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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CSK_chr15_74777080_74808197	74794138	CAAGGGGT others(158): Show CAAGGGGTCCTCACCACCCCCACCCTCACAGCTTACAGTCCACAGGAGGC AGGGGCAAGGGGTCCCCGCCACCCCCACCCTCACAGCTTACAGTCCACAG GAGGCAGGGGCAAGGGGTCCCCGCCACCCCCACCCCCACAGCTTACAGTC CACAGGAGGCAGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp1 others(100): Show HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02615.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp1 HG03225.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18943.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp1 NA18995.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19055.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0008 a0001c0002t0013 others(1): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0013 a0001c0003t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0030 others(48): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0030 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0008g0156 a0001c0002t0008g0159 a0001c0002t0013g0166 a0001c0003t0001g0004 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0025 a0001c0003t0001g0031 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0063 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0111	103	394	0.2614	-165	c.-65 others(17): Show c.-65-4085_-65-3921del		CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74794150	ACCACCCC others(158): Show ACCACCCCCACCCTCACAGCTTACAGTCCACAGGAGGCAGGGGCAAGGGG TCCCCGCCACCCCCACCCTCACAGCTTACAGTCCACAGGAGGCAGGGGCA AGGGGTCCCCGCCACCCCCACCCCCACAGCTTACAGTCCACAGGAGGCAG GGGTAAGGGGTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02258.hp2 others(17): Show HG01496.hp1 HG01884.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 NA18906.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0004t0004 a0001c0004t0007 others(1): Show a0001c0001t0001 a0001c0004t0004 a0001c0004t0007 a0002c0006t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0004t0004g0018 others(11): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0004t0004g0018 a0001c0004t0004g0019 a0001c0004t0004g0149 a0001c0004t0004g0150 a0001c0004t0004g0152 a0001c0004t0004g0153 a0001c0004t0007g0148 a0001c0004t0007g0151 a0002c0006t0001g0144 a0002c0006t0001g0145 a0002c0006t0001g0146 a0002c0006t0001g0147	20	394	0.0508	-165	c.-65 others(17): Show c.-65-4070_-65-3906del		CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
CTBP1_chr4_1206445_1254130	1240290	GGGGGGAC others(158): Show GGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGTCGGAA CCGCGTGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGT CGGAACCGCGTGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCC CTCGTCGGAACCGCGT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02451.hp2 HG02647.hp2 others(14): Show HG01255.hp1 HG02451.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03516.hp1 HG03579.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18954.hp2 NA18960.hp1 NA18980.hp2 NA19002.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0021 a0001c0001t0001 a0001c0001t0006 a0001c0001t0021	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0017 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0084 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0184 a0001c0001t0001g0342 a0001c0001t0006g0132 a0001c0001t0021g0352	17	422	0.0403	-165	c.7+8 others(12): Show c.7+870_7+1034del		CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	2/9						chr4	TogoVar
DBNDD1_chr16_89999871_90024456	90003433	CGGTGGGA others(158): Show CGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGC ACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCTACCTTTA CATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTAC CTTTATATGCACGTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	412	0.0024	-165	c.27 others(11): Show c.2737_*2901del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1437		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003460	CGGCCCGG others(158): Show CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCC TCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGA TTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTC TGTGACTCCCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00735.hp2 others(20): Show HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01192.hp2 HG01975.hp2 HG01978.hp1 HG02083.