Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MCTP2_chr15_94226561_94488952	94433083	G G	GGATTTGT others(2): Show GGATTTGTTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(85): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01928.hp2 HG02015.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02965.hp1 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG04115.hp1 HG04204.hp2 NA18747.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19090.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0009 a0012	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0015 a0002c0003 a0002c0004 a0008c0029 a0009c0028 a0012c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0018 a0001c0002t0043 a0001c0005t0009 a0001c0006t0049 a0001c0015t0001 a0001c0015t0003 a0002c0003t0005 a0002c0003t0008 a0002c0003t0028 a0002c0003t0031 a0002c0004t0005 a0002c0004t0007 a0002c0004t0008 a0008c0029t0004 a0009c0028t0003 a0012c0026t0002	a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0197 others(85): Show a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0002g0031 a0001c0001t0002g0044 a0001c0001t0002g0072 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0207 a0001c0001t0002g0232 a0001c0001t0002g0260 a0001c0001t0003g0011 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0046 a0001c0001t0003g0093 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0166 a0001c0001t0003g0228 a0001c0001t0003g0265 a0001c0001t0004g0010 a0001c0001t0004g0118 a0001c0001t0004g0124 a0001c0001t0004g0131 a0001c0001t0004g0186 a0001c0001t0004g0194 a0001c0001t0004g0199 a0001c0001t0014g0076 a0001c0002t0001g0055 a0001c0002t0001g0105 a0001c0002t0001g0125 a0001c0002t0001g0161 a0001c0002t0001g0230 a0001c0002t0002g0080 a0001c0002t0002g0133 a0001c0002t0002g0142 a0001c0002t0002g0203 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0003g0064 a0001c0002t0003g0136 a0001c0002t0003g0150 a0001c0002t0003g0164 a0001c0002t0003g0204 a0001c0002t0003g0218 a0001c0002t0003g0247 a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0004g0135 a0001c0002t0004g0144 a0001c0002t0004g0157 a0001c0002t0004g0170 a0001c0002t0004g0195 a0001c0002t0004g0210 a0001c0002t0004g0213 a0001c0002t0004g0223 a0001c0002t0004g0227 a0001c0002t0006g0191 a0001c0002t0018g0098 a0001c0002t0043g0198 a0001c0005t0009g0248 a0001c0006t0049g0236 a0001c0015t0001g0165 a0001c0015t0003g0155 a0002c0003t0005g0012 a0002c0003t0005g0040 a0002c0003t0005g0192 a0002c0003t0008g0014 a0002c0003t0008g0038 a0002c0003t0008g0042 a0002c0003t0008g0082 a0002c0003t0028g0173 a0002c0003t0031g0190 a0002c0004t0005g0222 a0002c0004t0005g0249 a0002c0004t0005g0251 a0002c0004t0005g0263 a0002c0004t0007g0043 a0002c0004t0008g0113 a0002c0004t0008g0221 a0008c0029t0004g0109 a0009c0028t0003g0096 a0012c0026t0002g0181	88	276	0.3188	9	c.208 others(28): Show c.2086-7084_2086-7076dupAGATTTGTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94455624	A A	ACCATGTT others(2): Show ACCATGTTGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG02055.hp2 others(19): Show HG01243.hp2 HG01496.hp2 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp2 HG02818.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19043.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0010 others(5): Show a0001c0001 a0001c0002 a0001c0010 a0001c0013 a0001c0017 a0004c0008 a0005c0014 a0006c0011	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0002t0013 a0001c0002t0046 a0001c0010t0033 a0001c0013t0001 a0001c0017t0013 a0004c0008t0019 a0005c0014t0035 a0006c0011t0011	a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0097 others(19): Show a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0097 a0001c0001t0001g0177 a0001c0001t0011g0058 a0001c0001t0012g0123 a0001c0001t0018g0111 a0001c0002t0001g0024 a0001c0002t0001g0054 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0179 a0001c0002t0001g0235 a0001c0002t0001g0275 a0001c0002t0013g0061 a0001c0002t0046g0029 a0001c0010t0033g0152 a0001c0013t0001g0034 a0001c0017t0013g0023 a0004c0008t0019g0035 a0005c0014t0035g0122 a0006c0011t0011g0274	22	276	0.0797	9	c.225 others(28): Show c.2251-2512_2251-2504dupCCATGTTGG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCUB_chr4_109555246_109693719	109679787	T T	TTTGTTGT others(2): Show TTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01891.hp2 others(7): Show HG00735.hp2 HG01243.hp1 HG01891.hp2 HG02257.hp1 HG02559.hp1 HG02615.hp2 HG02818.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0029 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0105 a0004c0004t0001g0331	10	336	0.0298	9	c.452 others(26): Show c.452-2774_452-2766dupGTTGTTGTT	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCU_chr10_72687143_72892694	72810634	G G	GGTTGTTG others(2): Show GGTTGTTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02055.hp1 HG04204.hp1 HG00140.hp2 HG02055.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0158	3	210	0.0143	9	c.151 others(28): Show c.151-23703_151-23695dupGTTGTTGTT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDFIC2_chr3_70189479_70317638	70237979	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03471.hp1 HG03490.hp1 others(5): Show HG02257.hp1 HG03471.hp1 HG03490.hp1 NA18953.hp1 NA18984.hp2 NA18986.hp1 NA19030.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0122 others(5): Show a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0123 a0002c0002t0004g0017 a0002c0002t0004g0225 a0002c0002t0004g0233 a0002c0002t0004g0296	8	370	0.0216	9	c.89- others(26): Show c.89-31198_89-31190dupAAAAAAAAA	MDFIC2	ENSG00000242120.4	transcript	ENST00000567252.2	protein_coding	2/3			chr3	TogoVar
