Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DGCR2_chr22_19031286_19127412	19063086	T T	TCCATGTC TCCATGTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(181): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003	a0001c0001t0050 a0002c0002t0002 a0002c0002t0003 others(34): Show a0001c0001t0050 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0022 a0002c0002t0025 a0002c0002t0031 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0002t0041 a0002c0002t0042 a0002c0002t0046 a0002c0002t0047 a0002c0005t0020 a0002c0005t0043 a0002c0005t0044 a0002c0005t0045 a0003c0003t0007 a0003c0003t0008 a0003c0003t0012 a0003c0003t0026 a0003c0003t0027 a0003c0003t0028	a0001c0001t0050g0334 a0002c0002t0002g0006 a0002c0002t0002g0133 others(174): Show a0001c0001t0050g0334 a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0183 a0002c0002t0002g0190 a0002c0002t0003g0002 a0002c0002t0003g0003 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0048 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0004g0075 a0002c0002t0004g0076 a0002c0002t0004g0078 a0002c0002t0004g0079 a0002c0002t0004g0080 a0002c0002t0004g0083 a0002c0002t0004g0089 a0002c0002t0004g0090 a0002c0002t0004g0091 a0002c0002t0004g0092 a0002c0002t0004g0093 a0002c0002t0004g0094 a0002c0002t0004g0096 a0002c0002t0004g0097 a0002c0002t0004g0098 a0002c0002t0004g0099 a0002c0002t0004g0101 a0002c0002t0004g0103 a0002c0002t0004g0108 a0002c0002t0004g0109 a0002c0002t0006g0001 a0002c0002t0006g0179 a0002c0002t0006g0181 a0002c0002t0006g0184 a0002c0002t0006g0185 a0002c0002t0006g0186 a0002c0002t0006g0187 a0002c0002t0006g0188 a0002c0002t0006g0189 a0002c0002t0009g0005 a0002c0002t0009g0074 a0002c0002t0009g0084 a0002c0002t0009g0085 a0002c0002t0009g0086 a0002c0002t0009g0104 a0002c0002t0009g0105 a0002c0002t0009g0106 a0002c0002t0009g0126 a0002c0002t0011g0326 a0002c0002t0011g0327 a0002c0002t0011g0328 a0002c0002t0011g0329 a0002c0002t0011g0330 a0002c0002t0011g0331 a0002c0002t0011g0332 a0002c0002t0011g0333 a0002c0002t0013g0004 a0002c0002t0013g0077 a0002c0002t0013g0081 a0002c0002t0013g0082 a0002c0002t0013g0102 a0002c0002t0014g0039 a0002c0002t0014g0040 a0002c0002t0014g0041 a0002c0002t0014g0042 a0002c0002t0017g0146 a0002c0002t0017g0160 a0002c0002t0017g0178 a0002c0002t0017g0180 a0002c0002t0018g0140 a0002c0002t0018g0150 a0002c0002t0018g0158 a0002c0002t0018g0182 a0002c0002t0019g0087 a0002c0002t0019g0088 a0002c0002t0019g0100 a0002c0002t0022g0069 a0002c0002t0022g0071 a0002c0002t0025g0145 a0002c0002t0025g0171 a0002c0002t0031g0063 a0002c0002t0033g0107 a0002c0002t0034g0047 a0002c0002t0035g0095 a0002c0002t0036g0056 a0002c0002t0037g0064 a0002c0002t0038g0061 a0002c0002t0039g0110 a0002c0002t0040g0049 a0002c0002t0041g0166 a0002c0002t0042g0152 a0002c0002t0046g0324 a0002c0002t0047g0325 a0002c0005t0020g0135 a0002c0005t0020g0136 a0002c0005t0020g0191 a0002c0005t0043g0138 a0002c0005t0044g0137 a0002c0005t0045g0139 a0003c0003t0007g0012 a0003c0003t0007g0015 a0003c0003t0007g0020 a0003c0003t0007g0026 a0003c0003t0007g0027 a0003c0003t0007g0028 a0003c0003t0007g0033 a0003c0003t0007g0034 a0003c0003t0007g0036 a0003c0003t0007g0037 a0003c0003t0008g0010 a0003c0003t0008g0011 a0003c0003t0008g0019 a0003c0003t0008g0021 a0003c0003t0008g0023 a0003c0003t0008g0024 a0003c0003t0008g0030 a0003c0003t0008g0031 a0003c0003t0008g0032 a0003c0003t0008g0038 a0003c0003t0012g0013 a0003c0003t0012g0014 a0003c0003t0012g0016 a0003c0003t0012g0017 a0003c0003t0012g0018 a0003c0003t0012g0025 a0003c0003t0012g0029 a0003c0003t0026g0009 a0003c0003t0027g0035 a0003c0003t0028g0022	184	344	0.5349	7	c.625 others(22): Show c.625+115_625+116insGACATGG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR8_chr22_20075241_20116872	20104846	C C	CGAGGGCA CGAGGGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp1 others(20): Show HG00099.hp1 HG00140.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01981.hp1 HG02735.hp1 HG03239.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0011 a0001c0001t0028 a0001c0001t0037 others(9): Show a0001c0001t0011 a0001c0001t0028 a0001c0001t0037 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0003c0003t0011 a0003c0003t0074 a0003c0003t0079	a0001c0001t0011g0010 a0001c0001t0011g0027 a0001c0001t0011g0035 others(15): Show a0001c0001t0011g0010 a0001c0001t0011g0027 a0001c0001t0011g0035 a0001c0001t0011g0066 a0001c0001t0011g0070 a0001c0001t0011g0071 a0001c0001t0028g0010 a0001c0001t0037g0010 a0001c0001t0037g0067 a0001c0001t0075g0068 a0001c0001t0076g0027 a0001c0001t0077g0027 a0001c0001t0078g0065 a0001c0001t0080g0069 a0001c0001t0081g0035 a0003c0003t0011g0036 a0003c0003t0074g0073 a0003c0003t0079g0072	23	419	0.0549	7	c.178 others(26): Show c.1789-1326_1789-1320dupGCAGAGG	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
DGCR8_chr22_20075241_20116872	20104859	G G	GCTGCCCT GCTGCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp1 others(20): Show HG00099.hp1 HG00140.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01981.hp1 HG02735.hp1 HG03239.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0011 a0001c0001t0028 a0001c0001t0037 others(9): Show a0001c0001t0011 a0001c0001t0028 a0001c0001t0037 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0003c0003t0011 a0003c0003t0074 a0003c0003t0079	a0001c0001t0011g0010 a0001c0001t0011g0027 a0001c0001t0011g0035 others(15): Show a0001c0001t0011g0010 a0001c0001t0011g0027 a0001c0001t0011g0035 a0001c0001t0011g0066 a0001c0001t0011g0070 a0001c0001t0011g0071 a0001c0001t0028g0010 a0001c0001t0037g0010 a0001c0001t0037g0067 a0001c0001t0075g0068 a0001c0001t0076g0027 a0001c0001t0077g0027 a0001c0001t0078g0065 a0001c0001t0080g0069 a0001c0001t0081g0035 a0003c0003t0011g0036 a0003c0003t0074g0073 a0003c0003t0079g0072	23	419	0.0549	7	c.178 others(26): Show c.1789-1312_1789-1311insTCTGCCC	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