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02976.hp1 HG03831.hp2 HG04199.hp2 NA18953.hp2 NA18971.hp1 NA18979.hp2 NA19054.hp1 NA19057.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(18): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0002g0261 a0001c0001t0003g0014 a0001c0001t0008g0057 a0001c0001t0010g0162 a0001c0001t0016g0115 a0001c0002t0001g0003 a0001c0002t0001g0021	23	412	0.0558	-165	c.27 others(11): Show c.2710_*2874del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1410		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003491	TGGGACTT others(158): Show TGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCTACCTTTACATGCACG TGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATAT GCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTT TACGTGCACGTGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02717.hp2 HG02895.hp1 others(1): Show HG02145.hp2 HG02717.hp2 HG02895.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0012 a0001c0001t0001 a0001c0001t0002 a0002c0003t0012	a0001c0001t0001g0128 a0001c0001t0002g0038 a0002c0003t0012g0025 a0001c0001t0001g0128 a0001c0001t0002g0038 a0002c0003t0012g0025	4	412	0.0097	-165	c.26 others(11): Show c.2679_*2843del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1379		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003525	TACCTTTA others(158): Show TACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCC CGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCC TGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCC TCCCCCGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01168.hp1 others(24): Show HG00558.hp2 HG00673.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01257.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02293.hp2 HG02300.hp2 NA18946.hp2 NA18947.hp1 NA18953.hp1 NA18964.hp1 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19002.hp1 NA19067.hp1 NA19072.hp2 NA19081.hp1 NA19083.hp1 NA19089.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0017 others(14): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0263 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0004g0002 a0001c0001t0004g0245 a0001c0001t0004g0262 a0001c0001t0004g0269 a0001c0001t0004g0281	27	412	0.0655	-165	c.26 others(11): Show c.2645_*2809del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1345		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003546	TGGGACTT others(158): Show TGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACG TGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGT GCACGTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTT TACGTGCACGTGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	412	0.0024	-165	c.26 others(11): Show c.2624_*2788del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1324		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003570	CGGCCCGG others(158): Show CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGA CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02572.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0109 a0001c0001t0001g0110	2	412	0.0049	-165	c.26 others(11): Show c.2600_*2764del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1300		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003580	TACCTTTA others(158): Show TACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCC CGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCCTCCCC CGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	412	0.0024	-165	c.25 others(11): Show c.2590_*2754del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1290		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003735	TGGCCCGG others(158): Show TGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGATTCCCTCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0115 a0001c0001t0016g0115	1	412	0.0024	-165	c.24 others(11): Show c.2435_*2599del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1135		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003886	GTGATTCC others(158): Show GTGATTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01978.hp1 HG02976.hp1 others(2): Show HG00735.hp1 HG01978.hp1 HG02976.hp1 NA18942.