MDFIC_chr7_114917094_115024917	114920922	G G	GTTGTTTT others(2): Show GTTGTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02257.hp1 HG02523.hp2 others(11): Show HG01358.hp2 HG02257.hp1 HG02523.hp2 HG03942.hp2 NA18747.hp1 NA18939.hp1 NA18950.hp1 NA18970.hp1 NA18989.hp1 NA18990.hp2 NA19007.hp1 NA19064.hp2 NA19076.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0001g0295 a0001c0001t0001g0298 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0306 a0001c0001t0005g0012 a0001c0001t0005g0129 a0001c0001t0006g0300 a0001c0001t0006g0302 a0001c0001t0011g0193 a0001c0001t0011g0305 a0001c0001t0015g0003	14	334	0.0419	9	c.-18 others(20): Show c.-1822_-1821insTTGTTTTTT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding		1171		chr7	TogoVar
MDFIC_chr7_114917094_115024917	114920922	G G	GTTTTTTT others(2): Show GTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00642.hp2 others(35): Show HG00140.hp2 HG00621.hp1 HG00642.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01346.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02622.hp2 HG02698.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03453.hp2 HG03490.hp2 HG03654.hp2 NA18906.hp1 NA18954.hp1 NA18977.hp2 NA18979.hp2 NA18984.hp1 NA18989.hp2 NA18991.hp1 NA19007.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0035 a0001c0001t0042 a0001c0001t0044 a0001c0001t0051 a0001c0001t0058 a0001c0001t0064	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0092 others(34): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0002g0014 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0143 a0001c0001t0002g0251 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0216 a0001c0001t0004g0011 a0001c0001t0004g0258 a0001c0001t0004g0271 a0001c0001t0007g0259 a0001c0001t0008g0009 a0001c0001t0008g0018 a0001c0001t0009g0008 a0001c0001t0013g0282 a0001c0001t0014g0004 a0001c0001t0014g0107 a0001c0001t0016g0239 a0001c0001t0017g0246 a0001c0001t0025g0118 a0001c0001t0025g0127 a0001c0001t0026g0165 a0001c0001t0035g0205 a0001c0001t0042g0101 a0001c0001t0044g0106 a0001c0001t0051g0187 a0001c0001t0058g0252 a0001c0001t0064g0121	38	334	0.1138	9	c.-18 others(20): Show c.-1822_-1821insTTTTTTTTT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding		1171		chr7	TogoVar
MDFIC_chr7_114917094_115024917	114959824	C C	CTAATAAT others(2): Show CTAATAATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00609.hp1 others(51): Show HG00099.hp1 HG00140.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01358.hp1 HG01496.hp2 HG01981.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp2 HG02280.hp1 HG02293.hp1 HG02602.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03654.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18941.hp1 NA18944.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA19003.hp2 NA19077.hp2 NA19083.hp1 NA19087.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0034 a0001c0001t0037 a0001c0001t0042 a0001c0001t0046 a0001c0001t0049 a0001c0008t0001	a0001c0001t0001g0080 a0001c0001t0001g0115 a0001c0001t0001g0192 others(49): Show a0001c0001t0001g0080 a0001c0001t0001g0115 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0247 a0001c0001t0002g0033 a0001c0001t0002g0074 a0001c0001t0002g0203 a0001c0001t0002g0267 a0001c0001t0006g0179 a0001c0001t0006g0222 a0001c0001t0007g0017 a0001c0001t0007g0172 a0001c0001t0007g0211 a0001c0001t0007g0229 a0001c0001t0007g0259 a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0008g0116 a0001c0001t0008g0140 a0001c0001t0008g0299 a0001c0001t0010g0256 a0001c0001t0011g0073 a0001c0001t0011g0166 a0001c0001t0011g0168 a0001c0001t0013g0131 a0001c0001t0013g0142 a0001c0001t0013g0155 a0001c0001t0013g0177 a0001c0001t0013g0264 a0001c0001t0013g0282 a0001c0001t0013g0283 a0001c0001t0013g0291 a0001c0001t0014g0079 a0001c0001t0014g0107 a0001c0001t0014g0272 a0001c0001t0014g0273 a0001c0001t0014g0287 a0001c0001t0017g0218 a0001c0001t0019g0243 a0001c0001t0019g0278 a0001c0001t0020g0010 a0001c0001t0020g0147 a0001c0001t0020g0201 a0001c0001t0034g0220 a0001c0001t0037g0041 a0001c0001t0042g0101 a0001c0001t0046g0156 a0001c0001t0049g0262 a0001c0008t0001g0286	54	334	0.1617	9	c.217 others(28): Show c.217+17450_217+17458dupAATAATAAT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
MDGA1_chr6_37625679_37702883	37698245	C C	CTCTCTCT others(2): Show CTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02922.hp2 others(3): Show HG02280.hp2 HG02615.hp1 HG02922.hp2 HG03516.hp2 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0010 a0001c0001t0016 a0001c0001t0118 others(2): Show a0001c0001t0010 a0001c0001t0016 a0001c0001t0118 a0001c0002t0043 a0001c0017t0126	a0001c0001t0010g0381 a0001c0001t0016g0231 a0001c0001t0118g0377 others(3): Show a0001c0001t0010g0381 a0001c0001t0016g0231 a0001c0001t0118g0377 a0001c0002t0043g0379 a0001c0002t0043g0380 a0001c0017t0126g0376	6	402	0.0149	9	c.-14 others(20): Show c.-1443_-1435dupAGAGAGAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		363		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698246	T T	TCTCTCTC others(2): Show TCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02895.hp1 others(3): Show HG02145.hp1 HG02257.hp2 HG02895.hp1 HG02970.hp1 HG03195.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0010 a0001c0001t0124 a0001c0003t0121 others(2): Show a0001c0001t0010 a0001c0001t0124 a0001c0003t0121 a0001c0005t0122 a0001c0007t0010	a0001c0001t0010g0386 a0001c0001t0124g0389 a0001c0003t0121g0391 others(3): Show a0001c0001t0010g0386 a0001c0001t0124g0389 a0001c0003t0121g0391 a0001c0005t0122g0385 a0001c0007t0010g0384 a0001c0007t0010g0388	6	402	0.0149	9	c.-14 others(20): Show c.-1444_-1436dupGAGAGAGAG	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		364		chr6	TogoVar
