Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MCPH1_chr8_6401627_6653508	6419173	ACACACAC others(10): Show ACACACACACACACACGC	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0006 a0003c0003t0003g0006	1	262	0.0038	-17	c.233 others(34): Show c.233+4291_233+4307delCACACACACACACACGC	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	3/13			chr8	TogoVar
MCPH1_chr8_6401627_6653508	6576682	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp1 others(32): Show HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01261.hp1 HG01496.hp1 HG01934.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02630.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp2 NA18951.hp1 NA18986.hp2 NA18988.hp2 NA18999.hp1 NA19007.hp1 NA19043.hp1 NA19054.hp1 NA19062.hp1 NA19065.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0014 a0022 a0030	a0001c0001 a0001c0021 a0001c0091 others(18): Show a0001c0001 a0001c0021 a0001c0091 a0002c0002 a0002c0008 a0002c0023 a0002c0036 a0002c0090 a0003c0003 a0003c0005 a0003c0031 a0004c0006 a0005c0004 a0007c0013 a0008c0053 a0009c0076 a0010c0026 a0012c0014 a0014c0025 a0022c0038 a0030c0069	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(25): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0019 a0001c0021t0001 a0001c0091t0059 a0002c0002t0008 a0002c0002t0011 a0002c0002t0014 a0002c0008t0002 a0002c0023t0063 a0002c0036t0002 a0002c0090t0052 a0003c0003t0003 a0003c0003t0049 a0003c0005t0068 a0003c0031t0003 a0004c0006t0008 a0005c0004t0001 a0005c0004t0002 a0007c0013t0028 a0008c0053t0043 a0009c0076t0047 a0010c0026t0010 a0012c0014t0019 a0014c0025t0003 a0022c0038t0074 a0030c0069t0055	a0001c0001t0001g0159 a0001c0001t0001g0183 a0001c0001t0001g0205 others(32): Show a0001c0001t0001g0159 a0001c0001t0001g0183 a0001c0001t0001g0205 a0001c0001t0001g0262 a0001c0001t0005g0008 a0001c0001t0012g0146 a0001c0001t0019g0163 a0001c0021t0001g0217 a0001c0091t0059g0228 a0002c0002t0008g0011 a0002c0002t0008g0066 a0002c0002t0011g0037 a0002c0002t0014g0212 a0002c0008t0002g0073 a0002c0023t0063g0088 a0002c0036t0002g0188 a0002c0090t0052g0162 a0003c0003t0003g0075 a0003c0003t0003g0197 a0003c0003t0003g0203 a0003c0003t0049g0149 a0003c0005t0068g0145 a0003c0031t0003g0153 a0004c0006t0008g0083 a0005c0004t0001g0244 a0005c0004t0002g0082 a0007c0013t0028g0147 a0007c0013t0028g0148 a0008c0053t0043g0240 a0009c0076t0047g0079 a0010c0026t0010g0050 a0012c0014t0019g0232 a0014c0025t0003g0086 a0022c0038t0074g0044 a0030c0069t0055g0101	35	262	0.1336	-17	c.221 others(38): Show c.2215-44743_2215-44727delTTTTTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6578462	GAGTACAT others(10): Show GAGTACATTTTAAATGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00735.hp2 others(61): Show HG00140.hp2 HG00558.hp1 HG00735.hp2 HG00738.hp2 HG01106.hp1 HG01167.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG02055.hp2 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18942.hp2 NA18945.hp1 NA18952.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18982.hp1 NA18986.hp1 NA18994.hp1 NA19002.hp2 NA19005.hp1 NA19043.hp2 NA19054.hp2 NA19077.hp2 NA19078.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0017 a0018 a0019 a0022 a0024 a0026 a0028 a0031 a0034 a0039 a0040	a0001c0001 a0001c0007 a0001c0021 others(35): Show a0001c0001 a0001c0007 a0001c0021 a0001c0033 a0001c0065 a0002c0002 a0002c0023 a0002c0034 a0002c0090 a0003c0003 a0003c0005 a0004c0006 a0005c0004 a0006c0009 a0007c0013 a0007c0035 a0008c0049 a0008c0052 a0009c0070 a0009c0094 a0010c0015 a0011c0011 a0011c0096 a0012c0014 a0013c0042 a0015c0020 a0017c0050 a0018c0057 a0018c0060 a0019c0075 a0022c0038 a0024c0095 a0026c0082 a0028c0061 a0031c0081 a0034c0040 a0039c0063 a0040c0087	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0037 a0001c0007t0001 a0001c0007t0033 a0001c0021t0001 a0001c0033t0004 a0001c0065t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0014 a0002c0002t0021 a0002c0023t0063 a0002c0034t0073 a0002c0090t0052 a0003c0003t0003 a0003c0003t0010 a0003c0005t0006 a0003c0005t0068 a0004c0006t0002 a0005c0004t0002 a0005c0004t0045 a0006c0009t0050 a0007c0013t0003 a0007c0013t0028 a0007c0035t0003 a0008c0049t0018 a0008c0052t0064 a0009c0070t0051 a0009c0094t0077 a0010c0015t0070 a0011c0011t0001 a0011c0096t0001 a0012c0014t0001 a0012c0014t0019 a0013c0042t0004 a0015c0020t0018 a0017c0050t0007 a0018c0057t0015 a0018c0060t0036 a0019c0075t0004 a0022c0038t0074 a0022c0038t0075 a0024c0095t0031 a0026c0082t0048 a0028c0061t0007 a0031c0081t0001 a0034c0040t0015 a0039c0063t0018 a0040c0087t0002	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 others(61): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0002g0020 a0001c0001t0002g0199 a0001c0001t0005g0008 a0001c0001t0011g0202 a0001c0001t0012g0014 a0001c0001t0019g0163 a0001c0001t0037g0168 a0001c0007t0001g0124 a0001c0007t0001g0138 a0001c0007t0033g0134 a0001c0021t0001g0217 a0001c0033t0004g0036 a0001c0065t0004g0242 a0002c0002t0001g0195 a0002c0002t0002g0015 a0002c0002t0014g0212 a0002c0002t0021g0201 a0002c0023t0063g0088 a0002c0034t0073g0160 a0002c0090t0052g0162 a0003c0003t0003g0065 a0003c0003t0003g0157 