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCTG CCTTCCTCCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCC TCCCTGCCCTCCCCACTCTCCCTCCACCCTCCCTCCCCACCCTCCCTGTC CTCCATCCTCCCTCCCCACCCTCCCTCCCTCCACCCTCCCTGCCTTCCAC TCTCCCTCCCTCCCCTCCACCCTCCTTACCTTCTACCCTCCCTCCCCACT CTCCCTCCCTCCACCCTCCCTGCACTCCACC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(650): Show ATAGTATATATAGTATATAGTATATATAGGATATATAGGATATAGAGTAT ATATAGGATATATCCCTCCTATATATACTCTATAGTATATATAGTATATA TAGTATATATACTCTATAGTATATATAGTATATATACTATATATACTCTA TAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTATA GAGTATATATAGTATATATACTATAGAGTATATATAGTATATATACTATA GAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTATATGTACTATATAGTACATATAGTATATATACTA TATGTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	439	0.0023	657	c.-16 others(668): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGGATATA TAGGATATAGAGTATATATAGGATATATCCCTCCTATATATACTCTATAG TATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATAT ACTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATAT AGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATAT AGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATAT AGTATATATACTATAGAGTATATATAGTATATATACTATAGAGTATATAT AGTATATATACTATAGAGTATATATAGTATATATACTATAGAGTATATAT AGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTAT AGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTAT AGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTAT AGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTAT AGTATATATAGTATATATAGTATATATACTATATGTACTATATAGTACAT ATAGTATATATACTATATGTACT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR2T1_chr1_248398048_248413020	248404195	C C	CGTGTGTG others(650): Show CGTGTGTGTGCGTGTGTATAAAATGGGAGTAACCGTGAACAGACAGCAGA GGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAA CAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTATAAAATGGGA GTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATACGTGTGTGTGT ATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCTATTACATATA CGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGCCGC TATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGC AGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTGTGTGTGTGTC TGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCAGAGGCTATTA CATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAGACAGCAGAGG CTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGA GAGCAGAGGGCGCTATTACACATACGTGTGTGTATAAAATGGGAGTAACC GTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGTGTGTGTGTGT GTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02055.hp2 others(7): Show HG01261.hp2 HG01891.hp2 HG02055.hp2 HG02486.hp1 HG02717.hp1 HG03471.hp1 HG03579.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0043 a0001c0001t0002g0167 a0001c0001t0002g0005 a0001c0001t0002g0043 a0001c0001t0002g0167	10	266	0.0376	657	c.-34 others(672): Show c.-34+959_-34+960insCGTGTGTATAAAATGGGAGTAACCGTGAAC AGACAGCAGAGGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAG TAAGCGTGAACAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTA TAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATAC GTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCT ATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAG CAGAGGCCGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTG AACAGACAGCAGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTG TGTGTGTGTCTGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCA GAGGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAG ACAGCAGAGGCTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAG CGTGAACAGAGAGCAGAGGGCGCTATTACACATACGTGTGTGTATAAAAT GGGAGTAACCGTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTG	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T1_chr1_248398048_248413020	248404195	C C	CGTGTGTG others(650): Show CGTGTGTGTGCGTGTGTATAAAATGGGAGTAACCGTGAACAGACAGCAGA GGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAA CAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTATAAAATGGGA GTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATACGTGTGTGTGT ATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCTATTACATATA CGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGCCGC TATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGC AGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTGTGTGTGTGTC TGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCAGAGGCTATTA CATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAGACAGCAGAGG CTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGA GAGCAGAGGGCGCTATTACACATATGTGTGTGTATAAAATGGGAGTAACC GTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGTGTGTGTGTGT GTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	266	0.0038	657	c.-34 others(672): Show c.-34+959_-34+960insCGTGTGTATAAAATGGGAGTAACCGTGAAC AGACAGCAGAGGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAG TAAGCGTGAACAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTA TAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATAC GTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCT ATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAG CAGAGGCCGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTG AACAGACAGCAGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTG TGTGTGTGTCTGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCA GAGGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAG ACAGCAGAGGCTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAG CGTGAACAGAGAGCAGAGGGCGCTATTACACATATGTGTGTGTATAAAAT GGGAGTAACCGTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTG	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(650): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACACATATAACATGTATTACATATATGTAATACA CATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0001 a0001c0001t0039g0001	1	400	0.0025	657	c.70 others(668): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACACATATAACATGTATTA CATATATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(650): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATGTATTACATATATGTAATACA TATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	400	0.0025	657	c.70 others(668): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PERM1_chr1_970198_987093	976843	C C	CAACCCCG others(650): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCC CCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	408	0.0025	657	c.215 others(674): Show c.2150-220_2150-219insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGT TGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTCGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar

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Search Results (Total: 10000 hits)