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
GSTP1_chr11_67578812_67591653	67583354	TAAAATAA TAAAATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02486.hp2 HG03225.hp2 others(2): Show HG02280.hp1 HG02486.hp2 HG03225.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	5	392	0.0128	-7	c.-48 others(16): Show c.-489_-483delAAAATAA	GSTP1	ENSG00000084207.18	transcript	ENST00000398606.10	protein_coding		457		chr11	TogoVar
GTDC1_chr2_143933068_144337512	144133144	TATATATA TATATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp2 HG03540.hp2 HG02717.hp2 HG02976.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0003 a0001c0001t0005 a0001c0003t0003	a0001c0001t0005g0090 a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0001t0005g0090 a0001c0003t0003g0107 a0001c0003t0003g0108	3	124	0.0242	-7	c.521 others(24): Show c.521+8731_521+8737delTATATAT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144133421	TATATATA TATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01358.hp2 HG02809.hp2 others(9): Show HG00408.hp2 HG01358.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03017.hp1 HG03139.hp1 HG03579.hp2 NA18960.hp2 NA18964.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 a0002c0005t0001 a0005c0012t0003	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0032 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0003g0100 a0002c0002t0002g0005 a0002c0002t0006g0061 a0002c0002t0009g0036 a0002c0005t0001g0029 a0002c0005t0001g0086 a0005c0012t0003g0120	12	124	0.0968	-7	c.521 others(24): Show c.521+8454_521+8460delTATATAT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144145983	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01975.hp2 HG02896.hp2 others(5): Show HG00408.hp1 HG01975.hp2 HG02896.hp2 HG04204.hp1 NA18964.hp2 NA18980.hp1 NA19068.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0002c0005t0001	a0001c0001t0004g0016 a0001c0001t0007g0024 a0001c0001t0007g0059 others(5): Show a0001c0001t0004g0016 a0001c0001t0007g0024 a0001c0001t0007g0059 a0001c0001t0011g0074 a0001c0001t0011g0114 a0001c0001t0016g0044 a0001c0001t0017g0028 a0002c0005t0001g0029	8	124	0.0645	-7	c.180 others(22): Show c.180-251_180-245delTTTTTTT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	4/11			chr2	TogoVar
GTF2A1L_chr2_48612856_48684604	48653920	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(141): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19062.hp1 NA19063.hp2 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0002c0006 others(3): Show a0001c0001 a0002c0002 a0002c0006 a0002c0014 a0003c0004 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0006t0001 a0002c0014t0001 a0003c0004t0001 a0008c0009t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(130): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0321 a0001c0001t0002g0260 a0001c0001t0005g0129 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0098 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0159 a0002c0002t0001g0171 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0256 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0006t0001g0091 a0002c0006t0001g0093 a0002c0006t0001g0094 a0002c0014t0001g0195 a0003c0004t0001g0063 a0003c0004t0001g0080 a0008c0009t0001g0152	144	344	0.4186	-7	c.978 others(24): Show c.978+6895_978+6901delAAAAAAA	GTF2A1L	ENSG00000242441.8	transcript	ENST00000403751.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
GTF2B_chr1_88847633_88896567	88856284	AAAAAAAC AAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp2 HG02647.hp1 others(4): Show HG01167.hp1 HG02451.hp2 HG02647.hp1 HG02647.hp2 HG02976.hp1 HG03579.hp1 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0002 a0001c0001t0002 a0002c0005t0002	a0001c0001t0002g0117 a0001c0001t0002g0188 a0001c0001t0002g0224 others(4): Show a0001c0001t0002g0117 a0001c0001t0002g0188 a0001c0001t0002g0224 a0001c0001t0002g0336 a0001c0001t0002g0343 a0001c0001t0002g0346 a0002c0005t0002g0118	7	372	0.0188	-7	c.817 others(22): Show c.817+915_817+921delGTTTTTT	GTF2B	ENSG00000137947.12	transcript	ENST00000370500.10	protein_coding	6/6			chr1	TogoVar
GTF2B_chr1_88847633_88896567	88882310	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02922.hp1 HG03209.hp2 others(6): Show HG01975.hp1 HG02922.hp1 HG03209.hp2 HG03927.hp1 NA18966.hp1 NA18969.hp2 NA19064.hp2 NA19082.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0003	a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0002g0090 others(6): Show a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0002g0090 a0001c0001t0003g0092 a0001c0001t0003g0173 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0004t0003g0176 a0001c0004t0003g0177	9	372	0.0242	-7	c.124 others(24): Show c.124+4944_124+4950delTTTTTTT	GTF2B	ENSG00000137947.12	transcript	ENST00000370500.10	protein_coding	2/6			chr1	TogoVar
GTF2E2_chr8_30573318_30663236	30646979	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(90): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02738.hp2 HG03471.hp1 HG03490.hp2 HG03540.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0252 a0001c0001t0002g0325 a0001c0001t0011g0354	93	378	0.2460	-7	c.166 others(24): Show c.166+6447_166+6453delTTTTTTT	GTF2E2	ENSG00000197265.9	transcript	ENST00000355904.9	protein_coding	2/7			chr8	TogoVar