a0003c0003t0010g0158 a0003c0005t0006g0152 a0003c0005t0006g0187 a0003c0005t0068g0145 a0004c0006t0002g0092 a0005c0004t0002g0082 a0005c0004t0045g0109 a0006c0009t0050g0054 a0007c0013t0003g0194 a0007c0013t0028g0147 a0007c0013t0028g0148 a0007c0035t0003g0029 a0008c0049t0018g0220 a0008c0052t0064g0231 a0009c0070t0051g0238 a0009c0094t0077g0254 a0010c0015t0070g0049 a0011c0011t0001g0048 a0011c0096t0001g0139 a0012c0014t0001g0234 a0012c0014t0019g0232 a0013c0042t0004g0034 a0015c0020t0018g0257 a0017c0050t0007g0241 a0018c0057t0015g0222 a0018c0060t0036g0223 a0019c0075t0004g0112 a0022c0038t0074g0044 a0022c0038t0075g0043 a0024c0095t0031g0005 a0026c0082t0048g0047 a0028c0061t0007g0215 a0031c0081t0001g0118 a0034c0040t0015g0064 a0039c0063t0018g0051 a0040c0087t0002g0204	64	262	0.2443	-17	c.221 others(38): Show c.2215-42982_2215-42966delTAAATGTAAGTACATTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6623688	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01070.hp2 others(30): Show HG00140.hp1 HG00735.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01256.hp2 HG01358.hp2 HG01516.hp1 HG01891.hp1 HG02280.hp1 HG02572.hp1 HG02647.hp2 HG02896.hp1 HG02970.hp2 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04204.hp1 NA18522.hp1 NA18942.hp1 NA18956.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18988.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0008 a0009 a0010 a0014 a0018 a0020 a0021 a0028 a0032 a0037	a0001c0001 a0001c0007 a0002c0002 others(16): Show a0001c0001 a0001c0007 a0002c0002 a0002c0030 a0002c0097 a0003c0005 a0003c0016 a0003c0066 a0003c0067 a0008c0054 a0009c0037 a0010c0015 a0014c0024 a0018c0058 a0020c0079 a0021c0032 a0028c0061 a0032c0041 a0037c0084	a0001c0001t0024 a0001c0007t0001 a0001c0007t0004 others(26): Show a0001c0001t0024 a0001c0007t0001 a0001c0007t0004 a0001c0007t0033 a0002c0002t0001 a0002c0002t0014 a0002c0002t0038 a0002c0030t0014 a0002c0097t0014 a0003c0005t0006 a0003c0005t0017 a0003c0005t0066 a0003c0005t0068 a0003c0005t0069 a0003c0016t0007 a0003c0016t0065 a0003c0066t0006 a0003c0067t0007 a0008c0054t0005 a0009c0037t0072 a0010c0015t0006 a0014c0024t0007 a0014c0024t0067 a0018c0058t0071 a0020c0079t0001 a0021c0032t0024 a0028c0061t0007 a0032c0041t0029 a0037c0084t0007	a0001c0001t0024g0260 a0001c0007t0001g0136 a0001c0007t0004g0135 others(30): Show a0001c0001t0024g0260 a0001c0007t0001g0136 a0001c0007t0004g0135 a0001c0007t0033g0134 a0002c0002t0001g0195 a0002c0002t0001g0198 a0002c0002t0014g0212 a0002c0002t0038g0173 a0002c0030t0014g0131 a0002c0097t0014g0126 a0003c0005t0006g0012 a0003c0005t0006g0108 a0003c0005t0006g0170 a0003c0005t0017g0184 a0003c0005t0066g0177 a0003c0005t0068g0145 a0003c0005t0069g0143 a0003c0016t0007g0130 a0003c0016t0065g0125 a0003c0066t0006g0249 a0003c0067t0007g0243 a0008c0054t0005g0236 a0009c0037t0072g0253 a0010c0015t0006g0001 a0010c0015t0006g0003 a0014c0024t0007g0080 a0014c0024t0067g0104 a0018c0058t0071g0216 a0020c0079t0001g0119 a0021c0032t0024g0213 a0028c0061t0007g0215 a0032c0041t0029g0235 a0037c0084t0007g0062	33	262	0.1260	-17	c.245 others(36): Show c.2452+2011_2452+2027delAAAAAAAAAAAAAAAAA	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP1_chr5_94698690_95290094	94912428	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0076 a0001c0004t0001g0076	1	98	0.0102	-17	c.152 others(34): Show c.1521+361_1521+377delTTTTTTTTTTTTTTTTT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	9/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95061408	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	98	0.0102	-17	c.721 others(36): Show c.721-43941_721-43925delAAAAAAAAAAAAAAAAA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95201464	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	98	0.0102	-17	c.720 others(36): Show c.720+82375_720+82391delAAAAAAAAAAAAAAAAA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94257566	GTTGTTTT others(10): Show GTTGTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp1 HG01358.hp1 others(3): Show HG00323.hp1 HG01175.hp1 HG01358.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0006t0049 a0002c0004t0010	a0001c0001t0001g0084 a0001c0001t0002g0083 a0001c0001t0002g0087 others(3): Show a0001c0001t0001g0084 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0002t0002g0080 a0001c0006t0049g0236 a0002c0004t0010g0063	6	276	0.0217	-17	c.-66 others(36): Show c.