MDGA2_chr14_46835092_47680605	46918760	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01358.hp2 HG02257.hp1 others(9): Show HG00741.hp2 HG01358.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG03225.hp2 HG03579.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0002 others(2): Show a0001c0001 a0001c0008 a0002c0002 a0002c0010 a0005c0007	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0029 a0001c0008t0005 a0002c0002t0004 a0002c0002t0005 a0002c0010t0005 a0005c0007t0004	a0001c0001t0001g0111 a0001c0001t0012g0017 a0001c0001t0012g0019 others(9): Show a0001c0001t0001g0111 a0001c0001t0012g0017 a0001c0001t0012g0019 a0001c0001t0013g0116 a0001c0001t0029g0120 a0001c0008t0005g0103 a0002c0002t0004g0007 a0002c0002t0004g0008 a0002c0002t0005g0074 a0002c0002t0005g0107 a0002c0010t0005g0119 a0005c0007t0004g0009	12	120	0.1000	9	c.223 others(28): Show c.2238+1243_2238+1251dupAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	10/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	46938540	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01884.hp1 others(2): Show HG01069.hp1 HG01071.hp2 HG01884.hp1 HG02145.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 others(1): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0027	a0001c0001t0006g0048 a0001c0001t0014g0095 a0001c0001t0014g0096 others(2): Show a0001c0001t0006g0048 a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0017g0011 a0001c0001t0027g0054	5	120	0.0417	9	c.209 others(30): Show c.2090-18389_2090-18381dupTTTTTTTTT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	9/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47079727	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01167.hp2 HG01175.hp1 others(5): Show HG01069.hp2 HG01167.hp2 HG01175.hp1 HG02257.hp1 HG02451.hp1 HG04115.hp2 NA18522.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0022 a0001c0001t0025 a0002c0002t0005 a0002c0002t0009	a0001c0001t0001g0037 a0001c0001t0002g0088 a0001c0001t0003g0057 others(5): Show a0001c0001t0001g0037 a0001c0001t0002g0088 a0001c0001t0003g0057 a0001c0001t0015g0046 a0001c0001t0022g0031 a0001c0001t0025g0087 a0002c0002t0005g0074 a0002c0002t0009g0113	8	120	0.0667	9	c.119 others(30): Show c.1195+17118_1195+17126dupAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	6/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47247632	T T	TTTATTAT others(2): Show TTTATTATTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01167.hp2 HG02135.hp1 others(3): Show HG01069.hp2 HG01167.hp2 HG02135.hp1 HG04184.hp1 HG04199.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0002g0088 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0002g0088 a0001c0001t0003g0038 a0001c0001t0003g0057 a0001c0001t0003g0118	6	120	0.0500	9	c.421 others(28): Show c.421-29446_421-29438dupTAATAATAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47247632	T T	TTTTTTAT others(2): Show TTTTTTATTA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03017.hp1 HG03704.hp1 others(1): Show HG02738.hp2 HG03017.hp1 HG03704.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0018 a0001c0001t0002 a0001c0001t0008 a0001c0001t0018	a0001c0001t0002g0056 a0001c0001t0002g0093 a0001c0001t0008g0012 others(1): Show a0001c0001t0002g0056 a0001c0001t0002g0093 a0001c0001t0008g0012 a0001c0001t0018g0022	4	120	0.0333	9	c.421 others(28): Show c.421-29438_421-29437insTAATAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47251931	G G	GTATCATT others(2): Show GTATCATTAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG00741.hp1 others(27): Show HG00323.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02145.hp1 HG02559.hp2 HG02717.hp2 HG02738.hp2 HG03017.hp1 HG03486.hp1 HG03516.hp2 HG03704.hp1 HG04115.hp1 HG04199.hp2 NA18906.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0002c0002t0001 a0002c0002t0009 a0003c0004t0001 a0003c0004t0004 a0004c0003t0002	a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0094 others(27): Show a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0093 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0092 a0001c0001t0006g0041 a0001c0001t0006g0048 a0001c0001t0006g0082 a0001c0001t0006g0099 a0001c0001t0008g0012 a0001c0001t0010g0026 a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0015g0115 a0001c0001t0017g0011 a0001c0001t0018g0022 a0002c0002t0001g0081 a0002c0002t0009g0104 a0003c0004t0001g0100 a0003c0004t0004g0003 a0004c0003t0002g0036	30	120	0.2500	9	c.421 others(28): Show c.421-33737_421-33736insATAATGATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47370497	T T	TTTTTTTT others(2): Show TTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01517.hp1 HG01978.hp2 others(4): Show HG00323.hp2 HG01517.hp1 HG01978.hp2 HG02559.hp2 HG04115.hp1 NA18522.hp2 NA18966.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0004c0003t0002 a0004c0003t0003	a0001c0001t0002g0042 a0001c0001t0006g0041 a0001c0001t0006g0082 others(4): Show a0001c0001t0002g0042 a0001c0001t0006g0041 a0001c0001t0006g0082 a0001c0001t0010g0026 a0001c0001t0015g0046 a0004c0003t0002g0036 a0004c0003t0003g0034	7	120	0.0583	9	c.281 others(28): Show c.281-68948_281-68947insCAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47384015	A A	AGATAGAT others(2): Show AGATAGATAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01099.hp1 others(3): Show HG00323.hp1 HG00735.hp1 HG01099.hp1 HG01261.hp2 HG02818.