GTF2F2_chr13_45115510_45289893	45223262	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG01891.hp2 others(34): Show HG01109.hp2 HG01361.hp1 HG01891.hp2 HG01934.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03688.hp1 HG06807.hp2 NA18906.hp2 NA18954.hp1 NA18962.hp1 NA18982.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(34): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032	37	210	0.1762	-7	c.386 others(26): Show c.386+15775_386+15781delAAAAAAA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H1_chr11_18317567_18372045	18370416	CAAAAAAA CAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02723.hp1 others(7): Show HG02258.hp2 HG02280.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0279 a0001c0001t0003g0011 a0001c0001t0003g0045 others(4): Show a0001c0001t0001g0279 a0001c0001t0003g0011 a0001c0001t0003g0045 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203	10	370	0.0270	-7	c.45 others(18): Show c.4548_*4554delAAAAAAA	GTF2H1	ENSG00000110768.12	transcript	ENST00000265963.9	protein_coding		3372		chr11	TogoVar
GTF2H4_chr6_30903207_30919106	30904119	ATTTTTTT ATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01981.hp2 HG01993.hp2 others(24): Show HG01070.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02074.hp1 HG02132.hp2 HG02165.hp2 HG02738.hp1 HG03492.hp2 HG03654.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18960.hp1 NA18970.hp2 NA18980.hp2 NA18987.hp2 NA18999.hp1 NA19007.hp1 NA19009.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19072.hp2 NA19079.hp2 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0002 a0001c0008t0001 a0001c0001t0001 a0001c0002t0002 a0001c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0002t0002g0001 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0002t0002g0001 a0001c0002t0002g0031 a0001c0008t0001g0004	27	411	0.0657	-7	c.-42 others(18): Show c.-4287_-4281delTTTTTTT	GTF2H4	ENSG00000213780.11	transcript	ENST00000259895.9	protein_coding		4087		chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169373	GTATATTA GTATATTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02486.hp2 others(5): Show HG01109.hp1 HG01884.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02965.hp1 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0039 a0001c0001t0104 a0001c0001t0011 a0001c0001t0039 a0001c0001t0104	a0001c0001t0011g0058 a0001c0001t0011g0059 a0001c0001t0011g0061 others(5): Show a0001c0001t0011g0058 a0001c0001t0011g0059 a0001c0001t0011g0061 a0001c0001t0011g0064 a0001c0001t0011g0065 a0001c0001t0039g0062 a0001c0001t0039g0063 a0001c0001t0104g0060	8	384	0.0208	-7	c.-35 others(22): Show c.-35+991_-35+997delTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169672	TTATATAA TTATATAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00738.hp2 others(3): Show HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01099.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0078 a0001c0001t0004 a0001c0001t0015 a0001c0001t0078	a0001c0001t0004g0265 a0001c0001t0015g0023 a0001c0001t0015g0025 others(1): Show a0001c0001t0004g0265 a0001c0001t0015g0023 a0001c0001t0015g0025 a0001c0001t0078g0110	6	384	0.0156	-7	c.-34 others(22): Show c.-34-784_-34-778delATATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169707	GTATATTA GTATATTA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG03209.hp2 HG02886.hp2 HG02970.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0107 a0001c0001t0044 a0001c0001t0107	a0001c0001t0044g0192 a0001c0001t0044g0193 a0001c0001t0107g0073 a0001c0001t0044g0192 a0001c0001t0044g0193 a0001c0001t0107g0073	3	384	0.0078	-7	c.-34 others(22): Show c.-34-751_-34-745delTTATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2IRD2B_chr7_75087590_75154817	75119191	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01123.hp1 others(9): Show HG00733.hp2 HG00741.hp2 HG01123.hp1 HG01258.hp1 HG01346.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG04184.hp1 NA18988.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0088 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0149 a0001c0001t0003g0071 a0001c0001t0012g0003	12	170	0.0706	-7	c.239 others(24): Show c.239-1666_239-1660delAAAAAAA	GTF2IRD2B	ENSG00000174428.19	transcript	ENST00000472837.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74662204	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02886.hp1 others(4): Show HG02145.hp1 HG02615.hp1 HG02886.hp1 HG03098.hp2 HG03540.hp1 NA18949.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0002g0049 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0172	7	174	0.0402	-7	c.-6+ others(22): Show c.-6+4157_-6+4163delTTTTTTT	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74662511	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG02055.hp1 others(17): Show HG00639.hp2 HG01109.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0001c0001t0001 a0001c0001t0006 a0001c0004t0001	a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0064 others(17): Show a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0006g0072 a0001c0004t0001g0082	20	174	0.1149	-7	c.-6+ others(22): Show c.-6+4466_-6+4472delTTTTTTT	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF3C2_chr2_27320854_27361764	27361475	TTTGTTTG TTTGTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 NA18955.hp1 NA18981.hp1 others(7): Show HG01109.hp2 NA18955.hp1 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18990.hp2 NA19000.hp2 NA19076.hp2 NA19079.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0172 others(6): Show a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0221	10	286	0.0350	-7	c.-47 others(18): Show c.-4768_-4762delCAAACAA	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding		4712		chr2	TogoVar