-66+25905_-66+25921delGTTTTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94318272	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02258.hp1 others(12): Show HG01243.hp2 HG02055.hp1 HG02258.hp1 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0012	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0016 a0003c0009 a0003c0026 a0004c0008 a0012c0021	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0002t0013 a0001c0002t0051 a0001c0002t0058 a0001c0005t0052 a0001c0006t0050 a0001c0016t0047 a0003c0009t0042 a0003c0026t0020 a0004c0008t0022 a0012c0021t0013	a0001c0001t0001g0074 a0001c0001t0001g0177 a0001c0001t0012g0123 others(12): Show a0001c0001t0001g0074 a0001c0001t0001g0177 a0001c0001t0012g0123 a0001c0002t0001g0003 a0001c0002t0001g0179 a0001c0002t0013g0061 a0001c0002t0051g0272 a0001c0002t0058g0234 a0001c0005t0052g0178 a0001c0006t0050g0045 a0001c0016t0047g0174 a0003c0009t0042g0276 a0003c0026t0020g0114 a0004c0008t0022g0053 a0012c0021t0013g0091	15	276	0.0544	-17	c.637 others(34): Show c.637+2648_637+2664delTTTTTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94467232	TAGGCTAC others(10): Show TAGGCTACAAAGTTAATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0275	1	276	0.0036	-17	c.236 others(36): Show c.2361-3098_2361-3082delGCTACAAAGTTAATAAG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCUR1_chr6_13781557_13819557	13809263	AACATTAT others(10): Show AACATTATACTTTAAAGT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0214 a0003c0003t0002g0214	1	424	0.0024	-17	c.416 others(34): Show c.416-2236_416-2220delACTTTAAAGTATAATGT	MCUR1	ENSG00000050393.12	transcript	ENST00000379170.9	protein_coding	1/8			chr6	TogoVar
MCU_chr10_72687143_72892694	72791472	ATTCTCTT others(10): Show ATTCTCTTTAGATAATGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	210	0.0048	-17	c.151 others(36): Show c.151-42861_151-42845delAGATAATGTTTCTCTTT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDGA1_chr6_37625679_37702883	37626617	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02165.hp2 others(2): Show HG01257.hp2 HG01258.hp1 HG02165.hp2 HG03239.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0008t0004	a0001c0001t0001g0337 a0001c0001t0002g0357 a0001c0001t0004g0258 others(2): Show a0001c0001t0001g0337 a0001c0001t0002g0357 a0001c0001t0004g0258 a0001c0002t0003g0163 a0001c0008t0004g0293	5	402	0.0124	-17	c.10 others(30): Show c.10734_*10750delAAAAAAAAAAAAAAAAA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		4061		chr6	TogoVar
MDGA2_chr14_46835092_47680605	46837480	TCATTGAC others(10): Show TCATTGACATCAACTACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0014 a0002c0002t0011g0014	1	120	0.0083	-17	c.44 others(28): Show c.4434_*4450delGGTAGTTGATGTCAATG	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding		2611		chr14	TogoVar
MDGA2_chr14_46835092_47680605	47161927	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0027 a0001c0001t0010g0027	1	120	0.0083	-17	c.596 others(36): Show c.596-17670_596-17654delAAAAAAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	3/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47563578	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0061 a0001c0001t0006g0061	1	120	0.0083	-17	c.280 others(38): Show c.280+110922_280+110938delAAAAAAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76046320	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	398	0.0025	-17	c.-18 others(28): Show c.-1840_-1824delTGTGTGTGTGTGTGTGT	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1785		chr7	TogoVar
MDN1_chr6_89637498_89824794	89670154	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0040 a0040	a0040c0035 a0040c0035	a0040c0035t0002 a0040c0035t0002	a0040c0035t0002g0073 a0040c0035t0002g0073	1	290	0.0035	-17	c.139 others(36): Show c.13956+748_13956+764delATATATATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670156	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG01069.hp1 others(5): Show HG00423.hp1 HG00558.hp1 HG01069.hp1 HG01168.hp1 HG03688.hp1 HG04204.hp1 NA18957.hp1 NA19077.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0063 a0008c0010t0002g0064 a0008c0010t0002g0068 others(5): Show a0008c0010t0002g0063 a0008c0010t0002g0064 a0008c0010t0002g0068 a0008c0010t0002g0069 a0008c0010t0002g0070 a0008c0010t0002g0071 a0008c0010t0002g0072 a0008c0010t0002g0078	8	290	0.0276	-17	c.139 others(36): Show c.13956+746_13956+762delAAATATATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670158	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04115.hp1 HG04228.hp1 others(1): Show HG03492.hp1 HG04115.hp1 HG04228.hp1 NA20905.hp2	a0006 a0008 a0041 others(1): Show a0006 a0008 a0041 a0052	a0006c0004 a0008c0010 a0041c0038 others(1): Show a0006c0004 a0008c0010 a0041c0038 a0052c0064	a0006c0004t0002 a0008c0010t0002 a0041c0038t0002 others(1): Show a0006c0004t0002 a0008c0010t0002 a0041c0038t0002 a0052c0064t0002	a0006c0004t0002g0107 a0008c0010t0002g0074 a0041c0038t0002g0235 others(1): Show a0006c0004t0002g0107 a0008c0010t0002g0074 a0041c0038t0002g0235 a0052c0064t0002g0115	4	290	0.0138	-17	c.139 others(36): Show c.13956+744_13956+760delAAAAATATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670160	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01168.hp2 others(16): Show HG00639.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01515.hp2 HG01517.hp2 HG02055.hp1 HG02602.hp2 HG02818.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03491.hp1 HG04199.