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0011	a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0085 others(3): Show a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0002g0069 a0001c0001t0006g0098 a0002c0002t0011g0020	6	120	0.0500	9	c.281 others(28): Show c.281-82466_281-82465insCTATCTATC	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDN1_chr6_89637498_89824794	89682699	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00738.hp2 others(6): Show HG00140.hp2 HG00323.hp2 HG00738.hp2 HG01258.hp2 HG01496.hp2 HG01993.hp2 HG02293.hp1 HG04204.hp2 NA19091.hp1	a0006 a0027 a0006 a0027	a0006c0005 a0006c0022 a0006c0065 others(1): Show a0006c0005 a0006c0022 a0006c0065 a0027c0064	a0006c0005t0003 a0006c0005t0004 a0006c0022t0003 others(2): Show a0006c0005t0003 a0006c0005t0004 a0006c0022t0003 a0006c0065t0003 a0027c0064t0003	a0006c0005t0003g0005 a0006c0005t0003g0010 a0006c0005t0003g0019 others(6): Show a0006c0005t0003g0005 a0006c0005t0003g0010 a0006c0005t0003g0019 a0006c0005t0003g0022 a0006c0005t0004g0172 a0006c0022t0003g0017 a0006c0022t0003g0018 a0006c0065t0003g0004 a0027c0064t0003g0015	9	290	0.0310	9	c.121 others(28): Show c.12102+424_12102+432dupTTTTTTTTT	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	73/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89734691	A A	AGAGAGAG others(2): Show AGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG01167.hp1 others(8): Show HG00609.hp2 HG00639.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01978.hp1 HG02071.hp2 HG02129.hp2 HG02132.hp1 HG02293.hp2 HG02300.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0161 a0001c0007t0001g0241 a0001c0007t0001g0242 others(8): Show a0001c0007t0001g0161 a0001c0007t0001g0241 a0001c0007t0001g0242 a0001c0007t0001g0244 a0001c0007t0001g0245 a0001c0007t0001g0246 a0001c0007t0001g0247 a0001c0007t0001g0248 a0001c0007t0001g0280 a0001c0007t0001g0281 a0001c0007t0001g0282	11	290	0.0379	9	c.472 others(28): Show c.4724-1917_4724-1916insCTCTCTCTC	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	33/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83221158	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(76): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0005 a0004c0012 others(1): Show a0001c0001 a0001c0005 a0004c0012 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0005t0002 a0004c0012t0002 a0006c0008t0001	a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 others(76): Show a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0067 a0001c0001t0002g0101 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0191 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0003g0229 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0010g0225 a0001c0005t0002g0024 a0001c0005t0002g0027 a0001c0005t0002g0028 a0004c0012t0002g0031 a0006c0008t0001g0002	79	272	0.2904	9	c.144 others(28): Show c.1449+2593_1449+2601dupTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	12/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83268728	G G	GTTATTAT others(2): Show GTTATTATTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02040.hp1 HG02109.hp1 others(25): Show HG00597.hp2 HG02040.hp1 HG02109.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG04199.hp1 NA18939.hp2 NA18948.hp2 NA18972.hp2 NA18975.hp2 NA18980.hp1 NA18993.hp1 NA19000.hp1 NA19066.hp1 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004 a0001c0003t0004 a0001c0003t0012 a0001c0011t0001	a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 others(25): Show a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0003g0236 a0001c0001t0003g0244 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0001t0006g0272 a0001c0001t0010g0225 a0001c0001t0010g0228 a0001c0002t0001g0033 a0001c0002t0001g0089 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0004g0209 a0001c0003t0004g0016 a0001c0003t0004g0017 a0001c0003t0004g0018 a0001c0003t0004g0020 a0001c0003t0004g0090 a0001c0003t0012g0019 a0001c0011t0001g0023	28	272	0.1029	9	c.705 others(28): Show c.705-14999_705-14991dupTAATAATAA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83277901	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp1 NA18981.hp1 HG02109.hp1 HG02886.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0003t0012 a0001c0001t0003 a0001c0001t0006 a0001c0003t0012	a0001c0001t0003g0252 a0001c0001t0006g0272 a0001c0003t0012g0019 a0001c0001t0003g0252 a0001c0001t0006g0272 a0001c0003t0012g0019	3	272	0.0110	9	c.705 others(28): Show c.705-24172_705-24164dupATTATTATT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83277907	T T	TAATAATA others(2): Show TAATAATAAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA21309.hp1 HG03130.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0042 a0001c0001t0002g0050	2	272	0.0074	9	c.705 others(28): Show c.705-24170_705-24169insGTTATTATT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83314663	C C	CTCATTAT others(2): Show CTCATTATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp1 HG03453.hp2 HG02280.hp2 HG02717.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0208 a0001c0003t0004g0210 a0001c0003t0004g0211 a0001c0003t0004g0208 a0001c0003t0004g0210 a0001c0003t0004g0211	3	272	0.0110	9	c.704 others(24): Show c.704+638_704+646dupATATAATGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME2_chr18_50874118_50959257	50941353	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp1 HG01934.hp2 others(4): Show HG01081.hp2 HG01891.hp1 HG01934.hp2 HG02486.hp1 HG03579.hp1 HG03688.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0036 a0001c0001t0155 a0002c0002t0020 others(3): Show a0001c0001t0036 a0001c0001t0155 a0002c0002t0020 a0002c0002t0042 a0002c0002t0115 a0002c0002t0176	a0001c0001t0036g0191 a0001c0001t0155g0190 a0002c0002t0020g0120 others(4): Show a0001c0001t0036g0191 a0001c0001t0155g0190 a0002c0002t0020g0120 a0002c0002t0020g0322 a0002c0002t0042g0315 a0002c0002t0115g0164 a0002c0002t0176g0183	7	342	0.0205	9	c.158 others(26): Show c.1587+990_1587+998dupTTTTTTTTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