GTPBP2_chr6_43615494_43634264	43634220	CTTTTTTT CTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01515.hp1 HG01517.hp2 others(3): Show HG00639.hp2 HG01515.hp1 HG01517.hp2 HG02074.hp1 HG03834.hp2 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0047 a0001c0002t0003g0010 a0001c0002t0003g0047	6	382	0.0157	-7	c.-50 others(18): Show c.-5065_-5059delAAAAAAA	GTPBP2	ENSG00000172432.19	transcript	ENST00000307126.10	protein_coding		4957		chr6	TogoVar
GTPBP3_chr19_17332553_17347731	17345624	CTTTTTTT CTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00741.hp1 others(42): Show HG00099.hp1 HG00140.hp2 HG00741.hp1 HG01081.hp1 HG01167.hp1 HG01192.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG02027.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG03098.hp1 HG03490.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04228.hp2 NA18940.hp1 NA18940.hp2 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp2 NA19004.hp1 NA19062.hp1 NA19062.hp2 NA20905.hp1 NA20905.hp2	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0003	a0000c0004 a0000c0005 a0000c0007 others(4): Show a0000c0004 a0000c0005 a0000c0007 a0001c0001 a0001c0014 a0002c0002 a0003c0003	a0000c0004t0001 a0000c0005t0001 a0000c0007t0001 others(7): Show a0000c0004t0001 a0000c0005t0001 a0000c0007t0001 a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0014t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001	a0000c0004t0001g0006 a0000c0004t0001g0042 a0000c0005t0001g0001 others(15): Show a0000c0004t0001g0006 a0000c0004t0001g0042 a0000c0005t0001g0001 a0000c0007t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0047 a0001c0001t0002g0006 a0001c0001t0019g0040 a0001c0014t0001g0006 a0002c0002t0001g0001 a0002c0002t0003g0005 a0002c0002t0003g0054 a0003c0003t0001g0001 a0003c0003t0001g0013 a0003c0003t0001g0015 a0003c0003t0001g0016	45	408	0.1103	-7	c.39 others(18): Show c.3922_*3928delTTTTTTT	GTPBP3	ENSG00000130299.17	transcript	ENST00000324894.13	protein_coding		2894		chr19	TogoVar
GTPBP4_chr10_983434_1024932	1011021	GCCAGGCC GCCAGGCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(5): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG01175.hp2 HG01261.hp1 HG01433.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0009c0011	a0001c0001t0001 a0001c0002t0005 a0001c0002t0014 others(3): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0014 a0001c0002t0048 a0002c0003t0007 a0009c0011t0014	a0001c0001t0001g0203 a0001c0002t0005g0016 a0001c0002t0005g0060 others(5): Show a0001c0001t0001g0203 a0001c0002t0005g0016 a0001c0002t0005g0060 a0001c0002t0005g0065 a0001c0002t0014g0115 a0001c0002t0048g0016 a0002c0003t0007g0093 a0009c0011t0014g0118	8	370	0.0216	-7	c.134 others(24): Show c.1344+503_1344+509delCAGGCCC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015685	GCTGAGCA GCTGAGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(362): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 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 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0009 others(10): Show a0001c0001 a0001c0002 a0001c0009 a0001c0012 a0002c0003 a0003c0006 a0004c0005 a0005c0007 a0006c0004 a0007c0010 a0008c0013 a0009c0011 a0010c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0042 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0023 a0001c0002t0025 a0001c0002t0027 a0001c0002t0035 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0047 a0001c0002t0048 a0001c0002t0050 a0001c0009t0034 a0001c0012t0002 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0016 a0002c0003t0020 a0002c0003t0036 a0002c0003t0046 a0002c0003t0049 a0003c0006t0002 a0004c0005t0018 a0005c0007t0003 a0006c0004t0024 a0007c0010t0003 a0008c0013t0002 a0009c0011t0014 a0010c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 others(307): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0002g0278 a0001c0001t0003g0161 a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0038 a0001c0001t0004g0156 a0001c0001t0004g0196 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0277 a0001c0001t0004g0298 a0001c0001t0009g0032 a0001c0001t0009g0174 a0001c0001t0009g0220 a0001c0001t0009g0282 a0001c0001t0010g0029 a0001c0001t0010g0201 a0001c0001t0010g0261 a0001c0001t0010g0297 a0001c0001t0011g0177 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0215 a0001c0001t0011g0280 a0001c0001t0019g0012 a0001c0001t0019g0172 a0001c0001t0021g0235 a0001c0001t0021g0296 a0001c0001t0022g0006 a0001c0001t0026g0195 a0001c0001t0028g0258 a0001c0001t0029g0183 a0001c0001t0030g0227 a0001c0001t0031g0288 a0001c0001t0032g0005 a0001c0001t0033g0267 a0001c0001t0042g0056 a0001c0001t0043g0054 a0001c0002t0001g0190 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0042 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0164 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0019 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0078 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0158 