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0006 a0001c0001t0001g0094 a0001c0001t0001g0100 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0002g0270 a0001c0001t0008g0057	5	412	0.0121	-165	c.22 others(11): Show c.2284_*2448del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					984		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004206	TGGGACTT others(158): Show TGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACG TGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTT TACGTGCACGTGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	412	0.0024	-165	c.19 others(11): Show c.1964_*2128del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					664		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004261	TGGGACTT others(158): Show TGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTT TACGTGCACGTGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02976.hp2 HG02055.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0164 a0001c0001t0001g0165	2	412	0.0049	-165	c.19 others(11): Show c.1909_*2073del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					609		chr16	TogoVar
DGKB_chr7_14140049_14907751	14212094	ACTCTCAT others(158): Show ACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGT GTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	148	0.0068	-165	c.212 others(21): Show c.2123-34108_2123-33944del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DLGAP2_chr8_732628_1713476	1024243	CCCCGTGC others(158): Show CCCCGTGCCGAGGCAGACACCCCAGCCACCACCCACCCTCCCTGGGGGTG GACAGTCCCGTGCCGAGGCAGACACCCCAGCCACCACCCACCCTCCCTGG GGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTC CCTGGGGGTGGACAGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0031 a0003c0005t0002g0031	1	40	0.0250	-165	c.73+ others(19): Show c.73+116304_73+116468del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1461361	GCAGTCAC others(158): Show GCAGTCACTGATTTGGTGGCCAGGAGGAGGGAGAAGGGCGGCGTTCAGGT TGGGAGAAGGTGCTGCTGTCACAGGACTGGGTGCAGTCGCTGATTCGGTG ACCAGGAGGAGGGAGAAGGGTGGCATTTGGGTTGGGAGAAGGTGCTGCTG TCACGTGGGCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	-165	c.107 others(19): Show c.107-39999_107-39835del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32783089	ATATATGG others(158): Show ATATATGGTGTATATATACACACACACCATATGTATATACATATATGTAT ATATATATACCATATATATAGATATATGGCATATACACACATATATACCA TATATGTATACATATACACATATGTGTATATACGTGTATACGTATATACA CATATGTGTATATACG	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19060.hp1 NA19066.hp1 others(1): Show NA18982.hp1 NA19060.hp1 NA19066.hp1 NA19070.hp1	a0001 a0007 a0016 others(1): Show a0001 a0007 a0016 a0025	a0001c0002 a0007c0019 a0016c0028 others(1): Show a0001c0002 a0007c0019 a0016c0028 a0025c0039	a0001c0002t0013 a0007c0019t0001 a0016c0028t0005 others(1): Show a0001c0002t0013 a0007c0019t0001 a0016c0028t0005 a0025c0039t0003	a0001c0002t0013g0097 a0007c0019t0001g0061 a0016c0028t0005g0028 others(1): Show a0001c0002t0013g0097 a0007c0019t0001g0061 a0016c0028t0005g0028 a0025c0039t0003g0075	4	126	0.0318	-165	c.649 others(19): Show c.649+26239_649+26403del		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78						chrX	TogoVar
DNAJA3_chr16_4420868_4461775	4457346	TGAACTTC others(158): Show TGAACTTCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCATGCCTGACCAAAATTTTTATGTATTATA GTTTGGCTACTCTGGGTTCCCAGCCACGCTCTATGCCTGGCGTGGCTAGA GGGGCCCTGATACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	345	0.0029	-165	c.18 others(11): Show c.1815_*1979del		DNAJA3	ENSG00000103423.14	transcript	ENST00000262375.11	protein_coding					572		chr16	TogoVar
DPYSL4_chr10_132181948_132210759	132191682	ATGTTCCC others(158): Show ATGTTCCCAGCTCGTGTGTACACGCTGGTCACGTGGTATCCAGGCAGGTG AAAGTATGTTCCCACCTCTTGTGTACACACTGGTCACGTGGTATCCAGGC AGGTGCAAATAGTTCCCAGCTCGTGTGTACACACTGGTCACGTGGTATCC AGGCAGTTGAAAGTAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	418	0.0024	-165	c.128 others(15): Show c.128+848_129-811del		DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13						chr10	TogoVar