ME2_chr18_50874118_50959257	50950468	T T	TTTTTTTT others(2): Show TTTTTTTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG02735.hp2 HG03453.hp1 others(9): Show HG01074.hp2 HG02735.hp2 HG03453.hp1 HG03834.hp2 NA18940.hp1 NA18969.hp2 NA18974.hp2 NA18982.hp1 NA18998.hp2 NA19011.hp2 NA19054.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0033 a0001c0001t0043 others(4): Show a0001c0001t0017 a0001c0001t0033 a0001c0001t0043 a0001c0001t0127 a0001c0001t0128 a0001c0001t0151 a0001c0001t0170	a0001c0001t0017g0250 a0001c0001t0017g0280 a0001c0001t0017g0283 others(9): Show a0001c0001t0017g0250 a0001c0001t0017g0280 a0001c0001t0017g0283 a0001c0001t0017g0319 a0001c0001t0033g0231 a0001c0001t0033g0248 a0001c0001t0043g0299 a0001c0001t0043g0300 a0001c0001t0127g0249 a0001c0001t0128g0246 a0001c0001t0151g0013 a0001c0001t0170g0193	12	342	0.0351	9	c.32 others(20): Show c.3292_*3293insCTTTTTTTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	16/16	3293	INFO_REALIGN_3_PRIME	chr18	TogoVar
ME3_chr11_86436108_86677616	86501175	T T	TATAATAA others(2): Show TATAATAATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02280.hp1 HG03139.hp2 HG01074.hp2 HG02280.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0022t0001 a0001c0001t0001 a0001c0022t0001	a0001c0001t0001g0091 a0001c0001t0001g0163 a0001c0022t0001g0205 a0001c0001t0001g0091 a0001c0001t0001g0163 a0001c0022t0001g0205	3	320	0.0094	9	c.544 others(26): Show c.544-3060_544-3052dupTATTATTAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	5/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86567243	A A	AAAAGGAA others(2): Show AAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02735.hp2 others(4): Show HG01168.hp2 HG01169.hp2 HG02735.hp2 HG03490.hp1 HG04115.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0004 a0001c0010 a0002c0004	a0001c0010t0001 a0001c0010t0006 a0002c0004t0001 a0001c0010t0001 a0001c0010t0006 a0002c0004t0001	a0001c0010t0001g0083 a0001c0010t0001g0085 a0001c0010t0001g0086 others(4): Show a0001c0010t0001g0083 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0193 a0001c0010t0006g0319 a0002c0004t0001g0194 a0002c0004t0001g0195	7	320	0.0219	9	c.184 others(26): Show c.184-7421_184-7420insCCTTCCTTT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86618299	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02145.hp2 HG02148.hp1 others(5): Show HG02056.hp2 HG02145.hp2 HG02148.hp1 HG02280.hp2 HG02683.hp2 HG03486.hp2 HG03654.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0002c0003t0005 a0002c0005t0001	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0218 others(5): Show a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0218 a0001c0001t0002g0272 a0001c0002t0001g0166 a0002c0003t0001g0090 a0002c0003t0005g0210 a0002c0005t0001g0062	8	320	0.0250	9	c.183 others(28): Show c.183+53454_183+53462dupTTTTTTTTT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169097817	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02486.hp2 HG02717.hp1 others(3): Show HG02132.hp2 HG02486.hp2 HG02717.hp1 HG03139.hp1 HG03579.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0005 a0001c0004t0001 a0001c0004t0002 others(3): Show a0001c0001t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0052 a0001c0004t0054 a0002c0002t0004	a0001c0001t0005g0096 a0001c0004t0001g0059 a0001c0004t0002g0090 others(3): Show a0001c0001t0005g0096 a0001c0004t0001g0059 a0001c0004t0002g0090 a0001c0004t0052g0158 a0001c0004t0054g0160 a0002c0002t0004g0068	6	160	0.0375	9	c.285 others(28): Show c.2850-2581_2850-2573dupTTTTTTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	12/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169261745	A A	AGGAGAAA others(2): Show AGGAGAAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01433.hp2 HG02257.hp1 others(9): Show HG01255.hp2 HG01433.hp2 HG02257.hp1 HG02630.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG04204.hp2 HG06807.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0046 a0002c0002t0003 a0002c0010t0014	a0001c0001t0003g0032 a0001c0001t0003g0039 a0001c0001t0003g0040 others(9): Show a0001c0001t0003g0032 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0005g0103 a0001c0001t0006g0121 a0001c0001t0006g0123 a0001c0001t0008g0111 a0001c0001t0009g0141 a0001c0001t0011g0023 a0001c0001t0046g0151 a0002c0002t0003g0038 a0002c0010t0014g0149	12	160	0.0750	9	c.376 others(30): Show c.376-117914_376-117913insCTTTTCTCC	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169506466	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(46): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01175.hp1 HG01361.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02080.hp2 HG02132.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02896.hp1 HG02896.hp2 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp1 NA18943.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18975.hp1 NA18988.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19060.hp1 NA19066.hp2 NA19070.hp1 NA19088.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0010 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0037 a0001c0001t0049 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0009 a0001c0004t0006 a0001c0004t0052 a0001c0007t0012 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0015 a0002c0002t0035 a0002c0002t0042 a0002c0002t0043 a0002c0002t0047 a0002c0010t0002 a0002c0011t0011 a0002c0011t0012	a0001c0001t0001g0048 a0001c0001t0002g0076 a0001c0001t0002g0084 others(46): Show a0001c0001t0001g0048 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0003g0031 a0001c0001t0003g0037 a0001c0001t0004g0061 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0005g0104 a0001c0001t0006g0116 a0001c0001t0006g0121 a0001c0001t0006g0124 a0001c0001t0007g0127 a0001c0001t0007g0130 a0001c0001t0008g0113 a0001c0001t0009g0139 a0001c0001t0010g0077 a0001c0001t0010g0079 