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp2 homoSapiens_chm13v2.hp1	a0006 a0019 a0022 others(1): Show a0006 a0019 a0022 a0032	a0006c0004 a0019c0021 a0022c0023 others(1): Show a0006c0004 a0019c0021 a0022c0023 a0032c0057	a0006c0004t0002 a0006c0004t0006 a0019c0021t0002 others(2): Show a0006c0004t0002 a0006c0004t0006 a0019c0021t0002 a0022c0023t0002 a0032c0057t0002	a0006c0004t0002g0084 a0006c0004t0002g0103 a0006c0004t0002g0104 others(16): Show a0006c0004t0002g0084 a0006c0004t0002g0103 a0006c0004t0002g0104 a0006c0004t0002g0108 a0006c0004t0002g0109 a0006c0004t0002g0111 a0006c0004t0002g0113 a0006c0004t0002g0114 a0006c0004t0002g0117 a0006c0004t0002g0119 a0006c0004t0002g0120 a0006c0004t0002g0137 a0006c0004t0006g0083 a0006c0004t0006g0101 a0006c0004t0006g0102 a0019c0021t0002g0106 a0019c0021t0002g0110 a0022c0023t0002g0112 a0032c0057t0002g0272	19	290	0.0655	-17	c.139 others(36): Show c.13956+742_13956+758delAAAAAAATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670162	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp2 HG02615.hp1 NA18906.hp2	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0002 a0017c0018t0014 a0017c0018t0002 a0017c0018t0014	a0017c0018t0002g0076 a0017c0018t0014g0288 a0017c0018t0002g0076 a0017c0018t0014g0288	2	290	0.0069	-17	c.139 others(36): Show c.13956+740_13956+756delAAAAAAAAATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83298931	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp2 HG02897.hp1 others(2): Show HG02559.hp2 HG02895.hp2 HG02897.hp1 NA18969.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0094 a0001c0001t0001g0149 a0001c0001t0001g0150 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0176 a0001c0002t0001g0108	5	272	0.0184	-17	c.704 others(36): Show c.704+16362_704+16378delAAAAAAAAAAAAAAAAA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME2_chr18_50874118_50959257	50959166	CTCCCTCC others(10): Show CTCCCTCCCTCCCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0326 a0001c0001t0123g0326	1	342	0.0029	-17	c.11 others(30): Show c.11983_*11999delTCCCTCCCTCCCTTTCT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding		4910		chr18	TogoVar
MEAK7_chr16_84471355_84509659	84490443	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04184.hp2 NA19000.hp1 HG02738.hp1 HG04184.hp2 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0015 a0002c0003t0062 a0002c0003t0001 a0002c0003t0015 a0002c0003t0062	a0002c0003t0001g0123 a0002c0003t0015g0134 a0002c0003t0062g0147 a0002c0003t0001g0123 a0002c0003t0015g0134 a0002c0003t0062g0147	3	468	0.0064	-17	c.385 others(34): Show c.385-1038_385-1022delAAAAAAAAAAAAAAAAA	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	3/7			chr16	TogoVar
MEAK7_chr16_84471355_84509659	84509388	ACCAGGAC others(10): Show ACCAGGACCCAGGGTGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(212): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0014 a0019 a0020 a0022 a0023	a0001c0001 a0001c0002 a0001c0005 others(22): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0017 a0001c0028 a0002c0003 a0002c0007 a0002c0010 a0002c0013 a0002c0015 a0002c0019 a0003c0004 a0004c0011 a0005c0008 a0006c0009 a0007c0012 a0008c0014 a0009c0037 a0009c0038 a0014c0034 a0019c0030 a0020c0021 a0022c0041 a0023c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(137): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0030 a0001c0001t0031 a0001c0001t0045 a0001c0001t0054 a0001c0001t0055 a0001c0001t0060 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0089 a0001c0001t0102 a0001c0001t0103 a0001c0001t0125 a0001c0001t0134 a0001c0001t0144 a0001c0001t0147 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0164 a0001c0001t0170 a0001c0001t0173 a0001c0001t0174 a0001c0001t0178 a0001c0001t0180 a0001c0001t0182 a0001c0001t0185 a0001c0001t0191 a0001c0001t0192 a0001c0001t0197 a0001c0001t0198 a0001c0001t0201 a0001c0001t0202 a0001c0001t0203 a0001c0001t0206 a0001c0001t0209 a0001c0001t0211 a0001c0001t0213 a0001c0001t0220 a0001c0001t0223 a0001c0001t0228 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0022 a0001c0002t0023 a0001c0002t0026 a0001c0002t0034 a0001c0002t0038 a0001c0002t0056 a0001c0002t0061 a0001c0002t0063 a0001c0002t0066 a0001c0002t0081 a0001c0002t0082 a0001c0002t0083 a0001c0002t0110 a0001c0002t0143 a0001c0002t0146 a0001c0002t0148 a0001c0002t0151 a0001c0002t0152 a0001c0002t0153 a0001c0002t0165 a0001c0002t0169 a0001c0002t0171 a0001c0002t0176 a0001c0002t0177 a0001c0002t0181 a0001c0002t0188 a0001c0002t0189 a0001c0002t0190 a0001c0002t0195 a0001c0002t0200 a0001c0002t0214 a0001c0005t0003 a0001c0005t0064 a0001c0005t0071 a0001c0005t0141 a0001c0005t0149 a0001c0005t0179 a0001c0006t0069 a0001c0017t0022 a0001c0028t0029 a0002c0003t0007 a0002c0003t0047 a0002c0003t0062 a0002c0003t0127 a0002c0003t0128 a0002c0003t0136 a0002c0003t0210 a0002c0007t0020 a0002c0007t0218 a0002c0007t0227 a0002c0010t0044 a0002c0013t0025 a0002c0015t0183 a0002c0015t0193 a0002c0019t0027 a0003c0004t0018 a0003c0004t0107 a0003c0004t0163 a0003c0004t0187 a0003c0004t0225 a0003c0004t0226 a0004c0011t0092 a0004c0011t0094 a0004c0011t0095 a0004c0011t0097 a0005c0008t0006 a0005c0008t0008 a0006c0009t0098 a0007c0012t0037 a0008c0014t0010 a0008c0014t0046 a0009c0037t0099 a0009c0038t0114 a0014c0034t0106 a0019c0030t0205 a0020c0021t0008 a0022c0041t0063 a0023c0029t0002	a0001c0001t0001g0240 a0001c0001t0001g0268 a0001c0001t0001g0367 others(207): Show a0001c0001t0001g0240 a0001c0001t0001g0268 a0001c0001t0001g0367 a0001c0001t0001g0396 