EBF3_chr10_129830233_129969274	129930327	CTATATCT others(158): Show CTATATCTATATCTGTCTATATCTATCTCTATATTAACAAATCCCCCTCT CATATACCTATATCTATACCTGTCTATATCTATCTCTATACTAACAAATC CCCCTCTCATATATCTGTATCTATATCTGTCTATGTCTATCTCTATATTA ACAAATCCCCCTCTCA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02723.hp1 HG03471.hp2 others(1): Show HG01175.hp2 HG02723.hp1 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0025 a0001c0001t0048	a0001c0001t0001g0190 a0001c0001t0004g0098 a0001c0001t0025g0333 others(1): Show a0001c0001t0001g0190 a0001c0001t0004g0098 a0001c0001t0025g0333 a0001c0001t0048g0321	4	338	0.0118	-165	c.554 others(19): Show c.554+26766_554+26930del		EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16						chr10	TogoVar
EML1_chr14_99788413_99947060	99928009	TGGTGGTG others(158): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGAGGT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00621.hp1 others(35): Show HG00408.hp1 HG00423.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01261.hp2 HG01975.hp2 HG02015.hp1 HG02040.hp1 HG02132.hp1 HG02523.hp1 HG03654.hp1 NA18747.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18974.hp1 NA18977.hp1 NA18983.hp2 NA18984.hp1 NA18999.hp1 NA18999.hp2 NA19009.hp2 NA19011.hp1 NA19064.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19091.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0001 a0002c0006 a0003c0002 others(1): Show a0002c0001 a0002c0006 a0003c0002 a0005c0009	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(5): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0006t0002 a0002c0006t0003 a0003c0002t0002 a0003c0002t0003 a0005c0009t0002	a0002c0001t0001g0216 a0002c0001t0001g0219 a0002c0001t0001g0267 others(35): Show a0002c0001t0001g0216 a0002c0001t0001g0219 a0002c0001t0001g0267 a0002c0001t0002g0018 a0002c0001t0002g0038 a0002c0001t0002g0039 a0002c0001t0002g0045 a0002c0001t0002g0057 a0002c0001t0002g0063 a0002c0001t0002g0065 a0002c0001t0002g0067 a0002c0001t0002g0068 a0002c0001t0002g0069 a0002c0001t0002g0072 a0002c0001t0002g0073 a0002c0001t0002g0099 a0002c0001t0002g0118 a0002c0001t0002g0136 a0002c0001t0002g0153 a0002c0001t0002g0157 a0002c0001t0002g0160 a0002c0001t0002g0165 a0002c0001t0002g0177 a0002c0001t0002g0178 a0002c0001t0002g0179 a0002c0001t0002g0183 a0002c0001t0002g0196 a0002c0001t0002g0227 a0002c0001t0002g0276 a0002c0001t0003g0139 a0002c0001t0003g0147 a0002c0006t0002g0128 a0002c0006t0002g0148 a0002c0006t0003g0076 a0003c0002t0002g0162 a0003c0002t0002g0211 a0003c0002t0003g0230 a0005c0009t0002g0132	38	288	0.1319	-165	c.190 others(19): Show c.1909+7206_1909+7370del		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
ENOSF1_chr18_665318_717630	667346	AGATGGTG others(158): Show AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGTGATGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGA TGGAGATGGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	418	0.0024	-165	c.67 others(11): Show c.6794_*6958del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2971		chr18	TogoVar
ERICH1_chr8_659200_736224	675231	GCCCCTCG others(158): Show GCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAG AGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	378	0.0027	-165	c.305 others(17): Show c.305-1349_305-1185del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675405	CGAGGACA others(158): Show CGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	378	0.0027	-165	c.305 others(17): Show c.305-1523_305-1359del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	676088	GTGAGGAC others(158): Show GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGA GGCGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19043.hp1 HG02886.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0253 a0001c0003t0001g0224 a0001c0001t0002g0253 a0001c0003t0001g0224	2	378	0.0053	-165	c.305 others(17): Show c.305-2206_305-2042del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	695492	TCTCCTCT others(158): Show TCTCCTCTCCTTCCTCCCCATCAGCCTGCACCTGTGCTTGCTCCTCTCGC CCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCCTGTGCTGGCTCCT CTCGCCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCACCTGTGCTTG CTCCTCTCGCCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp2 others(226): Show HG00099.hp1 HG00140.