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0005g0014 a0001c0002t0005g0015 a0001c0002t0005g0016 a0001c0002t0005g0017 a0001c0002t0005g0058 a0001c0002t0005g0059 a0001c0002t0005g0060 a0001c0002t0005g0061 a0001c0002t0005g0063 a0001c0002t0005g0065 a0001c0002t0005g0066 a0001c0002t0005g0067 a0001c0002t0005g0068 a0001c0002t0005g0069 a0001c0002t0012g0100 a0001c0002t0012g0101 a0001c0002t0012g0102 a0001c0002t0012g0103 a0001c0002t0013g0020 a0001c0002t0013g0021 a0001c0002t0013g0099 a0001c0002t0014g0004 a0001c0002t0014g0115 a0001c0002t0015g0041 a0001c0002t0015g0305 a0001c0002t0023g0159 a0001c0002t0023g0160 a0001c0002t0025g0022 a0001c0002t0027g0104 a0001c0002t0035g0302 a0001c0002t0037g0082 a0001c0002t0038g0021 a0001c0002t0039g0070 a0001c0002t0040g0165 a0001c0002t0041g0121 a0001c0002t0047g0062 a0001c0002t0048g0016 a0001c0002t0050g0064 a0001c0009t0034g0184 a0001c0012t0002g0169 a0002c0003t0006g0002 a0002c0003t0006g0079 a0002c0003t0006g0081 a0002c0003t0006g0096 a0002c0003t0006g0187 a0002c0003t0007g0075 a0002c0003t0007g0080 a0002c0003t0007g0083 a0002c0003t0007g0090 a0002c0003t0007g0092 a0002c0003t0007g0093 a0002c0003t0007g0094 a0002c0003t0008g0002 a0002c0003t0008g0084 a0002c0003t0008g0086 a0002c0003t0008g0089 a0002c0003t0008g0098 a0002c0003t0008g0303 a0002c0003t0016g0002 a0002c0003t0016g0088 a0002c0003t0016g0097 a0002c0003t0020g0087 a0002c0003t0020g0091 a0002c0003t0036g0085 a0002c0003t0046g0095 a0002c0003t0049g0050 a0003c0006t0002g0023 a0004c0005t0018g0188 a0004c0005t0018g0271 a0005c0007t0003g0300 a0005c0007t0003g0301 a0006c0004t0024g0073 a0006c0004t0024g0074 a0007c0010t0003g0157 a0008c0013t0002g0133 a0009c0011t0014g0118 a0010c0008t0001g0264	365	370	0.9865	-7	c.160 others(22): Show c.1609-61_1609-55delACTGAGC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP6_chrX_299759_323796	321330	AAAAAAAG AAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0028 a0001c0003t0003g0028	1	155	0.0065	-7	c.-25 others(18): Show c.-2550_-2544delCTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2535		chrX	TogoVar
GTPBP6_chrX_299759_323796	321906	AAAAAAAG AAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0046 a0001c0003t0001g0046	1	155	0.0065	-7	c.-31 others(18): Show c.-3126_-3120delCTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3111		chrX	TogoVar
GTPBP6_chrX_299759_323796	322340	CAAAAAAA CAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0027 a0027	a0027c0040 a0027c0040	a0027c0040t0002 a0027c0040t0002	a0027c0040t0002g0148 a0027c0040t0002g0148	1	155	0.0065	-7	c.-35 others(18): Show c.-3560_-3554delTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3545		chrX	TogoVar
GTPBP6_chrX_299759_323796	323678	CGTTGTGT CGTTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0142 a0006c0011t0003g0142	1	155	0.0065	-7	c.-48 others(18): Show c.-4898_-4892delACACAAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4883		chrX	TogoVar
GTSE1_chr22_46291870_46335810	46291962	TTAAAAAA TTAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01433.hp2 HG02258.hp1 others(31): Show HG00639.hp2 HG01433.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0008 a0011 a0012 a0016	a0001c0011 a0002c0002 a0002c0026 others(6): Show a0001c0011 a0002c0002 a0002c0026 a0002c0028 a0005c0007 a0008c0010 a0011c0016 a0012c0027 a0016c0021	a0001c0011t0001 a0002c0002t0001 a0002c0026t0001 others(6): Show a0001c0011t0001 a0002c0002t0001 a0002c0026t0001 a0002c0028t0001 a0005c0007t0001 a0008c0010t0001 a0011c0016t0001 a0012c0027t0001 a0016c0021t0001	a0001c0011t0001g0005 a0001c0011t0001g0029 a0002c0002t0001g0004 others(23): Show a0001c0011t0001g0005 a0001c0011t0001g0029 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0022 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0026t0001g0033 a0002c0028t0001g0036 a0005c0007t0001g0021 a0005c0007t0001g0023 a0005c0007t0001g0024 a0005c0007t0001g0025 a0005c0007t0001g0026 a0005c0007t0001g0027 a0008c0010t0001g0006 a0008c0010t0001g0037 a0011c0016t0001g0020 a0012c0027t0001g0028 a0016c0021t0001g0005	34	200	0.1700	-7	c.-49 others(18): Show c.-4990_-4984delTAAAAAA	GTSE1	ENSG00000075218.19	transcript	ENST00000454366.2	protein_coding		4907		chr22	TogoVar
GUCA1C_chr3_108902792_108958879	108932333	AAAAAAAC AAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG02572.hp1 others(6): Show HG01192.hp1 HG02055.hp1 HG02572.hp1 HG02976.hp2 HG03195.hp2 HG03516.hp1 HG06807.hp2 NA20129.hp1 NA20300.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0007	a0002c0002 a0003c0003 a0004c0005 others(2): Show a0002c0002 a0003c0003 a0004c0005 a0006c0007 a0007c0008	a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 others(2): Show a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0006c0007t0001 a0007c0008t0001	a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0232 others(6): Show a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0232 a0003c0003t0001g0114 a0004c0005t0001g0233 a0004c0005t0001g0234 a0006c0007t0001g0067 a0006c0007t0001g0113 a0007c0008t0001g0069	9	374	0.0241	-7	c.205 others(26): Show c.205-11755_205-11749delGTTTTTT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	1/3			chr3	TogoVar