DGKB_chr7_14140049_14907751	14265318	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp1 others(67): Show HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01255.hp2 HG01952.hp2 HG01978.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG03942.hp2 HG04204.hp1 NA18612.hp2 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19081.hp1 NA19081.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0012 a0001c0013 a0001c0016 a0002c0005 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0013 a0001c0002t0029 a0001c0002t0030 a0001c0002t0034 a0001c0002t0038 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0013 a0001c0003t0015 a0001c0003t0018 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0026 a0001c0006t0008 a0001c0006t0019 a0001c0009t0009 a0001c0012t0003 a0001c0013t0017 a0001c0016t0001 a0002c0005t0011 a0003c0010t0033	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 others(67): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0001g0129 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0143 a0001c0001t0003g0051 a0001c0001t0004g0142 a0001c0001t0007g0037 a0001c0001t0007g0121 a0001c0001t0007g0132 a0001c0001t0008g0123 a0001c0001t0020g0097 a0001c0001t0021g0029 a0001c0001t0023g0122 a0001c0002t0001g0033 a0001c0002t0001g0052 a0001c0002t0003g0001 a0001c0002t0003g0003 a0001c0002t0003g0055 a0001c0002t0003g0058 a0001c0002t0003g0069 a0001c0002t0003g0135 a0001c0002t0009g0064 a0001c0002t0013g0104 a0001c0002t0029g0002 a0001c0002t0030g0092 a0001c0002t0034g0014 a0001c0002t0038g0093 a0001c0003t0001g0006 a0001c0003t0001g0054 a0001c0003t0002g0028 a0001c0003t0002g0063 a0001c0003t0002g0116 a0001c0003t0003g0094 a0001c0003t0004g0009 a0001c0003t0004g0083 a0001c0003t0005g0016 a0001c0003t0005g0073 a0001c0003t0005g0124 a0001c0003t0005g0130 a0001c0003t0008g0011 a0001c0003t0013g0066 a0001c0003t0015g0086 a0001c0003t0018g0061 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0085 a0001c0004t0001g0108 a0001c0004t0001g0127 a0001c0004t0002g0112 a0001c0004t0004g0113 a0001c0004t0004g0118 a0001c0004t0026g0138 a0001c0006t0008g0080 a0001c0006t0019g0144 a0001c0009t0009g0125 a0001c0012t0003g0015 a0001c0013t0017g0084 a0001c0016t0001g0039 a0002c0005t0011g0062 a0002c0005t0011g0079 a0003c0010t0033g0007	70	148	0.4730	7	c.212 others(28): Show c.2122+73190_2122+73196dupAAAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14508813	A A	ATCTAGTG ATCTAGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02723.hp1 others(3): Show HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02897.hp2 HG03209.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0015	a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 others(3): Show a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 a0001c0004t0027 a0001c0014t0001 a0001c0015t0032	a0001c0002t0003g0072 a0001c0002t0029g0002 a0001c0003t0001g0006 others(3): Show a0001c0002t0003g0072 a0001c0002t0029g0002 a0001c0003t0001g0006 a0001c0004t0027g0059 a0001c0014t0001g0018 a0001c0015t0032g0019	6	148	0.0405	7	c.177 others(28): Show c.1771-30595_1771-30589dupCACTAGA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	20/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14695494	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00609.hp1 others(39): Show HG00280.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG01167.hp2 HG01169.hp1 HG01515.hp1 HG01952.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03471.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18960.hp2 NA18968.hp1 NA18988.hp1 NA18993.hp1 NA19002.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0023 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0022 a0001c0002t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0013 a0001c0003t0014 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0010 a0001c0004t0027 a0001c0006t0008 a0001c0006t0019 a0001c0009t0002 a0001c0009t0009 a0002c0007t0006	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0044 others(39): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0109 a0001c0001t0002g0119 a0001c0001t0002g0143 a0001c0001t0004g0142 a0001c0001t0007g0121 a0001c0001t0023g0122 a0001c0001t0028g0095 a0001c0002t0001g0053 a0001c0002t0003g0001 a0001c0002t0003g0069 a0001c0002t0022g0013 a0001c0002t0040g0068 a0001c0003t0001g0006 a0001c0003t0002g0063 a0001c0003t0013g0066 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0004t0001g0026 a0001c0004t0001g0040 a0001c0004t0002g0115 a0001c0004t0003g0049 a0001c0004t0003g0067 a0001c0004t0005g0023 a0001c0004t0010g0100 a0001c0004t0027g0059 a0001c0006t0008g0080 a0001c0006t0019g0144 a0001c0009t0002g0082 a0001c0009t0009g0125 a0002c0007t0006g0030 a0002c0007t0006g0041	42	148	0.2838	7	c.592 others(24): Show c.592-1307_592-1301dupAAAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	8/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14769228	G G	GAGAAGAA GAGAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18906.hp1 HG02145.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0036 a0001c0009t0002 a0001c0003t0036 a0001c0009t0002	a0001c0003t0036g0050 a0001c0009t0002g0082 a0001c0003t0036g0050 a0001c0009t0002g0082	2	148	0.0135	7	c.71- others(24): Show c.71-11498_71-11497insTTCTTCT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14792730	G G	GCATAATC GCATAATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp1 others(74): Show HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01515.hp2 HG01978.