a0001c0001t0010g0081 a0001c0001t0015g0016 a0001c0001t0016g0064 a0001c0001t0017g0112 a0001c0001t0020g0128 a0001c0001t0023g0002 a0001c0001t0025g0004 a0001c0001t0026g0005 a0001c0001t0037g0034 a0001c0001t0049g0155 a0001c0003t0001g0043 a0001c0003t0003g0042 a0001c0003t0005g0097 a0001c0003t0005g0098 a0001c0003t0006g0122 a0001c0003t0009g0140 a0001c0004t0006g0120 a0001c0004t0052g0158 a0001c0007t0012g0030 a0002c0002t0002g0087 a0002c0002t0004g0065 a0002c0002t0004g0068 a0002c0002t0005g0095 a0002c0002t0015g0017 a0002c0002t0035g0026 a0002c0002t0042g0117 a0002c0002t0043g0126 a0002c0002t0047g0153 a0002c0010t0002g0089 a0002c0011t0011g0021 a0002c0011t0012g0027	49	160	0.3063	9	c.38- others(28): Show c.38-124951_38-124943dupAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169533591	T T	TTTTTTTT others(2): Show TTTTTTTTAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp2 HG02258.hp2 others(18): Show HG01099.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03540.hp1 NA18906.hp2 NA18943.hp1 NA19088.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0002c0002 a0004c0013	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(15): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0001t0025 a0001c0001t0030 a0001c0001t0040 a0001c0001t0051 a0001c0003t0002 a0001c0003t0009 a0001c0004t0002 a0001c0008t0003 a0001c0012t0007 a0002c0002t0003 a0002c0002t0039 a0004c0013t0002	a0001c0001t0004g0073 a0001c0001t0005g0094 a0001c0001t0005g0103 others(18): Show a0001c0001t0004g0073 a0001c0001t0005g0094 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0006g0125 a0001c0001t0007g0134 a0001c0001t0007g0137 a0001c0001t0013g0050 a0001c0001t0016g0064 a0001c0001t0025g0004 a0001c0001t0030g0011 a0001c0001t0040g0105 a0001c0001t0051g0156 a0001c0003t0002g0075 a0001c0003t0009g0140 a0001c0004t0002g0090 a0001c0008t0003g0036 a0001c0012t0007g0136 a0002c0002t0003g0041 a0002c0002t0039g0093 a0004c0013t0002g0074	21	160	0.1313	9	c.37+ others(28): Show c.37+129744_37+129745insGTAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169649409	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp1 HG01099.hp1 others(40): Show HG00438.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01361.hp2 HG01496.hp2 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02257.hp1 HG02717.hp1 HG03017.hp2 HG03471.hp1 HG03492.hp1 HG03704.hp1 HG04228.hp2 NA18522.hp1 NA18941.hp2 NA18943.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18975.hp1 NA18975.hp2 NA18988.hp2 NA19002.hp2 NA19007.hp1 NA19011.hp2 NA19066.hp2 NA19070.hp1 NA19088.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0002c0010 a0002c0011 a0003c0005 a0006c0015	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(34): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0003t0001 a0001c0003t0009 a0001c0004t0002 a0001c0004t0052 a0001c0006t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0002c0002t0024 a0002c0002t0027 a0002c0002t0035 a0002c0002t0042 a0002c0010t0002 a0002c0011t0011 a0002c0011t0012 a0003c0005t0018 a0003c0005t0041 a0006c0015t0022	a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0004g0063 others(40): Show a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0004g0063 a0001c0001t0005g0099 a0001c0001t0005g0101 a0001c0001t0006g0118 a0001c0001t0007g0127 a0001c0001t0007g0130 a0001c0001t0009g0139 a0001c0001t0010g0079 a0001c0001t0010g0080 a0001c0001t0013g0044 a0001c0001t0016g0064 a0001c0001t0017g0108 a0001c0001t0019g0013 a0001c0001t0020g0128 a0001c0001t0023g0002 a0001c0001t0025g0004 a0001c0001t0026g0005 a0001c0001t0028g0007 a0001c0001t0032g0019 a0001c0003t0001g0043 a0001c0003t0001g0051 a0001c0003t0009g0140 a0001c0004t0002g0088 a0001c0004t0052g0158 a0001c0006t0003g0035 a0002c0002t0001g0046 a0002c0002t0002g0087 a0002c0002t0003g0033 a0002c0002t0004g0065 a0002c0002t0004g0071 a0002c0002t0015g0017 a0002c0002t0024g0003 a0002c0002t0027g0006 a0002c0002t0035g0026 a0002c0002t0042g0117 a0002c0010t0002g0089 a0002c0011t0011g0021 a0002c0011t0012g0027 a0003c0005t0018g0009 a0003c0005t0041g0100 a0006c0015t0022g0001	43	160	0.2688	9	c.37+ others(26): Show c.37+13918_37+13926dupTTTTTTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED11_chr17_4726428_4738607	4732420	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01071.hp1 others(18): Show HG00642.hp1 HG00735.hp2 HG01071.hp1 HG01175.hp2 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02615.hp1 HG02886.hp1 HG02896.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	21	432	0.0486	9	c.216 others(24): Show c.216+519_216+527dupAAAAAAAAA	MED11	ENSG00000161920.11	transcript	ENST00000293777.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
MED12L_chr3_151080664_151441653	151083093	C C	CTAATTAA others(2): Show CTAATTAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00621.hp1 others(38): Show HG00140.hp1 HG00544.hp2 HG00621.hp1 HG01069.hp2 HG01071.hp1 HG01952.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG03491.hp2 HG03492.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 NA18939.hp1 NA18947.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18986.hp1 NA18989.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19006.hp1 NA19010.