GUCY1A2_chr11_106669019_107023476	106709603	GTTATATA GTTATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01255.hp2 HG01433.hp2 others(2): Show HG00099.hp1 HG01255.hp2 HG01433.hp2 HG02280.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0006 a0001c0004t0006 a0001c0001t0005 a0001c0001t0006 a0001c0004t0006	a0001c0001t0005g0119 a0001c0001t0006g0149 a0001c0001t0006g0152 others(2): Show a0001c0001t0005g0119 a0001c0001t0006g0149 a0001c0001t0006g0152 a0001c0004t0006g0220 a0001c0004t0006g0226	5	256	0.0195	-7	c.183 others(24): Show c.1837-944_1837-938delTATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106741487	GAGAAGGA GAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(89): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG02027.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02155.hp1 HG02257.hp2 HG02293.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG03017.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18981.hp1 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19064.hp1 NA19079.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0014 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0033 a0001c0001t0041 a0001c0001t0053 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0012 a0001c0002t0021 a0001c0002t0031 a0001c0003t0003 a0001c0003t0018 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0023 a0001c0008t0054 a0001c0008t0070 a0001c0009t0001 a0001c0014t0001 a0001c0015t0068	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 others(89): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0040 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0003g0014 a0001c0001t0003g0062 a0001c0001t0003g0088 a0001c0001t0003g0145 a0001c0001t0005g0095 a0001c0001t0006g0135 a0001c0001t0007g0010 a0001c0001t0007g0144 a0001c0001t0011g0118 a0001c0001t0011g0123 a0001c0001t0011g0131 a0001c0001t0011g0132 a0001c0001t0011g0136 a0001c0001t0012g0087 a0001c0001t0012g0103 a0001c0001t0019g0049 a0001c0001t0019g0085 a0001c0001t0023g0012 a0001c0001t0024g0148 a0001c0001t0024g0161 a0001c0001t0027g0001 a0001c0001t0030g0163 a0001c0001t0033g0004 a0001c0001t0041g0063 a0001c0001t0053g0099 a0001c0001t0063g0129 a0001c0001t0064g0142 a0001c0001t0065g0011 a0001c0001t0066g0002 a0001c0002t0001g0192 a0001c0002t0001g0202 a0001c0002t0002g0208 a0001c0002t0003g0228 a0001c0002t0006g0189 a0001c0002t0012g0177 a0001c0002t0021g0178 a0001c0002t0021g0179 a0001c0002t0031g0196 a0001c0003t0003g0238 a0001c0003t0003g0241 a0001c0003t0003g0253 a0001c0003t0018g0251 a0001c0003t0018g0252 a0001c0004t0001g0190 a0001c0004t0002g0211 a0001c0004t0002g0214 a0001c0004t0003g0223 a0001c0004t0023g0225 a0001c0008t0054g0020 a0001c0008t0070g0024 a0001c0009t0001g0130 a0001c0014t0001g0255 a0001c0015t0068g0256	92	256	0.3594	-7	c.183 others(28): Show c.1837-32828_1837-32822delTCCTTCT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106855898	TTTATTTA TTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00642.hp1 others(27): Show HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01192.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02523.hp2 HG02622.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp2 HG03453.hp2 HG03579.hp2 HG06807.hp1 NA18944.hp1 NA18974.hp1 NA18981.hp2 NA18988.hp2 NA18991.hp2 NA18999.hp2 NA19011.hp2 NA19058.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0045 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0010t0005	a0001c0001t0001g0073 a0001c0001t0002g0098 a0001c0001t0003g0058 others(27): Show a0001c0001t0001g0073 a0001c0001t0002g0098 a0001c0001t0003g0058 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0004g0042 a0001c0001t0005g0165 a0001c0001t0006g0036 a0001c0001t0006g0045 a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0008g0054 a0001c0001t0008g0076 a0001c0001t0009g0114 a0001c0001t0013g0060 a0001c0001t0013g0061 a0001c0001t0015g0104 a0001c0001t0015g0107 a0001c0001t0016g0167 a0001c0001t0019g0085 a0001c0001t0045g0106 a0001c0001t0057g0038 a0001c0001t0059g0053 a0001c0001t0060g0057 a0001c0001t0062g0005 a0001c0010t0005g0166	30	256	0.1172	-7	c.120 others(28): Show c.1207-45427_1207-45421delTAAATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106861304	AATTGTGT AATTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(90): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG03017.hp1 HG03098.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18964.hp1 NA18971.hp2 NA18974.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA19003.hp1 NA19010.hp1 NA19058.hp2 NA19064.hp2 NA19079.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0024 a0001c0001t0030 a0001c0001t0044 a0001c0001t0046 a0001c0001t0049 a0001c0001t0064 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0002t0021 a0001c0002t0032 a0001c0002t0039 a0001c0003t0003 a0001c0003t0016 a0001c0003t0029 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0058 a0001c0006t0005 a0001c0006t0006 a0001c0006t0025 a0001c0007t0005 a0001c0007t0042 a0001c0009t0001 a0001c0012t0003 a0001c0013t0004 a0001c0014t0001 a0001c0015t0068	a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0001g0124 others(90): Show a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0133 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0003g0145 a0001c0001t0004g0120 a0001c0001t0004g0138 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0101 a0001c0001t0005g0119 a0001c0001t0005g0134 a0001c0001t0005g0154 a0001c0001t0006g0043 a0001c0001t0006g0135 a0001c0001t0006g0149 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0175 a0001c0001t0007g0144 