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp2 NA18968.hp1 NA18984.hp1 NA18988.hp2 NA19002.hp2 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19081.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0012 a0001c0016 a0001c0017 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 a0001c0001t0023 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0022 a0001c0002t0030 a0001c0002t0031 a0001c0002t0034 a0001c0002t0038 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0035 a0001c0003t0036 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0010 a0001c0004t0026 a0001c0006t0004 a0001c0006t0008 a0001c0006t0019 a0001c0009t0002 a0001c0012t0003 a0001c0016t0001 a0001c0017t0024 a0002c0005t0006 a0002c0005t0011	a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0091 others(74): Show a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0091 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0004g0142 a0001c0001t0007g0037 a0001c0001t0007g0132 a0001c0001t0021g0029 a0001c0001t0023g0122 a0001c0001t0041g0147 a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0096 a0001c0002t0002g0128 a0001c0002t0002g0137 a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0027 a0001c0002t0003g0058 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0003g0081 a0001c0002t0003g0135 a0001c0002t0012g0120 a0001c0002t0022g0013 a0001c0002t0030g0092 a0001c0002t0031g0008 a0001c0002t0034g0014 a0001c0002t0038g0093 a0001c0003t0001g0006 a0001c0003t0001g0054 a0001c0003t0001g0087 a0001c0003t0001g0136 a0001c0003t0002g0063 a0001c0003t0003g0094 a0001c0003t0004g0009 a0001c0003t0004g0012 a0001c0003t0004g0083 a0001c0003t0005g0057 a0001c0003t0005g0073 a0001c0003t0005g0124 a0001c0003t0008g0011 a0001c0003t0009g0004 a0001c0003t0013g0066 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0003t0015g0086 a0001c0003t0035g0126 a0001c0003t0036g0050 a0001c0004t0001g0026 a0001c0004t0001g0035 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0002g0115 a0001c0004t0002g0131 a0001c0004t0004g0113 a0001c0004t0004g0118 a0001c0004t0010g0100 a0001c0004t0026g0138 a0001c0006t0004g0145 a0001c0006t0008g0080 a0001c0006t0019g0144 a0001c0009t0002g0082 a0001c0012t0003g0015 a0001c0016t0001g0039 a0001c0017t0024g0146 a0002c0005t0006g0139 a0002c0005t0011g0062 a0002c0005t0011g0079	77	148	0.5203	7	c.71- others(24): Show c.71-35006_71-35000dupGATTATG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233438731	T T	TTTTTTTA TTTTTTTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG00673.hp2 others(43): Show HG00621.hp2 HG00673.hp1 HG00673.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA18951.hp1 NA18983.hp1 NA18991.hp2 NA19043.hp1 NA19075.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011	a0001c0001t0006 a0001c0001t0024 a0001c0001t0039 others(18): Show a0001c0001t0006 a0001c0001t0024 a0001c0001t0039 a0001c0001t0042 a0001c0002t0003 a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0003t0019 a0001c0004t0013 a0001c0004t0014 a0001c0004t0021 a0001c0004t0022 a0001c0004t0023 a0001c0004t0041 a0001c0004t0044 a0001c0004t0045 a0001c0004t0046 a0001c0004t0048 a0001c0004t0049 a0001c0011t0002	a0001c0001t0006g0002 a0001c0001t0006g0175 a0001c0001t0006g0176 others(41): Show a0001c0001t0006g0002 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0024g0077 a0001c0001t0024g0134 a0001c0001t0039g0186 a0001c0001t0042g0135 a0001c0002t0003g0102 a0001c0003t0002g0088 a0001c0003t0004g0246 a0001c0003t0004g0247 a0001c0003t0007g0080 a0001c0003t0007g0081 a0001c0003t0007g0082 a0001c0003t0007g0083 a0001c0003t0007g0084 a0001c0003t0007g0274 a0001c0003t0019g0079 a0001c0003t0019g0086 a0001c0004t0013g0091 a0001c0004t0013g0128 a0001c0004t0014g0160 a0001c0004t0014g0162 a0001c0004t0014g0164 a0001c0004t0021g0121 a0001c0004t0021g0122 a0001c0004t0022g0001 a0001c0004t0023g0156 a0001c0004t0023g0157 a0001c0004t0041g0161 a0001c0004t0044g0166 a0001c0004t0045g0197 a0001c0004t0046g0243 a0001c0004t0048g0204 a0001c0004t0049g0163 a0001c0011t0002g0089	46	336	0.1369	7	c.108 others(24): Show c.1085+357_1085+358insTATTTTT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKG_chr3_186142201_186367234	186194803	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01070.hp2 others(5): Show HG00280.hp2 HG01070.hp1 HG01070.hp2 HG01256.hp1 HG03704.hp2 NA18969.hp1 NA18990.hp1 NA18999.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0002c0005 others(2): Show a0001c0002 a0002c0001 a0002c0005 a0003c0004 a0003c0006	a0001c0002t0003 a0001c0002t0008 a0002c0001t0001 others(4): Show a0001c0002t0003 a0001c0002t0008 a0002c0001t0001 a0002c0005t0020 a0003c0004t0013 a0003c0006t0004 a0003c0006t0013	a0001c0002t0003g0211 a0001c0002t0008g0214 a0002c0001t0001g0147 others(5): Show a0001c0002t0003g0211 a0001c0002t0008g0214 a0002c0001t0001g0147 a0002c0005t0020g0041 a0003c0004t0013g0124 a0003c0006t0004g0032 a0003c0006t0004g0043 a0003c0006t0013g0021	8	234	0.0342	7	c.191 others(26): Show c.1918-6431_1918-6425dupTTTTTTT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	21/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186237220	G G	GTCTTCTT GTCTTCTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03453.hp1 HG01256.