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19084.hp2 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0020 a0001c0026 a0002c0003 a0006c0027	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0006 a0001c0002t0013 a0001c0002t0049 a0001c0004t0022 a0001c0005t0001 a0001c0008t0001 a0001c0008t0002 a0001c0008t0013 a0001c0008t0017 a0001c0008t0028 a0001c0008t0048 a0001c0011t0001 a0001c0011t0002 a0001c0013t0009 a0001c0015t0002 a0001c0020t0001 a0001c0020t0033 a0001c0026t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0006c0027t0001	a0001c0001t0002g0200 a0001c0001t0003g0012 a0001c0001t0004g0172 others(38): Show a0001c0001t0002g0200 a0001c0001t0003g0012 a0001c0001t0004g0172 a0001c0001t0013g0121 a0001c0002t0001g0106 a0001c0002t0001g0117 a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0006g0164 a0001c0002t0013g0050 a0001c0002t0049g0123 a0001c0004t0022g0107 a0001c0004t0022g0122 a0001c0005t0001g0167 a0001c0008t0001g0016 a0001c0008t0002g0010 a0001c0008t0013g0021 a0001c0008t0017g0011 a0001c0008t0028g0014 a0001c0008t0048g0009 a0001c0011t0001g0019 a0001c0011t0001g0022 a0001c0011t0001g0046 a0001c0011t0001g0047 a0001c0011t0001g0244 a0001c0011t0002g0020 a0001c0013t0009g0104 a0001c0015t0002g0013 a0001c0015t0002g0015 a0001c0015t0002g0018 a0001c0020t0001g0017 a0001c0020t0033g0023 a0001c0026t0001g0045 a0002c0003t0003g0119 a0002c0003t0003g0120 a0002c0003t0004g0118 a0002c0003t0004g0165 a0002c0003t0004g0199 a0002c0003t0005g0113 a0002c0003t0005g0114 a0006c0027t0001g0008	41	280	0.1464	9	c.-29 others(20): Show c.-2973_-2972insTAATTAATT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding		2570		chr3	TogoVar
MED12L_chr3_151080664_151441653	151206642	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01071.hp1 others(20): Show HG00140.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01175.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG02135.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG04115.hp1 HG04184.hp1 NA18906.hp2 NA18971.hp1 NA18974.hp1 NA19030.hp2 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0024 a0001c0032 a0001c0038 a0002c0003 a0003c0006 a0003c0042	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0006 a0001c0004t0021 a0001c0005t0001 a0001c0009t0012 a0001c0009t0037 a0001c0024t0002 a0001c0032t0035 a0001c0038t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0003c0006t0004 a0003c0042t0001	a0001c0001t0002g0224 a0001c0001t0003g0216 a0001c0001t0004g0172 others(20): Show a0001c0001t0002g0224 a0001c0001t0003g0216 a0001c0001t0004g0172 a0001c0001t0009g0134 a0001c0002t0001g0108 a0001c0002t0001g0163 a0001c0002t0006g0164 a0001c0004t0021g0137 a0001c0005t0001g0225 a0001c0009t0012g0133 a0001c0009t0012g0176 a0001c0009t0037g0174 a0001c0024t0002g0116 a0001c0032t0035g0130 a0001c0038t0001g0231 a0002c0003t0003g0119 a0002c0003t0003g0120 a0002c0003t0004g0072 a0002c0003t0004g0165 a0002c0003t0005g0113 a0002c0003t0005g0114 a0003c0006t0004g0157 a0003c0042t0001g0103	23	280	0.0821	9	c.225 others(30): Show c.2250+12988_2250+12996dupTTTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151311953	G G	GGCGGAGG others(2): Show GGCGGAGGTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18964.hp2 NA19058.hp1 others(1): Show HG00673.hp1 NA18964.hp2 NA19058.hp1 NA19082.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0010 a0006c0027 a0001c0002 a0001c0010 a0006c0027	a0001c0002t0001 a0001c0002t0003 a0001c0010t0002 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0010t0002 a0006c0027t0001	a0001c0002t0001g0189 a0001c0002t0003g0279 a0001c0010t0002g0253 others(1): Show a0001c0002t0001g0189 a0001c0002t0003g0279 a0001c0010t0002g0253 a0006c0027t0001g0008	4	280	0.0143	9	c.225 others(30): Show c.2251-38094_2251-38086dupGGAGGTTGC	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12_chrX_71113596_71147450	71132791	T T	TTCTCTTC others(2): Show TTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0001 a0004c0023t0001	a0004c0023t0001g0047 a0004c0023t0001g0047	1	273	0.0037	9	c.441 others(24): Show c.4416-52_4416-44dupCTCTTCTCT	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	31/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
MED13L_chr12_115953576_116282693	116024796	T T	TGTATTTA others(2): Show TGTATTTAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show HG00140.hp2 HG00323.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01168.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02293.hp1 HG02451.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03209.hp1 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG06807.hp1 NA18939.hp2 NA18949.hp1 NA18950.hp1 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18977.hp2 NA18981.hp2 NA18986.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp1 NA19090.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0006 a0001c0010 others(2): Show a0001c0002 a0001c0006 a0001c0010 a0002c0007 a0008c0011	a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 others(5): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0006t0002 a0001c0010t0001 a0002c0007t0002 a0008c0011t0002	a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0046 others(54): Show a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0156 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0237 a0001c0002t0006g0008 a0001c0002t0006g0010 a0001c0002t0006g0022 a0001c0002t0009g0030 a0001c0002t0009g0031 a0001c0002t0011g0124 a0001c0006t0002g0036 a0001c0006t0002g0037 a0001c0010t0001g0111 a0002c0007t0002g0088 a0008c0011t0002g0132	57	254	0.2244	9	c.480 others(26): Show c.480-2196_480-2195insTTTAAATAC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01123.hp1 HG02615.hp2 others(5): Show HG00597.hp2 HG01123.hp1 HG02615.hp2 HG02922.hp2 HG03209.hp2 NA18972.hp2 NA18992.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0005t0001	a0001c0001t0001g0045 a0001c0001t0001g0112 a0001c0001t0003g0015 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0112 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0014g0106 a0001c0005t0001g0097 a0001c0005t0001g0098 a0001c0005t0001g0157	8	254	0.0315	9	c.479 others(24): Show c.479+306_479+314dupTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116148051	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01346.hp1 others(3): Show HG00741.hp1 HG01071.hp2 HG01346.hp1 HG01346.hp2 HG03209.