a0001c0001t0008g0022 a0001c0001t0008g0143 a0001c0001t0010g0121 a0001c0001t0011g0118 a0001c0001t0011g0123 a0001c0001t0011g0131 a0001c0001t0011g0132 a0001c0001t0011g0136 a0001c0001t0024g0148 a0001c0001t0024g0161 a0001c0001t0030g0163 a0001c0001t0044g0029 a0001c0001t0046g0030 a0001c0001t0049g0147 a0001c0001t0064g0142 a0001c0002t0001g0202 a0001c0002t0003g0228 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0005g0222 a0001c0002t0006g0189 a0001c0002t0012g0177 a0001c0002t0012g0181 a0001c0002t0021g0178 a0001c0002t0021g0179 a0001c0002t0032g0180 a0001c0002t0039g0215 a0001c0003t0003g0238 a0001c0003t0003g0241 a0001c0003t0016g0244 a0001c0003t0029g0240 a0001c0004t0001g0212 a0001c0004t0001g0219 a0001c0004t0002g0211 a0001c0004t0002g0214 a0001c0004t0002g0221 a0001c0004t0003g0223 a0001c0004t0005g0205 a0001c0004t0005g0227 a0001c0004t0006g0199 a0001c0004t0006g0218 a0001c0004t0006g0220 a0001c0004t0006g0226 a0001c0004t0058g0217 a0001c0006t0005g0203 a0001c0006t0005g0210 a0001c0006t0005g0213 a0001c0006t0006g0216 a0001c0006t0025g0200 a0001c0006t0025g0209 a0001c0007t0005g0018 a0001c0007t0005g0025 a0001c0007t0042g0128 a0001c0009t0001g0130 a0001c0012t0003g0207 a0001c0013t0004g0248 a0001c0014t0001g0255 a0001c0015t0068g0256	93	256	0.3633	-7	c.120 others(28): Show c.1207-50833_1207-50827delACACAAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106957855	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG00735.hp2 others(14): Show HG00438.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01255.hp1 HG02145.hp2 HG02257.hp1 HG02559.hp1 HG02717.hp1 HG03098.hp2 HG03225.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0026 a0001c0001t0036 a0001c0001t0043 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0018 a0001c0003t0050 a0001c0005t0003 a0001c0005t0004	a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0002g0111 others(14): Show a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0002g0111 a0001c0001t0008g0035 a0001c0001t0010g0100 a0001c0001t0026g0064 a0001c0001t0036g0115 a0001c0001t0043g0041 a0001c0003t0003g0233 a0001c0003t0004g0247 a0001c0003t0009g0249 a0001c0003t0018g0251 a0001c0003t0018g0252 a0001c0003t0050g0250 a0001c0005t0003g0170 a0001c0005t0003g0171 a0001c0005t0004g0048	17	256	0.0664	-7	c.488 others(26): Show c.488-17684_488-17678delAAAAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106981525	TTTCTTTA TTTCTTTA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02559.hp1 HG06807.hp2 others(2): Show HG01255.hp1 HG02559.hp1 HG06807.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0009 a0001c0003t0018 others(1): Show a0001c0003t0004 a0001c0003t0009 a0001c0003t0018 a0001c0003t0050	a0001c0003t0004g0247 a0001c0003t0009g0249 a0001c0003t0018g0251 others(2): Show a0001c0003t0004g0247 a0001c0003t0009g0249 a0001c0003t0018g0251 a0001c0003t0018g0252 a0001c0003t0050g0250	5	256	0.0195	-7	c.366 others(24): Show c.366-2792_366-2786delTAAAGAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	2/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	107015561	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02273.hp1 HG02622.hp2 others(7): Show HG02145.hp2 HG02273.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG03017.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0011	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(6): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0036 a0001c0002t0004 a0001c0005t0015 a0001c0005t0020 a0002c0011t0013	a0001c0001t0004g0116 a0001c0001t0006g0045 a0001c0001t0009g0114 others(7): Show a0001c0001t0004g0116 a0001c0001t0006g0045 a0001c0001t0009g0114 a0001c0001t0013g0032 a0001c0001t0036g0115 a0001c0002t0004g0184 a0001c0005t0015g0044 a0001c0005t0020g0046 a0001c0005t0020g0047 a0002c0011t0013g0031	10	256	0.0391	-7	c.303 others(24): Show c.303+2185_303+2191delTTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	1/7			chr11	TogoVar
GUCY2C_chr12_14607632_14701599	14644740	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02630.hp2 others(9): Show HG02055.hp1 HG02280.hp1 HG02630.hp2 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 a0001c0002 a0001c0003 a0001c0007	a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001	a0001c0002t0001g0056 a0001c0002t0001g0212 a0001c0002t0001g0213 others(7): Show a0001c0002t0001g0056 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0003t0001g0003 a0001c0003t0001g0015 a0001c0003t0001g0017 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0007t0001g0214 a0001c0007t0001g0219	12	236	0.0509	-7	c.179 others(24): Show c.1797+482_1797+488delAAAAAAA	GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding	16/26			chr12	TogoVar
GUCY2C_chr12_14607632_14701599	14684586	TTCCTTCC TTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00639.hp2 others(31): Show HG00140.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG01167.hp1 HG01167.hp2 HG01261.hp2 HG02027.hp1 HG02083.hp1 HG02145.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp2 HG02897.hp2 HG03491.hp1 HG03654.hp2 HG04199.hp2 NA18943.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA18993.hp1 NA18997.hp2 NA19010.hp1 NA19010.hp2 NA19058.hp1 NA19058.hp2 NA19077.hp1 NA19084.hp2 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0012 others(2): Show a0001c0001 a0001c0004 a0001c0012 a0001c0017 a0004c0009	a0001c0001t0001 a0001c0004t0001 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0012t0001 a0001c0017t0001 a0004c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0038 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0145 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0120 a0001c0012t0001g0074 a0001c0017t0001g0112 a0004c0009t0001g0064	34	236	0.1441	-7	c.396 others(24): Show c.396-1336_396-1330delGGAAGGA	GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding	3/26			chr12	TogoVar