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0010 a0001c0003t0005 a0001c0002t0010 a0001c0003t0005	a0001c0002t0010g0161 a0001c0003t0005g0108 a0001c0002t0010g0161 a0001c0003t0005g0108	2	234	0.0086	7	c.182 others(26): Show c.1826+5277_1826+5283dupAAGAAGA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186277137	A A	AGATTGAT AGATTGAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01256.hp1 others(3): Show HG00738.hp1 HG01081.hp2 HG01256.hp1 HG01258.hp1 HG01515.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0002c0001t0002 a0002c0001t0004 others(1): Show a0001c0002t0003 a0002c0001t0002 a0002c0001t0004 a0002c0001t0005	a0001c0002t0003g0211 a0001c0002t0003g0212 a0002c0001t0002g0100 others(3): Show a0001c0002t0003g0211 a0001c0002t0003g0212 a0002c0001t0002g0100 a0002c0001t0004g0101 a0002c0001t0005g0062 a0002c0001t0005g0082	6	234	0.0256	7	c.793 others(24): Show c.793-1480_793-1474dupATCAATC	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	9/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186348451	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02717.hp2 others(6): Show HG01109.hp1 HG02109.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03225.hp2 HG03579.hp1 HG06807.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0002 a0001c0003 a0004c0008 others(2): Show a0001c0002 a0001c0003 a0004c0008 a0005c0011 a0007c0016	a0001c0002t0003 a0001c0002t0046 a0001c0003t0003 others(4): Show a0001c0002t0003 a0001c0002t0046 a0001c0003t0003 a0001c0003t0016 a0004c0008t0023 a0005c0011t0003 a0007c0016t0003	a0001c0002t0003g0180 a0001c0002t0046g0174 a0001c0003t0003g0176 others(6): Show a0001c0002t0003g0180 a0001c0002t0046g0174 a0001c0003t0003g0176 a0001c0003t0003g0179 a0001c0003t0016g0175 a0004c0008t0023g0182 a0005c0011t0003g0177 a0005c0011t0003g0178 a0007c0016t0003g0181	9	234	0.0385	7	c.-24 others(28): Show c.-249+13488_-249+13494dupAAAAAAA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42087044	A A	ACACACAC ACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG04228.hp1 NA18965.hp2 HG02135.hp1 HG04228.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0065 a0001c0001t0002 a0001c0001t0023 a0001c0001t0065	a0001c0001t0002g0052 a0001c0001t0023g0067 a0001c0001t0065g0046 a0001c0001t0002g0052 a0001c0001t0023g0067 a0001c0001t0065g0046	3	316	0.0095	7	c.192 others(26): Show c.192+38079_192+38080insCACACAC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	1/29			chr13	TogoVar
DGKH_chr13_42043648_42247896	42197267	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(66): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG03017.hp2 HG03492.hp2 HG03834.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19074.hp1 NA19084.hp2 NA20905.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0011 a0012	a0001c0002 a0001c0004 a0002c0005 others(4): Show a0001c0002 a0001c0004 a0002c0005 a0006c0017 a0007c0019 a0011c0028 a0012c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(21): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0023 a0001c0002t0075 a0001c0002t0094 a0001c0002t0095 a0001c0002t0096 a0001c0002t0101 a0001c0004t0047 a0001c0004t0055 a0002c0005t0001 a0002c0005t0003 a0002c0005t0007 a0002c0005t0008 a0002c0005t0037 a0002c0005t0104 a0006c0017t0041 a0007c0019t0047 a0011c0028t0001 a0012c0030t0019	a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0044 others(66): Show a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0108 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0180 a0001c0002t0001g0184 a0001c0002t0001g0191 a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0001g0283 a0001c0002t0002g0019 a0001c0002t0004g0169 a0001c0002t0012g0049 a0001c0002t0012g0073 a0001c0002t0012g0203 a0001c0002t0019g0126 a0001c0002t0019g0171 a0001c0002t0021g0098 a0001c0002t0021g0125 a0001c0002t0023g0120 a0001c0002t0075g0176 a0001c0002t0094g0103 a0001c0002t0095g0060 a0001c0002t0096g0306 a0001c0002t0101g0183 a0001c0004t0047g0097 a0001c0004t0055g0185 a0002c0005t0001g0053 a0002c0005t0001g0104 a0002c0005t0001g0106 a0002c0005t0001g0113 a0002c0005t0001g0114 a0002c0005t0001g0117 a0002c0005t0001g0119 a0002c0005t0001g0137 a0002c0005t0001g0192 a0002c0005t0001g0268 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0274 a0002c0005t0001g0291 a0002c0005t0003g0116 a0002c0005t0003g0118 a0002c0005t0007g0045 a0002c0005t0007g0099 a0002c0005t0007g0123 a0002c0005t0007g0128 a0002c0005t0007g0134 a0002c0005t0007g0136 a0002c0005t0007g0159 a0002c0005t0007g0258 a0002c0005t0008g0290 a0002c0005t0037g0292 a0002c0005t0104g0237 a0006c0017t0041g0122 a0007c0019t0047g0100 a0011c0028t0001g0054 a0012c0030t0019g0088	69	316	0.2184	7	c.216 others(26): Show c.2168-1208_2168-1207insAAAGAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137649954	C C	CCAACAAT CCAACAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03098.hp1 HG03209.hp2 others(2): Show HG01243.hp1 HG03098.hp1 HG03209.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 others(2): Show a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011	a0001c0002t0014 a0001c0003t0035 a0001c0007t0005 others(2): Show a0001c0002t0014 a0001c0003t0035 a0001c0007t0005 a0001c0008t0022 a0001c0011t0001	a0001c0002t0014g0035 a0001c0003t0035g0028 a0001c0007t0005g0066 others(2): Show a0001c0002t0014g0035 a0001c0003t0035g0028 a0001c0007t0005g0066 a0001c0008t0022g0026 a0001c0011t0001g0040	5	94	0.0532	7	c.739 others(24): Show c.739-4424_739-4418dupATTGTTG	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	5/32			chr7	TogoVar