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0013 a0003c0004 a0006c0008 a0009c0012 a0010c0015 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0009t0001 a0001c0013t0001 a0003c0004t0001 a0006c0008t0001 a0009c0012t0001 a0010c0015t0001 a0011c0010t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(217): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0012 a0001c0001t0002g0254 a0001c0001t0002g0290 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0003g0108 a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0144 a0001c0002t0002g0265 a0001c0002t0002g0270 a0001c0002t0002g0279 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0347 a0001c0002t0005g0243 a0001c0003t0001g0218 a0001c0003t0002g0252 a0001c0003t0004g0229 a0001c0009t0001g0120 a0001c0009t0001g0234 a0001c0013t0001g0210 a0003c0004t0001g0078 a0006c0008t0001g0131 a0006c0008t0001g0179 a0009c0012t0001g0119 a0010c0015t0001g0084 a0011c0010t0002g0356	229	378	0.6058	-165	c.170 others(17): Show c.170-3045_170-2881del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
EXOC4_chr7_133248078_134070761	133857160	ATATATAT others(158): Show ATATATATATATATATATATATATATATATATATATATATATTTTACCTC TACTTAACCTCCCTGGATGATTGTCTTAGTGTCACATATATATATATATA TATATATATATATACACGTATATATATATATATATATACACGTATATATA TATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	1	102	0.0098	-165	c.173 others(21): Show c.1735-38353_1735-38189del		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM171A1_chr10_15206643_15376289	15229645	TCACCATC others(158): Show TCACCATCATCACCATTGTCACCCCCATCACCATCATCACCATCACCACC ATCACCATCATCATCATCACCACCATCACCATCATCACCATCACCCCCAT CACCATCATCACCATCACCACCATCACCATCATCACCATCACCACCATCA CCATCATCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00639.hp1 others(39): Show HG00544.hp2 HG00609.hp1 HG00639.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02698.hp2 HG02738.hp1 HG03688.hp1 HG04199.hp2 NA18747.hp1 NA18945.hp1 NA18951.hp2 NA18955.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18983.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19070.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0006t0001 a0001c0006t0002 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0144 others(39): Show a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0239 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0068 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0003g0273 a0001c0001t0003g0288 a0001c0001t0003g0292 a0001c0001t0021g0037 a0001c0004t0001g0214 a0001c0004t0002g0116 a0001c0004t0003g0253 a0001c0004t0003g0254 a0001c0004t0003g0255 a0001c0004t0003g0256 a0001c0004t0003g0257 a0001c0004t0003g0258 a0001c0004t0003g0277 a0001c0006t0001g0202 a0001c0006t0001g0231 a0001c0006t0002g0054 a0002c0002t0001g0236 a0002c0002t0003g0275	42	303	0.1386	-165	c.755 others(17): Show c.755-8750_755-8586del		FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7						chr10	TogoVar
FOXN3_chr14_89151177_89422233	89361113	TCCACCAC others(158): Show TCCACCACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCAC TACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCA CCTCCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACC ACCACCACCACCTCCA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0182 a0001c0001t0073g0182	1	230	0.0044	-165	c.544 others(19): Show c.544-10470_544-10306del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241807533	TCCCCCCT others(158): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	314	0.0032	-165	c.33 others(11): Show c.3368_*3532del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3247		chr2	TogoVar
GDF1_chr19_18863545_18901158	18886091	GCTGCCAG others(158): Show GCTGCCAGACACCAAATTCAAGGGCTATGCTCTGGACGGGCACGGTGGCT CATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGAGAGTTGCTTG AGTCCAGGAGTTCGAGACCAGCCTGGACAACATGGTGAGACGCTGTCTCT GCAAAAAAATATATAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp2 NA18906.hp1 HG03130.hp2 NA18522.hp2 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0002 a0006c0008t0002 a0001c0001t0002 a0006c0008t0002	a0001c0001t0002g0240 a0001c0001t0002g0326 a0006c0008t0002g0309 a0001c0001t0002g0240 a0001c0001t0002g0326 a0006c0008t0002g0309	3	380	0.0079	-165	c.-91 others(19): Show c.-913-1989_-913-1825del		GDF1	ENSG00000130283.9	transcript	ENST00000247005.8	protein_coding	2/7						chr19	TogoVar