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0001t0001 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0174 a0001c0001t0005g0042 a0001c0001t0005g0144 others(3): Show a0001c0001t0001g0174 a0001c0001t0005g0042 a0001c0001t0005g0144 a0001c0002t0002g0051 a0001c0002t0002g0078 a0001c0002t0002g0085	6	254	0.0236	9	c.311 others(28): Show c.311-36548_311-36540dupTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13_chr17_61937605_62070278	62008317	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG01884.hp1 others(51): Show HG00423.hp2 HG00642.hp1 HG01884.hp1 HG01952.hp1 HG01993.hp2 HG02040.hp2 HG02080.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03486.hp1 HG03654.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18949.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18975.hp1 NA18982.hp2 NA18983.hp1 NA18993.hp1 NA19003.hp1 NA19004.hp1 NA19058.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0016 a0001c0018 a0005c0020	a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 others(12): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0023 a0001c0003t0001 a0001c0003t0006 a0001c0003t0029 a0001c0009t0001 a0001c0016t0001 a0001c0018t0001 a0005c0020t0001	a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0124 others(51): Show a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0285 a0001c0001t0010g0149 a0001c0001t0012g0143 a0001c0001t0013g0120 a0001c0001t0013g0316 a0001c0001t0019g0131 a0001c0001t0020g0135 a0001c0002t0001g0001 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0023g0039 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0105 a0001c0003t0001g0111 a0001c0003t0006g0092 a0001c0003t0006g0094 a0001c0003t0029g0091 a0001c0009t0001g0204 a0001c0016t0001g0255 a0001c0018t0001g0055 a0005c0020t0001g0104	54	326	0.1656	9	c.196 others(28): Show c.1967+2224_1967+2232dupTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	9/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62049078	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG03209.hp2 others(4): Show HG02257.hp1 HG02257.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0007 a0002c0005 a0006c0022 a0001c0007 a0002c0005 a0006c0022	a0001c0007t0005 a0002c0005t0001 a0006c0022t0005 a0001c0007t0005 a0002c0005t0001 a0006c0022t0005	a0001c0007t0005g0009 a0001c0007t0005g0010 a0001c0007t0005g0012 others(4): Show a0001c0007t0005g0009 a0001c0007t0005g0010 a0001c0007t0005g0012 a0002c0005t0001g0004 a0002c0005t0001g0005 a0002c0005t0001g0006 a0006c0022t0005g0011	7	326	0.0215	9	c.470 others(26): Show c.470+3450_470+3458dupTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	3/29			chr17	TogoVar
MED14_chrX_40643305_40740542	40721982	G G	GCCCCCCC others(2): Show GCCCCCCCCT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	251	0.0040	9	c.348 others(26): Show c.348+4763_348+4764insAGGGGGGGG	MED14	ENSG00000180182.11	transcript	ENST00000324817.6	protein_coding	3/30			chrX	TogoVar
MED15_chr22_20502610_20592619	20505559	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp1 others(21): Show HG00423.hp2 HG00544.hp2 HG00558.hp1 HG01074.hp1 HG01258.hp1 HG01358.hp1 HG01516.hp2 HG01891.hp1 HG02080.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02965.hp2 HG03041.hp2 HG03453.hp2 NA18941.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18967.hp1 NA18983.hp1 NA19002.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0211 a0001c0001t0001g0236 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0211 a0001c0001t0001g0236 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0304 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0226 a0001c0002t0002g0232 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0247 a0001c0002t0002g0252 a0001c0002t0002g0256 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0002t0002g0269 a0001c0002t0002g0275	24	341	0.0704	9	c.-21 others(20): Show c.-2120_-2119insAAAAAAAAA	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding		2050		chr22	TogoVar
MED15_chr22_20502610_20592619	20511988	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG02647.hp2 others(5): Show HG02258.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02976.hp1 HG03139.hp2 HG03579.hp1 NA20129.hp1	a0002 a0009 a0002 a0009	a0002c0003 a0009c0024 a0002c0003 a0009c0024	a0002c0003t0001 a0009c0024t0001 a0002c0003t0001 a0009c0024t0001	a0002c0003t0001g0009 a0002c0003t0001g0297 a0002c0003t0001g0298 others(4): Show a0002c0003t0001g0009 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0009c0024t0001g0311	8	341	0.0235	9	c.68+ others(24): Show c.68+4251_68+4259dupTTTTTTTTT	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr22	TogoVar
MED15_chr22_20502610_20592619	20570749	T T	TCTTTCTT others(2): Show TCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG04184.hp2 others(1): Show HG00280.hp2 HG00735.hp2 HG04184.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0107 a0002c0003t0001g0164 a0002c0003t0001g0166 others(1): Show a0001c0001t0001g0107 a0002c0003t0001g0164 a0002c0003t0001g0166 a0002c0003t0001g0180	4	341	0.0117	9	c.115 others(28): Show c.1152+2118_1152+2119insCTTTCTTTC	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	8/17			chr22	TogoVar
MED16_chr19_862963_898187	871782	G G	GCGGGGAG others(2): Show GCGGGGAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG02451.hp2 HG02886.hp2	a0001 a0001	a0001c0015 a0001c0017 a0001c0015 a0001c0017	a0001c0015t0001 a0001c0017t0001 a0001c0015t0001 a0001c0017t0001	a0001c0015t0001g0033 a0001c0017t0001g0003 a0001c0015t0001g0033 a0001c0017t0001g0003	2	56	0.0357	9	c.209 others(26): Show c.2098+143_2098+144insTTCTCCCCG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar

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