DGKK_chrX_50360409_50475825	50395797	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03471.hp1 HG03486.hp1 HG02970.hp1 HG03471.hp1 HG03486.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0023 a0005c0008t0003g0169 a0005c0008t0003g0196 a0005c0008t0003g0023 a0005c0008t0003g0169 a0005c0008t0003g0196	3	248	0.0121	7	c.141 others(26): Show c.1412-2469_1412-2463dupTTTTTTT	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	8/27			chrX	TogoVar
DGLUCY_chr14_91109073_91230632	91207161	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02280.hp1 others(11): Show HG01891.hp2 HG02258.hp1 HG02280.hp1 HG02647.hp1 HG02723.hp1 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 NA18522.hp1 NA19043.hp1 NA21309.hp2	a0001 a0003 a0010 others(2): Show a0001 a0003 a0010 a0013 a0018	a0001c0001 a0003c0003 a0010c0012 others(2): Show a0001c0001 a0003c0003 a0010c0012 a0013c0014 a0018c0023	a0001c0001t0001 a0003c0003t0001 a0010c0012t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0010c0012t0001 a0013c0014t0001 a0018c0023t0002	a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0059 others(11): Show a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0097 a0001c0001t0001g0200 a0003c0003t0001g0020 a0010c0012t0001g0188 a0010c0012t0001g0191 a0013c0014t0001g0164 a0013c0014t0001g0175 a0018c0023t0002g0203	14	216	0.0648	7	c.156 others(26): Show c.1564+2346_1564+2352dupAAAAAAA	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHCR24_chr1_54844627_54892195	54879352	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01069.hp2 others(15): Show HG00423.hp1 HG00642.hp2 HG01069.hp2 HG01255.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02074.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02683.hp2 HG03195.hp2 NA18747.hp2 NA18944.hp2 NA18955.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0001t0001 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0008 a0001c0001t0001g0251 a0001c0001t0001g0252 others(11): Show a0001c0001t0001g0008 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0002t0003g0269 a0001c0002t0003g0271	18	386	0.0466	7	c.388 others(24): Show c.388-3306_388-3305insCTTTTTT	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	2/8			chr1	TogoVar
DHRS12_chr13_51762993_51809163	51787902	A A	AATTATAT AATTATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18972.hp1 NA19001.hp1 others(6): Show NA18971.hp1 NA18972.hp1 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19056.hp2 NA19064.hp1 NA19079.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0001g0095 a0001c0001t0001g0096 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0302 a0001c0001t0003g0004	9	420	0.0214	7	c.301 others(24): Show c.301+2108_301+2109insATATAAT	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	4/8			chr13	TogoVar
DHRS3_chr1_12562910_12623210	12617788	T T	TAAAAAAA TAAAAAAA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG02486.hp1 others(6): Show HG01928.hp1 HG01928.hp2 HG02486.hp1 NA18940.hp1 NA18969.hp1 NA18989.hp1 NA19080.hp2 NA19084.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0032 a0001c0002t0015 others(2): Show a0001c0001t0015 a0001c0001t0032 a0001c0002t0015 a0001c0002t0059 a0001c0002t0075	a0001c0001t0015g0083 a0001c0001t0015g0084 a0001c0001t0015g0086 others(6): Show a0001c0001t0015g0083 a0001c0001t0015g0084 a0001c0001t0015g0086 a0001c0001t0015g0088 a0001c0001t0032g0085 a0001c0001t0032g0089 a0001c0002t0015g0087 a0001c0002t0059g0090 a0001c0002t0075g0224	9	376	0.0239	7	c.-44 others(16): Show c.-447_-441dupTTTTTTT	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding	1/6	441		chr1	TogoVar
DHRS4L2_chr14_23983929_24011403	24001957	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03710.hp1 NA20752.hp1 HG02683.hp2 HG03710.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021	3	32	0.0938	7	c.665 others(22): Show c.665+450_665+456dupTTTTTTT	DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRS4_chr14_23948770_23974279	23953569	C C	CGCTTTGA CGCTTTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01071.hp1 HG01081.hp1 others(62): Show HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01346.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01993.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0000 a0002 a0003 others(3): Show a0000 a0002 a0003 a0005 a0010 a0011	a0000c0008 a0002c0002 a0002c0005 others(8): Show a0000c0008 a0002c0002 a0002c0005 a0002c0015 a0002c0017 a0003c0007 a0003c0013 a0003c0014 a0005c0010 a0010c0016 a0011c0025	a0000c0008t0012 a0002c0002t0004 a0002c0002t0007 others(13): Show a0000c0008t0012 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0013 a0002c0005t0007 a0002c0005t0009 a0002c0015t0004 a0002c0017t0007 a0003c0007t0004 a0003c0007t0011 a0003c0013t0010 a0003c0014t0011 a0005c0010t0007 a0010c0016t0013 a0011c0025t0014	a0000c0008t0012g0044 a0000c0008t0012g0055 a0000c0008t0012g0068 others(46): Show a0000c0008t0012g0044 a0000c0008t0012g0055 a0000c0008t0012g0068 a0002c0002t0004g0005 a0002c0002t0004g0016 a0002c0002t0004g0047 a0002c0002t0004g0048 a0002c0002t0004g0049 a0002c0002t0004g0050 a0002c0002t0004g0051 a0002c0002t0004g0052 a0002c0002t0004g0053 a0002c0002t0004g0056 a0002c0002t0004g0057 a0002c0002t0004g0058 a0002c0002t0004g0059 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0189 a0002c0002t0007g0018 a0002c0002t0007g0037 a0002c0002t0007g0038 a0002c0002t0007g0040 a0002c0002t0007g0041 a0002c0002t0007g0042 a0002c0002t0007g0072 a0002c0002t0007g0073 a0002c0002t0007g0074 a0002c0002t0010g0004 a0002c0002t0010g0045 a0002c0002t0010g0046 a0002c0002t0013g0054 a0002c0005t0007g0070 a0002c0005t0009g0003 a0002c0005t0009g0067 a0002c0005t0009g0069 a0002c0005t0009g0071 a0002c0015t0004g0075 a0002c0017t0007g0043 a0003c0007t0004g0066 a0003c0007t0011g0017 a0003c0007t0011g0062 a0003c0007t0011g0064 a0003c0013t0010g0065 a0003c0014t0011g0063 a0005c0010t0007g0036 a0005c0010t0007g0039 a0010c0016t0013g0035 a0011c0025t0014g0191	65	267	0.2435	7	c.-22 others(16): Show c.-220_-219insGCTTTGA	DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding		200		chr14	TogoVar