GOLGA3_chr12_132763914_132833869	132817257	ACCTCCAC others(158): Show ACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGG TGAACCCGCCCTCCACACCTCCACGCTCTAAGGTGAACCCGCCCTCCACA CCTCCACACTCTAAGGTGAACCCGCCCTCCACACCTCCACACTCTAACGT GAACCCGCCCTCCACT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0113 a0001c0001t0037g0113	1	308	0.0033	-165	c.134 others(15): Show c.134-610_134-446del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817708	CCGCCCTC others(158): Show CCGCCCTCCACACCTCCACGCTCTAAGGTGAACCCACCCTCCACACCTCC ACGCTCTAAGGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGTGAACC CGCACTCCACACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCA CGCTCTAAGGTGAACT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0159 a0001c0003t0004g0159	1	308	0.0033	-165	c.134 others(16): Show c.134-1061_134-897del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23						chr12	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129668	CCATATCT others(158): Show CCATATCTTCTCCTCCTGCTCTCGTATCTTCTCCTTCTGCTCCCGTATCT TCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCCTCCGCATCTTCTCCTGT TCTTGCATCTTCTCTTCCTGCTCCCCCATCTTCTCTTCCTGTTCCTGCAT CATCTCCTCCTGCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03239.hp2 HG03239.hp2	a0053 a0053	a0053c0042 a0053c0042	a0053c0042t0001 a0053c0042t0001	a0053c0042t0001g0077 a0053c0042t0001g0077	1	204	0.0049	-165	c.162 others(9): Show c.1620_1784del	p.Glu others(13): Show p.Glu541_Trp595del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1875/3822	1620/2007	540/668			chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466049	GAGGAGAA others(158): Show GAGGAGAAGATGTGGAAGCAGGAGGAGAAGATAAGGGAGCAGGAGGAGAA GATACGGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATACGAG AGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGGGGGAGCAGGAA GAGAAGATGCAAGAAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02132.hp2 HG02132.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0001 a0023c0036t0001	a0023c0036t0001g0001 a0023c0036t0001g0001	1	226	0.0044	-165	c.180 others(9): Show c.1801_1965del	p.Trp others(13): Show p.Trp601_Met655del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1892/4401	1801/2565	601/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GTPBP4_chr10_983434_1024932	1015381	TCTGAGCC others(158): Show TCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGG ACCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCG CTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGG GCTGGGGTCCTGAGCG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02451.hp2 others(21): Show HG01243.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0005c0007 others(1): Show a0001c0001 a0001c0002 a0005c0007 a0007c0010	a0001c0001t0003 a0001c0002t0003 a0001c0002t0023 others(2): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0023 a0005c0007t0003 a0007c0010t0003	a0001c0001t0003g0161 a0001c0002t0003g0009 a0001c0002t0003g0010 others(15): Show a0001c0001t0003g0161 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0158 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0023g0159 a0001c0002t0023g0160 a0005c0007t0003g0300 a0005c0007t0003g0301 a0007c0010t0003g0157	24	370	0.0649	-165	c.160 others(17): Show c.1609-358_1609-194del		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
HCN2_chr19_584881_622159	604046	GCGGGGCT others(158): Show GCGGGGCTATAATGGTGCATGGGTGGGGCCAAGGCAGCAGGGGTGGGGCT ATGAGAGATCTGGGTGGGGTCAAGGCCCCAGGGGTGGGGCTATGGGAGAT CTGGGTGGGGTCAAGGCCCCAGGGATGGGGCTATGAGAGATCTGAGTGGG GTCAAGGCCCCAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0004 a0001c0023t0004	a0001c0023t0004g0247 a0001c0023t0004g0247	1	408	0.0025	-165	c.105 others(16): Show c.1056+80_1056+244del		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7						chr19	TogoVar