a0001c0001t0002g0368 a0001c0001t0003g0244 a0001c0001t0004g0079 a0001c0001t0004g0272 a0001c0001t0004g0306 a0001c0001t0005g0243 a0001c0001t0005g0254 a0001c0001t0005g0379 a0001c0001t0005g0384 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0395 a0001c0001t0008g0012 a0001c0001t0008g0356 a0001c0001t0008g0358 a0001c0001t0008g0359 a0001c0001t0008g0363 a0001c0001t0009g0108 a0001c0001t0009g0249 a0001c0001t0009g0250 a0001c0001t0009g0251 a0001c0001t0009g0252 a0001c0001t0011g0228 a0001c0001t0011g0229 a0001c0001t0011g0259 a0001c0001t0011g0352 a0001c0001t0012g0262 a0001c0001t0012g0411 a0001c0001t0013g0219 a0001c0001t0013g0255 a0001c0001t0013g0256 a0001c0001t0013g0392 a0001c0001t0016g0236 a0001c0001t0016g0237 a0001c0001t0016g0239 a0001c0001t0016g0247 a0001c0001t0016g0253 a0001c0001t0030g0345 a0001c0001t0030g0346 a0001c0001t0030g0371 a0001c0001t0031g0171 a0001c0001t0045g0014 a0001c0001t0054g0418 a0001c0001t0054g0419 a0001c0001t0055g0398 a0001c0001t0060g0271 a0001c0001t0067g0397 a0001c0001t0068g0245 a0001c0001t0070g0246 a0001c0001t0089g0257 a0001c0001t0102g0353 a0001c0001t0103g0415 a0001c0001t0125g0248 a0001c0001t0134g0331 a0001c0001t0144g0238 a0001c0001t0147g0230 a0001c0001t0155g0263 a0001c0001t0156g0269 a0001c0001t0157g0261 a0001c0001t0158g0400 a0001c0001t0159g0265 a0001c0001t0160g0270 a0001c0001t0164g0357 a0001c0001t0170g0329 a0001c0001t0173g0421 a0001c0001t0174g0402 a0001c0001t0178g0288 a0001c0001t0180g0231 a0001c0001t0182g0322 a0001c0001t0185g0394 a0001c0001t0191g0266 a0001c0001t0192g0401 a0001c0001t0197g0260 a0001c0001t0198g0399 a0001c0001t0201g0267 a0001c0001t0202g0264 a0001c0001t0203g0221 a0001c0001t0206g0403 a0001c0001t0209g0385 a0001c0001t0211g0417 a0001c0001t0213g0391 a0001c0001t0220g0390 a0001c0001t0223g0442 a0001c0001t0228g0444 a0001c0002t0001g0010 a0001c0002t0001g0225 a0001c0002t0001g0276 a0001c0002t0001g0287 a0001c0002t0001g0299 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0440 a0001c0002t0002g0224 a0001c0002t0002g0235 a0001c0002t0002g0295 a0001c0002t0002g0304 a0001c0002t0002g0441 a0001c0002t0003g0409 a0001c0002t0004g0282 a0001c0002t0004g0297 a0001c0002t0004g0300 a0001c0002t0004g0310 a0001c0002t0004g0311 a0001c0002t0004g0316 a0001c0002t0004g0407 a0001c0002t0006g0279 a0001c0002t0006g0291 a0001c0002t0006g0323 a0001c0002t0006g0420 a0001c0002t0012g0226 a0001c0002t0012g0273 a0001c0002t0012g0274 a0001c0002t0012g0303 a0001c0002t0022g0202 a0001c0002t0023g0305 a0001c0002t0026g0309 a0001c0002t0034g0175 a0001c0002t0034g0280 a0001c0002t0034g0284 a0001c0002t0038g0302 a0001c0002t0038g0307 a0001c0002t0056g0319 a0001c0002t0056g0320 a0001c0002t0061g0283 a0001c0002t0061g0285 a0001c0002t0063g0289 a0001c0002t0066g0203 a0001c0002t0081g0325 a0001c0002t0082g0308 a0001c0002t0083g0194 a0001c0002t0110g0278 a0001c0002t0143g0328 a0001c0002t0146g0301 a0001c0002t0148g0234 a0001c0002t0151g0298 a0001c0002t0152g0318 a0001c0002t0153g0321 a0001c0002t0165g0275 a0001c0002t0169g0293 a0001c0002t0171g0365 a0001c0002t0176g0312 a0001c0002t0177g0364 a0001c0002t0181g0222 a0001c0002t0188g0366 a0001c0002t0189g0286 a0001c0002t0190g0317 a0001c0002t0195g0294 a0001c0002t0200g0281 a0001c0002t0214g0292 a0001c0005t0003g0360 a0001c0005t0003g0361 a0001c0005t0064g0362 a0001c0005t0071g0410 a0001c0005t0141g0351 a0001c0005t0149g0296 a0001c0005t0179g0406 a0001c0006t0069g0446 a0001c0006t0069g0447 a0001c0017t0022g0201 a0001c0028t0029g0324 a0002c0003t0007g0227 a0002c0003t0047g0380 a0002c0003t0047g0381 a0002c0003t0062g0382 a0002c0003t0127g0223 a0002c0003t0128g0404 a0002c0003t0136g0350 a0002c0003t0210g0378 a0002c0007t0020g0373 a0002c0007t0020g0386 a0002c0007t0020g0388 a0002c0007t0218g0387 a0002c0007t0227g0445 a0002c0010t0044g0349 a0002c0013t0025g0017 a0002c0015t0183g0070 a0002c0015t0193g0071 a0002c0019t0027g0343 a0002c0019t0027g0405 a0003c0004t0018g0347 a0003c0004t0018g0413 a0003c0004t0018g0414 a0003c0004t0107g0437 a0003c0004t0163g0326 a0003c0004t0187g0327 a0003c0004t0225g0449 a0003c0004t0226g0443 a0004c0011t0092g0369 a0004c0011t0094g0374 a0004c0011t0095g0376 a0004c0011t0097g0375 a0005c0008t0006g0355 a0005c0008t0008g0011 a0006c0009t0098g0348 a0007c0012t0037g0334 a0007c0012t0037g0370 a0008c0014t0010g0013 a0008c0014t0046g0372 a0009c0037t0099g0016 a0009c0038t0114g0389 a0014c0034t0106g0377 a0019c0030t0205g0408 a0020c0021t0008g0354 a0022c0041t0063g0290 a0023c0029t0002g0258	215	468	0.4594	-17	c.-48 others(28): Show c.-4830_-4814delGTCACCCTGGGTCCTGG	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding		4730		chr16	TogoVar
MECOM_chr3_169078507_169668712	169370354	CACCATAC others(10): Show CACCATACAAAAAACTCA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18522.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0031 a0001c0001t0006g0124 a0001c0001t0003g0031 a0001c0001t0006g0124	2	160	0.0125	-17	c.375 others(36): Show c.375+10816_375+10832delTGAGTTTTTTGTATGGT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169382857	AAAAAAAA others(10): Show AAAAAAAATAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0079 a0001c0001t0010g0079	1	160	0.0063	-17	c.38- others(32): Show c.38-1350_38-1334delATTTTTTTTATTTTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169661691	CCTGCTGA others(10): Show CCTGCTGAGGTGCCGCCG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0148 a0001c0001t0014g0148	1	160	0.0063	-17	c.37+ others(32): Show c.37+1628_37+1644delCGGCGGCACCTCAGCAG	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151081352	CCTTCCCT others(10): Show CCTTCCCTTCCCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	280	0.0036	-17	c.-47 others(28): Show c.-4713_-4697delCTTCCCTTCCCTTCCCT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding		4311		chr3	TogoVar