DHRS7B_chr17_21121964_21196420	21138066	T T	TTAAAAAA TTAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02074.hp1 HG02615.hp1 others(1): Show HG01167.hp1 HG02074.hp1 HG02615.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0276 a0001c0001t0001g0282 others(1): Show a0001c0001t0001g0192 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0304	4	382	0.0105	7	c.20+ others(24): Show c.20+11075_20+11076insTAAAAAA	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6			chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21140022	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01433.hp1 others(4): Show HG00099.hp2 HG00323.hp1 HG01433.hp1 HG01891.hp2 HG02451.hp2 HG02896.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0149 others(4): Show a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0226 a0001c0003t0001g0373 a0001c0003t0001g0378	7	382	0.0183	7	c.20+ others(24): Show c.20+13045_20+13051dupTTTTTTT	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21141640	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00558.hp1 others(85): Show HG00140.hp1 HG00323.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01891.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG03017.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18982.hp2 NA18987.hp2 NA18989.hp1 NA18993.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19091.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 others(85): Show a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0354 a0002c0005t0001g0274 a0002c0005t0001g0275	88	382	0.2304	7	c.20+ others(24): Show c.20+14649_20+14650insAAAAAAG	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6			chr17	TogoVar
DHRSX_chrX_2214506_2505976	2226695	G G	GGGAAGCT GGGAAGCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02886.hp2 HG01261.hp1 HG02886.hp2	a0005 a0007 a0005 a0007	a0005c0006 a0007c0009 a0005c0006 a0007c0009	a0005c0006t0004 a0007c0009t0013 a0005c0006t0004 a0007c0009t0013	a0005c0006t0004g0034 a0007c0009t0013g0005 a0005c0006t0004g0034 a0007c0009t0013g0005	2	50	0.0400	7	c.805 others(24): Show c.805-5467_805-5466insAGCTTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2227803	G G	GGGAGGAA GGGAGGAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0007 a0010c0015t0007	a0010c0015t0007g0036 a0010c0015t0007g0036	1	50	0.0200	7	c.805 others(24): Show c.805-6575_805-6574insTTCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2227911	A A	AGGAAGGG AGGAAGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0007 a0010c0015t0007	a0010c0015t0007g0036 a0010c0015t0007g0036	1	50	0.0200	7	c.805 others(24): Show c.805-6683_805-6682insCCCTTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2227966	G G	GGGAGGGA GGGAGGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0013 a0007c0009t0013	a0007c0009t0013g0005 a0007c0009t0013g0005	1	50	0.0200	7	c.805 others(24): Show c.805-6744_805-6738dupTCCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2228002	A A	AGGAAGGG AGGAAGGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	50	0.0200	7	c.805 others(24): Show c.805-6774_805-6773insCCCTTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2228020	G G	GGAAGGGA GGAAGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0015 a0006c0013t0015	a0006c0013t0015g0011 a0006c0013t0015g0011	1	50	0.0200	7	c.805 others(24): Show c.805-6792_805-6791insTCCCTTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2228116	G G	GGGAGGGA GGGAGGGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0045 a0002c0002t0003g0045	1	50	0.0200	7	c.805 others(24): Show c.805-6888_805-6887insTCCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2228456	G G	GGGTGGGA GGGTGGGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0035 a0002c0002t0004g0035	1	50	0.0200	7	c.805 others(24): Show c.805-7228_805-7227insTCCCACC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2248432	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02004.hp2 HG02071.hp1 others(3): Show HG01496.hp1 HG02004.hp2 HG02071.hp1 HG02293.hp2 HG02698.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0016 a0002c0002 a0003c0003 a0003c0016	a0002c0002t0002 a0003c0003t0002 a0003c0016t0002 a0002c0002t0002 a0003c0003t0002 a0003c0016t0002	a0002c0002t0002g0016 a0003c0003t0002g0013 a0003c0003t0002g0014 others(3): Show a0002c0002t0002g0016 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040	6	50	0.1200	7	c.597 others(24): Show c.597-5209_597-5203dupTTTTTTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2275343	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0001 a0005c0008t0006g0001	1	50	0.0200	7	c.389 others(24): Show c.389-8403_389-8397dupTTTTTTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2304204	A A	ATGGATGG ATGGATGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0015 a0006c0013t0015	a0006c0013t0015g0011 a0006c0013t0015g0011	1	50	0.0200	7	c.287 others(26): Show c.287-12602_287-12601insCCATCCA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314230	G G	GAGGGAAT GAGGGAAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 NA18943.hp1 HG03130.hp1 NA18522.hp1 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0023 a0001c0001t0001g0037 a0002c0002t0004g0035 a0001c0001t0001g0023 a0001c0001t0001g0037 a0002c0002t0004g0035	3	50	0.0600	7	c.287 others(26): Show c.287-22628_287-22627insATTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314244	A A	AGGGAATG AGGGAATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01496.hp1 others(4): Show HG00280.hp1 HG01167.hp1 HG01496.hp1 HG02004.hp2 HG02071.hp1 HG02698.hp1 HG03130.