IDI2_chr10_1013910_1030859	1015381	TCTGAGCC others(158): Show TCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGG ACCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCG CTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGG GCTGGGGTCCTGAGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02451.hp2 others(20): Show HG01243.hp2 HG02145.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0004 a0001c0011t0004 a0001c0001t0004 a0001c0011t0004	a0001c0001t0004g0011 a0001c0001t0004g0038 a0001c0001t0004g0068 others(12): Show a0001c0001t0004g0011 a0001c0001t0004g0038 a0001c0001t0004g0068 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0155 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0004g0179 a0001c0011t0004g0109	23	434	0.0530	-165	c.39 others(11): Show c.3971_*4135del		IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding					3528		chr10	TogoVar
ITGB3BP_chr1_63435770_63528225	63473801	GTCAGCCC others(158): Show GTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	374	0.0027	-165	c.254 others(17): Show c.254+4798_254+4962del		ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8						chr1	TogoVar
ITIH2_chr10_7698316_7754520	7738009	ATATTATA others(158): Show ATATTATATATTATATTCTATATATTATATATTATATTCTATATATTATA TATTATATTCTATATATTATATATTATATTCTATATATTATATATTATAT TCTATATATTATATATTATATTCTATATATTATATATTATATTCTATATA TTATATATTATATTCT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18945.hp2 NA18991.hp1 HG01070.hp2 NA18945.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0216 a0001c0002t0001g0295 a0001c0002t0001g0339 a0001c0001t0001g0216 a0001c0002t0001g0295 a0001c0002t0001g0339	3	380	0.0079	-165	c.195 others(17): Show c.1958-611_1958-447del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
KBTBD11_chr8_1968677_2011936	1990437	ATGCTGCG others(158): Show ATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCTGGGACTTGG CGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGA TGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGC GCCCTGTCCGGGTAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00735.hp2 others(10): Show HG00099.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01261.hp1 HG01515.hp2 HG02738.hp1 HG03490.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0022 others(1): Show a0001c0001t0009 a0001c0001t0016 a0001c0001t0022 a0001c0001t0060	a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0033 others(10): Show a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0033 a0001c0001t0009g0034 a0001c0001t0009g0361 a0001c0001t0009g0362 a0001c0001t0009g0363 a0001c0001t0009g0365 a0001c0001t0009g0366 a0001c0001t0016g0179 a0001c0001t0022g0177 a0001c0001t0022g0178 a0001c0001t0060g0358	13	389	0.0334	-165	c.-90 others(19): Show c.-908-9815_-908-9651del		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1990833	GTGCTGCG others(158): Show GTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGG CGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGA TGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGC GCCCTGTCCGGGTAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(152): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0001c0003 a0006c0011 others(2): Show a0001c0001 a0001c0003 a0006c0011 a0007c0005 a0008c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0052 a0001c0001t0056 a0001c0001t0059 a0001c0003t0001 a0006c0011t0043 a0007c0005t0001 a0008c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0020 others(147): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0331 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0097 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0201 a0001c0001t0003g0242 a0001c0001t0003g0254 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0348 a0001c0001t0005g0194 a0001c0001t0006g0051 a0001c0001t0007g0186 a0001c0001t0007g0189 a0001c0001t0007g0227 a0001c0001t0007g0252 a0001c0001t0010g0008 a0001c0001t0010g0157 a0001c0001t0010g0205 a0001c0001t0010g0210 a0001c0001t0010g0259 a0001c0001t0017g0049 a0001c0001t0020g0009 a0001c0001t0021g0015 a0001c0001t0026g0128 a0001c0001t0026g0129 a0001c0001t0027g0069 a0001c0001t0027g0070 a0001c0001t0029g0329 a0001c0001t0035g0342 a0001c0001t0036g0235 a0001c0001t0037g0162 a0001c0001t0039g0232 a0001c0001t0040g0141 a0001c0001t0041g0330 a0001c0001t0047g0214 a0001c0001t0052g0147 a0001c0001t0056g0364 a0001c0001t0059g0040 a0001c0003t0001g0188 a0001c0003t0001g0231 a0006c0011t0043g0122 a0007c0005t0001g0213 a0008c0004t0001g0135	155	389	0.3985	-165	c.-90 others(19): Show c.