MED12L_chr3_151080664_151441653	151106296	TTTCCTTT others(10): Show TTTCCTTTTCCTTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(69): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00733.hp1 HG01069.hp1 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp2 HG02074.hp2 HG02083.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03834.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18942.hp2 NA18947.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18989.hp1 NA18990.hp2 NA19000.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19062.hp2 NA19063.hp2 NA19076.hp1 NA19077.hp1 NA19087.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0023 a0001c0041 a0002c0003 a0004c0016 a0004c0042 a0008c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0013 a0001c0002t0014 a0001c0002t0016 a0001c0002t0017 a0001c0002t0027 a0001c0002t0029 a0001c0002t0030 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0009t0043 a0001c0010t0001 a0001c0010t0002 a0001c0010t0005 a0001c0010t0044 a0001c0012t0002 a0001c0013t0010 a0001c0023t0042 a0001c0041t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0003t0041 a0004c0016t0001 a0004c0016t0016 a0004c0016t0025 a0004c0016t0057 a0004c0042t0039 a0008c0025t0001	a0001c0001t0001g0111 a0001c0001t0002g0087 a0001c0001t0002g0125 others(69): Show a0001c0001t0001g0111 a0001c0001t0002g0087 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0160 a0001c0001t0003g0058 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0008g0084 a0001c0001t0009g0081 a0001c0001t0023g0082 a0001c0001t0036g0059 a0001c0002t0001g0055 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0074 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0148 a0001c0002t0001g0171 a0001c0002t0002g0066 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0112 a0001c0002t0004g0048 a0001c0002t0004g0063 a0001c0002t0004g0149 a0001c0002t0013g0050 a0001c0002t0014g0075 a0001c0002t0014g0076 a0001c0002t0016g0051 a0001c0002t0017g0068 a0001c0002t0027g0178 a0001c0002t0029g0085 a0001c0002t0030g0090 a0001c0004t0001g0089 a0001c0004t0002g0143 a0001c0004t0005g0070 a0001c0005t0001g0088 a0001c0005t0001g0139 a0001c0005t0002g0077 a0001c0009t0043g0026 a0001c0010t0001g0061 a0001c0010t0001g0083 a0001c0010t0002g0100 a0001c0010t0005g0060 a0001c0010t0044g0095 a0001c0012t0002g0064 a0001c0013t0010g0079 a0001c0023t0042g0161 a0001c0041t0001g0096 a0002c0003t0002g0056 a0002c0003t0004g0053 a0002c0003t0004g0069 a0002c0003t0004g0071 a0002c0003t0004g0072 a0002c0003t0004g0073 a0002c0003t0004g0078 a0002c0003t0004g0086 a0002c0003t0004g0091 a0002c0003t0004g0145 a0002c0003t0006g0049 a0002c0003t0041g0146 a0004c0016t0001g0147 a0004c0016t0016g0080 a0004c0016t0025g0067 a0004c0016t0057g0099 a0004c0042t0039g0144 a0008c0025t0001g0054	72	280	0.2571	-17	c.100 others(36): Show c.100-10041_100-10025delTTCCTTTTCCTTCTCCC	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	2/44			chr3	TogoVar
MED12L_chr3_151080664_151441653	151115327	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0107 a0001c0004t0022g0107	1	280	0.0036	-17	c.100 others(32): Show c.100-988_100-972delTTTTTTTTTTTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	2/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151152085	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0248 a0002c0003t0004g0248	1	280	0.0036	-17	c.557 others(34): Show c.557-4061_557-4045delTTTTTTTTTTTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151162324	GACTTGAC others(10): Show GACTTGACATTCTTTGTA	G G	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0047 a0001c0011t0001g0047	1	280	0.0036	-17	c.110 others(36): Show c.1108-1568_1108-1552delACTTGACATTCTTTGTA	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	8/44			chr3	TogoVar
MED12L_chr3_151080664_151441653	151317436	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0018 a0001c0034t0018	a0001c0034t0018g0170 a0001c0034t0018g0170	1	280	0.0036	-17	c.225 others(38): Show c.2251-32609_2251-32593delTTTTTTTTTTTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151343746	GTGGCTTA others(10): Show GTGGCTTAACTGGTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG00621.hp2 others(91): Show HG00408.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18986.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19076.