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0003c0016 a0011c0007	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(3): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 a0003c0016t0002 a0011c0007t0001	a0001c0001t0001g0037 a0002c0002t0002g0016 a0002c0002t0003g0008 others(4): Show a0001c0001t0001g0037 a0002c0002t0002g0016 a0002c0002t0003g0008 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040 a0011c0007t0001g0028	7	50	0.1400	7	c.287 others(26): Show c.287-22642_287-22641insCATTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314362	A A	AGGGAGGG AGGGAGGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03471.hp1 HG02895.hp1 HG03471.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0004 a0004c0004t0005 a0002c0002t0004 a0004c0004t0005	a0002c0002t0004g0031 a0004c0004t0005g0030 a0002c0002t0004g0031 a0004c0004t0005g0030	2	50	0.0400	7	c.287 others(26): Show c.287-22760_287-22759insCCCTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314380	A A	AGGGAGAG AGGGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02630.hp1 others(1): Show HG01261.hp1 HG02055.hp1 HG02630.hp1 HG02922.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0005 a0005c0008 others(1): Show a0001c0001 a0002c0005 a0005c0008 a0007c0009	a0001c0001t0001 a0002c0005t0008 a0005c0008t0006 others(1): Show a0001c0001t0001 a0002c0005t0008 a0005c0008t0006 a0007c0009t0013	a0001c0001t0001g0026 a0002c0005t0008g0010 a0005c0008t0006g0001 others(1): Show a0001c0001t0001g0026 a0002c0005t0008g0010 a0005c0008t0006g0001 a0007c0009t0013g0005	4	50	0.0800	7	c.287 others(26): Show c.287-22778_287-22777insCTCTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2323067	G G	GCGCCAGC GCGCCAGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01261.hp1 others(26): Show HG00280.hp1 HG01167.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02300.hp1 HG02486.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03471.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18943.hp1 NA18948.hp1 NA18952.hp2 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011	a0001c0001 a0002c0002 a0002c0005 others(9): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0003c0016 a0004c0004 a0005c0006 a0005c0008 a0006c0013 a0007c0009 a0008c0010 a0011c0007	a0001c0001t0001 a0001c0001t0012 a0002c0002t0002 others(14): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0005t0004 a0002c0005t0008 a0003c0003t0002 a0003c0016t0002 a0004c0004t0001 a0004c0004t0005 a0005c0006t0004 a0005c0008t0006 a0006c0013t0015 a0007c0009t0013 a0008c0010t0014 a0011c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0023 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0012g0027 a0002c0002t0002g0016 a0002c0002t0003g0002 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0042 a0002c0002t0003g0045 a0002c0002t0003g0050 a0002c0002t0004g0031 a0002c0002t0004g0035 a0002c0005t0004g0004 a0002c0005t0008g0010 a0003c0003t0002g0013 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040 a0004c0004t0001g0048 a0004c0004t0005g0030 a0005c0006t0004g0034 a0005c0008t0006g0001 a0006c0013t0015g0011 a0007c0009t0013g0005 a0008c0010t0014g0046 a0011c0007t0001g0028	29	50	0.5800	7	c.287 others(26): Show c.287-31465_287-31464insGCTGGCG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2331436	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18952.hp2 homoSapiens_chm13v2.hp1 NA18943.hp1 NA18952.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0021 a0001c0001t0001g0023 a0003c0003t0002g0013 a0001c0001t0001g0021 a0001c0001t0001g0023 a0003c0003t0002g0013	3	50	0.0600	7	c.287 others(26): Show c.287-39840_287-39834dupAAAAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2355511	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03098.hp1 HG02293.hp1 HG03098.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0009 a0001c0001t0001 a0004c0004t0009	a0001c0001t0001g0047 a0004c0004t0009g0032 a0001c0001t0001g0047 a0004c0004t0009g0032	2	50	0.0400	7	c.286 others(26): Show c.286+53227_286+53233dupTTTTTTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2460582	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01261.hp1 HG01934.hp1 others(7): Show HG00280.hp1 HG01261.hp1 HG01934.hp1 HG02004.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0002c0002 a0002c0005 others(3): Show a0001c0001 a0002c0002 a0002c0005 a0005c0006 a0006c0013 a0007c0009	a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 a0002c0005t0008 a0005c0006t0004 a0006c0013t0015 a0007c0009t0013	a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0029 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0012g0027 a0002c0002t0003g0008 a0002c0002t0003g0050 a0002c0005t0008g0010 a0005c0006t0004g0034 a0006c0013t0015g0011 a0007c0009t0013g0005	10	50	0.2000	7	c.110 others(26): Show c.110-35285_110-35279dupAAAAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12076995	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp2 HG01175.hp1 others(5): Show HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01516.hp2 HG02071.hp2 HG02293.hp1 HG03831.