GUCY2D_chr17_7997615_8025342	8004666	ACATCCAG ACATCCAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 NA18522.hp2 others(2): Show HG02258.hp2 HG03130.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0032 a0005c0006t0001g0064 a0005c0006t0001g0032 a0005c0006t0001g0064	5	432	0.0116	-7	c.102 others(24): Show c.1026+512_1026+518delATCCAGC	GUCY2D	ENSG00000132518.7	transcript	ENST00000254854.5	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
GUCY2D_chr17_7997615_8025342	8021446	CTCTCTCT CTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01167.hp2 others(8): Show HG00735.hp2 HG01081.hp2 HG01167.hp2 HG01884.hp2 HG01928.hp1 HG02071.hp1 HG02922.hp1 HG03098.hp2 HG03486.hp2 NA18979.hp1 NA20300.hp1	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0003 a0004c0011 a0006c0008 a0003c0003 a0004c0011 a0006c0008	a0003c0003t0001 a0004c0011t0005 a0006c0008t0001 a0003c0003t0001 a0004c0011t0005 a0006c0008t0001	a0003c0003t0001g0004 a0003c0003t0001g0027 a0004c0011t0005g0020 others(2): Show a0003c0003t0001g0004 a0003c0003t0001g0027 a0004c0011t0005g0020 a0004c0011t0005g0117 a0006c0008t0001g0016	11	432	0.0255	-7	c.13 others(18): Show c.1344_*1350delTCTCTCT	GUCY2D	ENSG00000132518.7	transcript	ENST00000254854.5	protein_coding		1105		chr17	TogoVar
GUF1_chr4_44673420_44705928	44680614	CTTAAATT CTTAAATT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp2 HG02976.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	3	390	0.0077	-7	c.277 others(20): Show c.277+67_278-69delATTTTAA	GUF1	ENSG00000151806.14	transcript	ENST00000281543.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
GULP1_chr2_188286874_188600926	188354982	TGTTTCTG TGTTTCTG	T T	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19088.hp2 NA19065.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0083 a0001c0001t0014g0084 a0001c0001t0014g0083 a0001c0001t0014g0084	2	162	0.0124	-7	c.-17 others(28): Show c.-171-28779_-171-28773delTTTCTGG	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GULP1_chr2_188286874_188600926	188370339	CTAGCACA CTAGCACA	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19088.hp2 NA19065.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0083 a0001c0001t0014g0084 a0001c0001t0014g0083 a0001c0001t0014g0084	2	162	0.0124	-7	c.-17 others(28): Show c.-171-13423_-171-13417delTAGCACA	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
GUSB_chr7_65955684_65987213	65968230	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(133): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0006 others(5): Show a0001c0001 a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0002c0002 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(5): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0013t0001 a0002c0002t0001 a0003c0008t0001 a0004c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(57): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0005t0001g0124 a0001c0005t0001g0142 a0001c0006t0001g0040 a0001c0010t0001g0123 a0001c0013t0001g0173 a0002c0002t0001g0129 a0003c0008t0001g0072 a0004c0009t0001g0121	136	418	0.3254	-7	c.147 others(24): Show c.1477-330_1477-324delTTTTTTT	GUSB	ENSG00000169919.17	transcript	ENST00000304895.9	protein_coding	9/11			chr7	TogoVar
GVQW3_chr11_76376323_76413132	76407576	CAAAAAAA CAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(110): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18990.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(15): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0034 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0055 a0001c0001t0058 a0001c0001t0069 a0001c0001t0083 a0001c0002t0076 a0001c0002t0078 a0001c0002t0079	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 others(66): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0028 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0215 a0001c0001t0002g0228 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0005g0021 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0029 a0001c0001t0005g0062 a0001c0001t0005g0064 a0001c0001t0005g0075 a0001c0001t0005g0081 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0184 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0017g0001 a0001c0001t0021g0005 a0001c0001t0022g0009 a0001c0001t0022g0068 a0001c0001t0023g0001 a0001c0001t0023g0083 a0001c0001t0029g0045 a0001c0001t0034g0225 a0001c0001t0040g0161 a0001c0001t0041g0127 a0001c0001t0043g0163 a0001c0001t0055g0059 a0001c0001t0058g0108 a0001c0001t0069g0001 a0001c0001t0083g0069 a0001c0002t0076g0048 a0001c0002t0078g0047 a0001c0002t0079g0050	113	382	0.2958	-7	c.38 others(18): Show c.3839_*3845delAAAAAAA	GVQW3	ENSG00000179240.13	transcript	ENST00000529331.2	protein_coding	2/2	3839	INFO_REALIGN_3_PRIME	chr11	TogoVar