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0007 others(18): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0017 a0001c0018 a0001c0020 a0001c0022 a0001c0023 a0001c0024 a0001c0033 a0001c0039 a0001c0040 a0002c0003 a0003c0006 a0003c0043 a0006c0030 a0007c0028 a0009c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0023 a0001c0001t0036 a0001c0001t0047 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0016 a0001c0002t0049 a0001c0002t0053 a0001c0007t0001 a0001c0007t0007 a0001c0008t0002 a0001c0008t0017 a0001c0008t0028 a0001c0008t0048 a0001c0010t0001 a0001c0010t0002 a0001c0013t0010 a0001c0013t0024 a0001c0013t0050 a0001c0017t0007 a0001c0017t0024 a0001c0017t0052 a0001c0018t0002 a0001c0018t0009 a0001c0020t0033 a0001c0022t0003 a0001c0022t0019 a0001c0023t0042 a0001c0024t0002 a0001c0033t0035 a0001c0039t0001 a0001c0040t0018 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0014 a0002c0003t0046 a0003c0006t0003 a0003c0043t0001 a0006c0030t0034 a0007c0028t0001 a0009c0029t0054	a0001c0001t0001g0111 a0001c0001t0001g0209 a0001c0001t0001g0213 others(91): Show a0001c0001t0001g0111 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0002g0052 a0001c0001t0002g0087 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0196 a0001c0001t0002g0212 a0001c0001t0002g0224 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0003g0012 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0004g0172 a0001c0001t0004g0217 a0001c0001t0009g0081 a0001c0001t0013g0121 a0001c0001t0019g0193 a0001c0001t0023g0082 a0001c0001t0036g0059 a0001c0001t0047g0207 a0001c0001t0051g0263 a0001c0002t0001g0106 a0001c0002t0001g0117 a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0001g0180 a0001c0002t0001g0189 a0001c0002t0002g0220 a0001c0002t0002g0232 a0001c0002t0003g0279 a0001c0002t0007g0168 a0001c0002t0016g0051 a0001c0002t0049g0123 a0001c0002t0053g0005 a0001c0007t0001g0040 a0001c0007t0007g0033 a0001c0007t0007g0034 a0001c0007t0007g0036 a0001c0007t0007g0128 a0001c0008t0002g0010 a0001c0008t0017g0011 a0001c0008t0028g0014 a0001c0008t0048g0009 a0001c0010t0001g0061 a0001c0010t0001g0083 a0001c0010t0002g0253 a0001c0013t0010g0039 a0001c0013t0010g0079 a0001c0013t0024g0004 a0001c0013t0050g0109 a0001c0017t0007g0202 a0001c0017t0024g0002 a0001c0017t0052g0001 a0001c0018t0002g0038 a0001c0018t0009g0028 a0001c0020t0033g0023 a0001c0022t0003g0208 a0001c0022t0019g0264 a0001c0023t0042g0161 a0001c0024t0002g0115 a0001c0024t0002g0116 a0001c0033t0035g0130 a0001c0039t0001g0231 a0001c0040t0018g0169 a0002c0003t0002g0056 a0002c0003t0003g0119 a0002c0003t0003g0120 a0002c0003t0004g0165 a0002c0003t0004g0182 a0002c0003t0006g0049 a0002c0003t0014g0211 a0002c0003t0046g0204 a0003c0006t0003g0102 a0003c0006t0003g0152 a0003c0043t0001g0103 a0006c0030t0034g0261 a0007c0028t0001g0008 a0009c0029t0054g0006	94	280	0.3357	-17	c.225 others(36): Show c.2251-6311_2251-6295delGGCTTAACTGGTTTGTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116031666	GAGAAAAG others(10): Show GAGAAAAGAAAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	254	0.0039	-17	c.480 others(34): Show c.480-9082_480-9066delTTTCTTTTTTCTTTTCT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116031725	GAAAAGAA others(10): Show GAAAAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	254	0.0039	-17	c.480 others(34): Show c.480-9141_480-9125delTTCTTTTCTTTTCTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116031735	GAAAAGAA others(10): Show GAAAAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02451.hp2 HG01123.hp2 HG02451.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0021 a0001c0001 a0005c0021	a0001c0001t0001 a0005c0021t0001 a0001c0001t0001 a0005c0021t0001	a0001c0001t0001g0135 a0005c0021t0001g0218 a0001c0001t0001g0135 a0005c0021t0001g0218	2	254	0.0079	-17	c.480 others(34): Show c.480-9151_480-9135delTTCTTTTCTTTTCTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116031738	AAGAAAAG others(10): Show AAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	254	0.0039	-17	c.480 others(34): Show c.480-9154_480-9138delCTTTTCTTTTCTTTTCT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116102697	CTTTTTCT others(10): Show CTTTTTCTTTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show HG02717.hp2 HG02922.hp2 HG03195.hp2 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0096 a0001c0005t0001g0097 a0001c0005t0001g0098 others(2): Show a0001c0005t0001g0096 a0001c0005t0001g0097 a0001c0005t0001g0098 a0001c0005t0001g0099 a0001c0005t0001g0158	5	254	0.0197	-17	c.396 others(34): Show c.396-5962_396-5946delAAAAGAAAAAAGAAAAA	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	3/30			chr12	TogoVar
MED13_chr17_61937605_62070278	62015942	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	326	0.0031	-17	c.128 others(36): Show c.1284-4726_1284-4710delAAAAATATATATATATA	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62015946	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0256 a0001c0017t0001g0256	1	326	0.0031	-17	c.128 others(36): Show c.1284-4730_1284-4714delAAAAAAAAATATATATA	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62015950	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0110	1	326	0.0031	-17	c.128 others(36): Show c.1284-4734_1284-4718delAAAAAAAAAAAAATATA	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62043168	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	326	0.0031	-17	c.471 others(34): Show c.471-7577_471-7561delCTTTTTTTTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	3/29			chr17	TogoVar