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0037 a0001c0006t0001	a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0352 others(5): Show a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0352 a0001c0001t0001g0361 a0001c0001t0004g0360 a0001c0001t0018g0357 a0001c0001t0037g0301 a0001c0006t0001g0354	8	374	0.0214	7	c.155 others(24): Show c.155-4477_155-4476insAAAAAAG	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	1/16			chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12091411	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00642.hp1 others(23): Show HG00423.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01192.hp1 HG01243.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02572.hp1 HG02723.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG04199.hp2 NA18522.hp1 NA18947.hp2 NA18975.hp2 NA18979.hp2 NA18992.hp1 NA19009.hp2 NA19012.hp2 NA19066.hp1 NA19070.hp1 NA19090.hp1	a0003 a0003	a0003c0003 a0003c0012 a0003c0003 a0003c0012	a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 others(6): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0003t0007 a0003c0003t0008 a0003c0003t0012 a0003c0003t0028 a0003c0012t0013	a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0178 others(23): Show a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0178 a0003c0003t0002g0180 a0003c0003t0002g0182 a0003c0003t0002g0193 a0003c0003t0002g0195 a0003c0003t0002g0200 a0003c0003t0002g0213 a0003c0003t0003g0186 a0003c0003t0003g0188 a0003c0003t0003g0212 a0003c0003t0003g0353 a0003c0003t0004g0181 a0003c0003t0006g0153 a0003c0003t0006g0169 a0003c0003t0007g0087 a0003c0003t0007g0148 a0003c0003t0007g0219 a0003c0003t0007g0273 a0003c0003t0007g0364 a0003c0003t0008g0035 a0003c0003t0008g0036 a0003c0003t0012g0211 a0003c0003t0028g0215 a0003c0012t0013g0236	26	374	0.0695	7	c.988 others(20): Show c.988-89_988-83dupAAAAAAA	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12100287	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp1 HG01167.hp2 others(10): Show HG00099.hp1 HG00673.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01433.hp1 HG02148.hp2 HG02300.hp2 HG02602.hp1 HG03017.hp2 HG03239.hp1 HG03710.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0024 a0001c0001 a0003c0004 a0003c0024	a0001c0001t0001 a0003c0004t0001 a0003c0004t0008 others(3): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0008 a0003c0004t0015 a0003c0004t0020 a0003c0024t0001	a0001c0001t0001g0335 a0003c0004t0001g0156 a0003c0004t0001g0162 others(10): Show a0001c0001t0001g0335 a0003c0004t0001g0156 a0003c0004t0001g0162 a0003c0004t0001g0163 a0003c0004t0001g0170 a0003c0004t0001g0230 a0003c0004t0008g0166 a0003c0004t0008g0167 a0003c0004t0015g0165 a0003c0004t0015g0171 a0003c0004t0015g0173 a0003c0004t0020g0278 a0003c0024t0001g0164	13	374	0.0348	7	c.175 others(22): Show c.1756+33_1756+39dupTTTTTTT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12127557	G G	GACACCCC GACACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG01081.hp1 others(24): Show HG00544.hp2 HG00558.hp2 HG01081.hp1 HG01175.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02602.hp2 HG03239.hp2 HG03927.hp2 NA18952.hp2 NA18954.hp2 NA18975.hp1 NA18982.hp1 NA18982.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19007.hp1 NA19058.hp1 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0006t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0031 a0003c0003t0005	a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0109 others(24): Show a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 a0001c0001t0001g0311 a0001c0001t0001g0336 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0004g0125 a0001c0001t0004g0139 a0001c0001t0004g0143 a0001c0001t0004g0308 a0001c0001t0004g0340 a0001c0001t0004g0360 a0001c0001t0005g0015 a0001c0001t0005g0222 a0001c0001t0009g0141 a0001c0006t0001g0255 a0001c0006t0001g0261 a0001c0006t0001g0268 a0001c0006t0001g0327 a0001c0006t0001g0355 a0002c0002t0001g0019 a0002c0002t0004g0025 a0002c0002t0004g0057 a0002c0002t0031g0076 a0003c0003t0005g0144	27	374	0.0722	7	c.66 others(18): Show c.6669_*6670insACACCCC	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding		4337		chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12127557	G G	GCCCCCCC GCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01255.hp1 others(13): Show HG00140.hp2 HG00280.hp1 HG01255.hp1 HG01255.hp2 HG01993.hp1 HG02155.hp2 HG02622.hp1 HG02717.hp1 HG02970.hp1 HG03017.hp1 HG03491.hp2 NA18612.hp2 NA18946.hp1 NA18950.hp1 NA19003.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0002c0002 others(2): Show a0001c0001 a0001c0010 a0002c0002 a0002c0019 a0003c0003	a0001c0001t0002 a0001c0001t0022 a0001c0010t0002 others(6): Show a0001c0001t0002 a0001c0001t0022 a0001c0010t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0019t0002 a0003c0003t0002 a0003c0003t0006	a0001c0001t0002g0146 a0001c0001t0002g0318 a0001c0001t0002g0321 others(13): Show a0001c0001t0002g0146 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0363 a0001c0001t0022g0267 a0001c0010t0002g0299 a0002c0002t0001g0172 a0002c0002t0002g0044 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0116 a0002c0002t0003g0031 a0002c0019t0002g0115 a0003c0003t0002g0190 a0003c0003t0006g0155 a0003c0003t0006g0169	16	374	0.0428	7	c.66 others(18): Show c.6669_*6670insCCCCCCC	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding		4337		chr10	TogoVar

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