GXYLT2_chr3_72883046_72981915	72886875	CAAAAAAA CAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18982.hp1 NA18994.hp1 others(4): Show NA18951.hp1 NA18982.hp1 NA18994.hp1 NA19063.hp2 NA19065.hp2 NA19077.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0224 a0001c0001t0001g0263 a0001c0001t0002g0110 others(4): Show a0001c0001t0001g0224 a0001c0001t0001g0263 a0001c0001t0002g0110 a0001c0001t0002g0213 a0001c0001t0002g0223 a0001c0001t0006g0214 a0001c0001t0007g0221	7	296	0.0237	-7	c.-13 others(18): Show c.-1358_-1352delAAAAAAA	GXYLT2	ENSG00000172986.13	transcript	ENST00000389617.9	protein_coding		1170		chr3	TogoVar
GXYLT2_chr3_72883046_72981915	72909062	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01168.hp1 others(23): Show HG00733.hp2 HG00735.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01891.hp2 HG01993.hp1 HG02109.hp1 HG02258.hp1 HG02293.hp2 HG02622.hp2 HG02647.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03471.hp2 HG04184.hp2 NA18747.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0014 a0001c0004t0029 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0009 a0002c0003t0019	a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0103 others(23): Show a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0103 a0001c0001t0001g0189 a0001c0001t0003g0060 a0001c0001t0004g0015 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0239 a0001c0001t0005g0020 a0001c0001t0006g0019 a0001c0001t0006g0210 a0001c0002t0014g0041 a0001c0004t0029g0283 a0002c0003t0001g0104 a0002c0003t0002g0017 a0002c0003t0006g0039 a0002c0003t0009g0105 a0002c0003t0019g0016	26	296	0.0878	-7	c.468 others(22): Show c.468+521_468+527delTTTTTTT	GXYLT2	ENSG00000172986.13	transcript	ENST00000389617.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
GXYLT2_chr3_72883046_72981915	72979189	CTTTTTTT CTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01346.hp2 HG01891.hp2 others(17): Show HG00597.hp2 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG02109.hp2 HG02129.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03453.hp1 NA18994.hp2 NA19000.hp1 NA19030.hp1 NA19077.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0002c0003t0009 a0005c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0027 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0224 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0004g0035 a0001c0001t0009g0088 a0001c0002t0001g0089 a0002c0003t0009g0105 a0005c0011t0001g0025	20	296	0.0676	-7	c.40 others(18): Show c.4031_*4037delTTTTTTT	GXYLT2	ENSG00000172986.13	transcript	ENST00000389617.9	protein_coding		2275		chr3	TogoVar
GYG1_chr3_148986540_149036775	149035656	CAAAAAAA CAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01255.hp2 HG01891.hp2 others(4): Show HG01069.hp1 HG01255.hp2 HG01891.hp2 HG02109.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0016 a0001c0001t0022 others(2): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0022 a0001c0001t0053 a0001c0006t0029	a0001c0001t0003g0012 a0001c0001t0016g0306 a0001c0001t0016g0307 others(4): Show a0001c0001t0003g0012 a0001c0001t0016g0306 a0001c0001t0016g0307 a0001c0001t0016g0308 a0001c0001t0022g0305 a0001c0001t0053g0196 a0001c0006t0029g0044	7	414	0.0169	-7	c.87 others(18): Show c.8724_*8730delAAAAAAA	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding		3882		chr3	TogoVar
GYG2_chrX_2823930_2887818	2842185	CTTTCTTT CTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp2 HG02717.hp1 HG01261.hp1 HG02109.hp2 HG02717.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0008 a0002c0002 a0004c0008	a0002c0002t0005 a0004c0008t0006 a0002c0002t0005 a0004c0008t0006	a0002c0002t0005g0126 a0004c0008t0006g0009 a0004c0008t0006g0127 a0002c0002t0005g0126 a0004c0008t0006g0009 a0004c0008t0006g0127	3	316	0.0095	-7	c.8-1 others(20): Show c.8-1010_8-1004delCTTTTTT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2856792	TATCTATC TATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG00741.hp1 others(47): Show HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01516.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02683.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18956.hp1 NA18968.hp1 NA18981.hp2 NA18984.hp1 NA18992.hp1 NA18999.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19080.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0011	a0001c0001 a0002c0006 a0004c0008 others(2): Show a0001c0001 a0002c0006 a0004c0008 a0006c0010 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0002c0006t0003 a0004c0008t0006 a0006c0010t0003 a0011c0019t0004	a0001c0001t0001g0004 a0001c0001t0001g0052 a0001c0001t0001g0074 others(46): Show a0001c0001t0001g0004 a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0298 a0001c0001t0002g0192 a0001c0001t0002g0220 a0001c0001t0003g0013 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0218 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0273 a0001c0001t0004g0003 a0001c0001t0004g0012 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0173 a0001c0001t0004g0230 a0001c0001t0004g0246 a0001c0001t0004g0309 a0001c0001t0007g0191 a0001c0001t0008g0064 a0001c0001t0011g0056 a0001c0001t0011g0072 a0002c0006t0003g0036 a0004c0008t0006g0009 a0006c0010t0003g0187 a0006c0010t0003g0202 a0011c0019t0004g0003	50	316	0.1582	-7	c.614 others(22): Show c.614+176_614+182delATCTATC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

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