-908-9419_-908-9255del		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1990899	GTGCTGCG others(158): Show GTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGG CGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGA TGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCCGGGCCTTGGC GCCCTGTCCGGGTAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0334 a0001c0001t0044g0334	1	389	0.0026	-165	c.-90 others(19): Show c.-908-9346_-908-9182del		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNIP4_chr4_20723606_21953772	20931872	GATAATAG others(158): Show GATAATAGTCTATAAGAGTCTAATATTGTAGACTATAATAGTCTATAACA GTCTAATATTGTAGACTATAATAGTCTATAACAGTCTAATATTGTAGACT ATAATAGTCTATAACAGTCTAATATTGTAGACTATAATAGTCTATAACAG TCTAATATTGTAGACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG03579.hp2 HG02055.hp2 HG02451.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0001t0002 a0001c0002t0001 a0001c0002t0005	a0001c0001t0002g0020 a0001c0002t0001g0073 a0001c0002t0005g0062 a0001c0001t0002g0020 a0001c0002t0001g0073 a0001c0002t0005g0062	3	80	0.0375	-165	c.62- others(17): Show c.62-49328_62-49164del		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KIF3C_chr2_25921598_25987497	25962779	TATATATA others(158): Show TATATATATAATATATATTATATAATATATAATATATATAATATATAAAA TATATAAAATATATAATATATAATATAATATATAATATATATAATATATA AAATATATATAATATAAAATATATATAATATATAATATATATAATATATA ATACATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0171 a0001c0003t0004g0171	1	240	0.0042	-165	c.154 others(19): Show c.1546-6500_1546-6336del		KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	1/7						chr2	TogoVar
LAMA2_chr6_128878138_129521566	129286659	TATATATA others(158): Show TATATATAATAATATATAATATATTATATTTATATAATATATATAATAAT ATATAATATATTATATAATATATTATATAATATATAATAATATATAATAT ATTATATAATATATAATAATATATAATATATTATATAATATATAATAATA TATAATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02809.hp1 others(2): Show HG02559.hp1 HG02572.hp1 HG02809.hp1 HG03139.hp2 NA18906.hp1	a0005 a0006 a0021 others(1): Show a0005 a0006 a0021 a0023	a0005c0009 a0006c0007 a0006c0017 others(2): Show a0005c0009 a0006c0007 a0006c0017 a0021c0023 a0023c0014	a0005c0009t0001 a0006c0007t0002 a0006c0017t0007 others(2): Show a0005c0009t0001 a0006c0007t0002 a0006c0017t0007 a0021c0023t0002 a0023c0014t0005	a0005c0009t0001g0019 a0006c0007t0002g0009 a0006c0017t0007g0025 others(2): Show a0005c0009t0001g0019 a0006c0007t0002g0009 a0006c0017t0007g0025 a0021c0023t0002g0086 a0023c0014t0005g0062	5	88	0.0568	-165	c.253 others(18): Show c.2538-1159_2538-995del		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LMF1_chr16_848634_975984	858969	GTGTCACG others(158): Show GTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGT GTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGAGTGGTGTCA CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGATGTCTCGG GACGGGTGTGCACTGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0046 a0007c0046	a0007c0046t0004 a0007c0046t0004	a0007c0046t0004g0036 a0007c0046t0004g0036	1	294	0.0034	-165	c.153 others(19): Show c.1530-4428_1530-4264del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LRPAP1_chr4_3498612_3537422	3509503	TTGAGACG others(158): Show TTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGTTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGTTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02622.hp1 others(6): Show HG02055.hp2 HG02257.hp1 HG02622.hp1 HG02717.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0009 a0001c0001t0107 a0001c0019t0009 a0001c0001t0009 a0001c0001t0107 a0001c0019t0009	a0001c0001t0009g0003 a0001c0001t0107g0171 a0001c0019t0009g0306 a0001c0001t0009g0003 a0001c0001t0107g0171 a0001c0019t0009g0306	9	420	0.0214	-165	c.33 others(11): Show c.3306_*3470del		LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8				3306		chr4	TogoVar
LRRC27_chr10_132327193_132386508	132358790	AGTGTGGG others(158): Show AGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGCTGGT GGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCC GAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGG GAGGAGCCAAGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0001 a0001c0007t0007g0001	1	290	0.0035	-165	c.117 others(19): Show c.1171-2665_1171-2501del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar

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