MED16_chr19_862963_898187	873308	GGGGCGGG others(10): Show GGGGCGGGACTCCAAGTA	G G	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0001 a0017c0015t0001	a0017c0015t0001g0022 a0017c0015t0001g0022	1	56	0.0179	-17	c.190 others(34): Show c.1905+124_1905+140delTACTTGGAGTCCCGCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
MED1_chr17_39399285_39456263	39442080	ACGACAGA others(10): Show ACGACAGAGTGAGACACT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG01109.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0272 a0001c0001t0001g0273	2	280	0.0071	-17	c.212 others(34): Show c.212-1420_212-1404delAGTGTCTCACTCTGTCG	MED1	ENSG00000125686.12	transcript	ENST00000300651.11	protein_coding	3/16			chr17	TogoVar
MED28_chr4_17609641_17639105	17618747	CTGCCTTC others(10): Show CTGCCTTCCTAGTTAGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(210): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(89): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0002t0020 a0001c0002t0139 a0001c0003t0001 a0001c0003t0003 a0001c0004t0020	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(141): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0098 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0017 a0001c0001t0003g0056 a0001c0001t0004g0001 a0001c0001t0004g0006 a0001c0001t0004g0018 a0001c0001t0004g0048 a0001c0001t0007g0001 a0001c0001t0007g0011 a0001c0001t0007g0106 a0001c0001t0008g0001 a0001c0001t0008g0004 a0001c0001t0008g0006 a0001c0001t0011g0001 a0001c0001t0011g0052 a0001c0001t0015g0006 a0001c0001t0015g0019 a0001c0001t0015g0049 a0001c0001t0016g0001 a0001c0001t0016g0011 a0001c0001t0019g0001 a0001c0001t0019g0014 a0001c0001t0021g0066 a0001c0001t0021g0070 a0001c0001t0022g0020 a0001c0001t0022g0069 a0001c0001t0030g0016 a0001c0001t0030g0100 a0001c0001t0036g0001 a0001c0001t0037g0001 a0001c0001t0037g0061 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0040g0025 a0001c0001t0040g0058 a0001c0001t0041g0008 a0001c0001t0041g0046 a0001c0001t0042g0001 a0001c0001t0042g0047 a0001c0001t0043g0001 a0001c0001t0044g0067 a0001c0001t0045g0020 a0001c0001t0046g0068 a0001c0001t0047g0020 a0001c0001t0051g0065 a0001c0001t0087g0103 a0001c0001t0088g0105 a0001c0001t0089g0036 a0001c0001t0090g0104 a0001c0001t0091g0036 a0001c0001t0092g0016 a0001c0001t0093g0102 a0001c0001t0094g0101 a0001c0001t0095g0099 a0001c0001t0096g0016 a0001c0001t0097g0016 a0001c0001t0106g0010 a0001c0001t0107g0001 a0001c0001t0108g0055 a0001c0001t0109g0001 a0001c0001t0110g0001 a0001c0001t0111g0012 a0001c0001t0112g0012 a0001c0001t0113g0012 a0001c0001t0114g0012 a0001c0001t0115g0012 a0001c0001t0116g0040 a0001c0001t0117g0001 a0001c0001t0118g0001 a0001c0001t0119g0011 a0001c0001t0120g0006 a0001c0001t0121g0006 a0001c0001t0122g0008 a0001c0001t0123g0006 a0001c0001t0124g0010 a0001c0001t0125g0004 a0001c0001t0126g0037 a0001c0001t0127g0001 a0001c0001t0128g0001 a0001c0001t0129g0050 a0001c0001t0130g0001 a0001c0001t0131g0019 a0001c0001t0132g0044 a0001c0001t0133g0001 a0001c0001t0134g0001 a0001c0001t0135g0025 a0001c0001t0136g0045 a0001c0001t0137g0001 a0001c0001t0138g0011 a0001c0001t0140g0001 a0001c0001t0141g0001 a0001c0001t0142g0004 a0001c0001t0143g0001 a0001c0001t0144g0001 a0001c0001t0145g0001 a0001c0001t0146g0038 a0001c0001t0147g0023 a0001c0001t0148g0023 a0001c0001t0149g0073 a0001c0001t0150g0064 a0001c0001t0151g0071 a0001c0001t0152g0072 a0001c0001t0155g0027 a0001c0001t0156g0027 a0001c0001t0157g0028 a0001c0001t0158g0028 a0001c0002t0020g0013 a0001c0002t0139g0013 a0001c0003t0001g0001 a0001c0003t0003g0004 a0001c0004t0020g0013	213	328	0.6494	-17	c.160 others(34): Show c.160-1152_160-1136delGCCTTCCTAGTTAGGAT	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
MED28_chr4_17609641_17639105	17623146	ATCCTAGC others(10): Show ATCCTAGCACTTTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02922.hp1 others(2): Show HG01243.hp2 HG02615.hp2 HG02922.hp1 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 others(2): Show a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091	a0001c0001t0087g0103 a0001c0001t0088g0105 a0001c0001t0089g0036 others(2): Show a0001c0001t0087g0103 a0001c0001t0088g0105 a0001c0001t0089g0036 a0001c0001t0090g0104 a0001c0001t0091g0036	5	328	0.0152	-17	c.340 others(32): Show c.340-454_340-438delTCCTAGCACTTTGGGAG	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	3/3			chr4	TogoVar
MED28_chr4_17609641_17639105	17632043	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp2 HG03486.hp2 NA19030.hp2 HG03471.hp2 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0044 a0001c0001t0022 a0001c0001t0044	a0001c0001t0022g0020 a0001c0001t0022g0069 a0001c0001t0044g0067 a0001c0001t0022g0020 a0001c0001t0022g0069 a0001c0001t0044g0067	3	328	0.0092	-17	c.82 others(28): Show c.8273_*8289delTTTTTTTTTTTTTTTTT	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	4/4	8273	INFO_REALIGN_3_PRIME	chr4	TogoVar

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