Joint Open Genome and Omics Platform (JoGo)

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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
SMAD2_chr18_47803957_47935659	47919466	AAATACAC others(10): Show AAATACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0244 a0001c0001t0244	a0001c0001t0244g0008 a0001c0001t0244g0008	1	295	0.0034	-17	c.-54 others(36): Show c.-54+10878_-54+10894delGTGTGTGTGTGTGTATT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	1/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67160770	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03540.hp1 HG03579.hp1 HG01243.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0044 a0001c0002t0035 a0001c0001t0004 a0001c0001t0044 a0001c0002t0035	a0001c0001t0004g0307 a0001c0001t0044g0194 a0001c0002t0035g0053 a0001c0001t0004g0307 a0001c0001t0044g0194 a0001c0002t0035g0053	3	5	0.6000	-17	c.207 others(34): Show c.207-4099_207-4083delAAAAAAAAAAAAAAAAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD6_chr15_66697236_66787849	66748968	CCGGTGCC others(10): Show CCGGTGCCCAGTCTAATT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	334	0.0030	-17	c.953 others(36): Show c.953-32027_953-32011delGGTGCCCAGTCTAATTC	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD7_chr18_48914853_48955965	48936100	ACACACAC others(10): Show ACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG03017.hp2 others(1): Show HG02622.hp2 HG02717.hp1 HG03017.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0001g0262 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0001g0262 a0001c0001t0002g0089	4	396	0.0101	-17	c.742 others(34): Show c.742+6364_742+6380delGTGTGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD9_chr13_36839831_36925238	36905774	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG01346.hp2 others(39): Show HG00639.hp1 HG01192.hp2 HG01346.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG02040.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp1 HG02723.hp1 HG02976.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03927.hp1 HG04115.hp1 NA18747.hp1 NA18945.hp2 NA18951.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18966.hp1 NA18980.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19064.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0025 a0001c0001t0052 a0001c0001t0057 a0001c0001t0058 a0001c0001t0067 a0001c0001t0080 a0001c0004t0068	a0001c0001t0003g0002 a0001c0001t0003g0131 a0001c0001t0003g0154 others(38): Show a0001c0001t0003g0002 a0001c0001t0003g0131 a0001c0001t0003g0154 a0001c0001t0003g0202 a0001c0001t0004g0092 a0001c0001t0004g0130 a0001c0001t0004g0144 a0001c0001t0004g0155 a0001c0001t0004g0162 a0001c0001t0005g0089 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0143 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0156 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0007g0140 a0001c0001t0007g0142 a0001c0001t0008g0149 a0001c0001t0010g0145 a0001c0001t0018g0350 a0001c0001t0018g0351 a0001c0001t0018g0353 a0001c0001t0018g0354 a0001c0001t0018g0355 a0001c0001t0025g0138 a0001c0001t0025g0139 a0001c0001t0025g0150 a0001c0001t0052g0135 a0001c0001t0057g0141 a0001c0001t0058g0137 a0001c0001t0067g0159 a0001c0001t0080g0352 a0001c0004t0068g0129	42	62	0.6774	-17	c.-18 others(38): Show c.-187+14325_-187+14341delTTTTTTTTTTTTTTTTT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAP1_chr6_70662883_70867003	70682170	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00597.hp1 others(49): Show HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG01243.hp1 HG01884.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04204.hp2 NA18939.hp2 NA18943.hp1 NA18955.hp1 NA18962.hp2 NA18969.hp1 NA18973.hp2 NA18991.hp1 NA19000.hp1 NA19007.hp2 NA19043.hp2 NA19066.hp1 NA19079.hp1 NA19085.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015	a0001c0001t0001g0002 a0001c0001t0001g0124 a0001c0001t0001g0126 others(48): Show a0001c0001t0001g0002 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0006g0171 a0001c0001t0007g0173 a0001c0001t0008g0131 a0001c0001t0008g0163 a0001c0001t0015g0129	52	90	0.5778	-17	c.118 others(36): Show c.118+14049_118+14065delTTTTTTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70840577	GATCATGC others(10): Show GATCATGCTTGTGTTCCT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02280.hp2 others(8): Show HG01884.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02809.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0019 a0002c0002t0001 a0002c0002t0002 a0001c0001t0019 a0002c0002t0001 a0002c0002t0002	a0001c0001t0019g0004 a0002c0002t0001g0031 a0002c0002t0002g0267 others(8): Show a0001c0001t0019g0004 a0002c0002t0001g0031 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0281 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0303	11	304	0.0362	-17	c.664 others(34): Show c.664+3554_664+3570delTGCTTGTGTTCCTATCA	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70846206	CCCACAAA others(10): Show CCCACAAAAGTAGGATCA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02698.hp1 HG01192.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0117 a0001c0001t0009g0118 a0001c0001t0009g0117 a0001c0001t0009g0118	2	304	0.0066	-17	c.665 others(34): Show c.665-6331_665-6315delACAAAAGTAGGATCACC	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA1_chrX_129441506_129528490	129504565	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	277	0.0036	-17	c.116 others(34): Show c.1167+152_1167+168delGTTTTTTTTTTTTTTTT	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	9/24			chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2139969	TTGACCTA others(10): Show TTGACCTATTCCCAGGAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0068 a0002c0005t0001g0068	1	314	0.0032	-17	c.398 others(38): Show c.3981+16037_3981+16053delCTATTCCCAGGAATGAC	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2156414	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01928.hp1 HG01934.hp2 HG01255.hp1 HG01928.hp1 HG01934.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0035 a0003c0006 a0001c0001 a0002c0035 a0003c0006	a0001c0001t0002 a0002c0035t0001 a0003c0006t0002 a0001c0001t0002 a0002c0035t0001 a0003c0006t0002	a0001c0001t0002g0211 a0002c0035t0001g0047 a0003c0006t0002g0210 a0001c0001t0002g0211 a0002c0035t0001g0047 a0003c0006t0002g0210	3	15	0.2000	-17	c.398 others(36): Show c.3982-5256_3982-5240delTTTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	10974685	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	276	0.0036	-17	c.-31 others(34): Show c.-31-9434_-31-9418delATATTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11061205	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	274	0.0036	-17	c.491 others(34): Show c.4912-578_4912-562delTATATATATATATATAT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34			chr19	TogoVar
SMARCAL1_chr2_216407484_216488053	216411392	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0167	1	27	0.0370	-17	c.-13 others(28): Show c.-1351_-1335delAAAAAAAAAAAAAAAAA	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding		1091		chr2	TogoVar
SMARCB1_chr22_23781966_23843009	23830649	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp1 others(82): Show HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp2 HG03654.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp1 NA18949.hp2 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp2 NA18993.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19087.hp2 NA19088.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0002c0003t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0281 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0007g0003 a0001c0001t0007g0124 a0001c0001t0007g0127 a0001c0001t0007g0130 a0001c0001t0007g0133 a0001c0001t0007g0135 a0001c0001t0007g0138 a0001c0001t0007g0145 a0001c0001t0007g0152 a0001c0001t0007g0155 a0001c0001t0007g0167 a0001c0001t0008g0001 a0001c0001t0008g0010 a0001c0001t0008g0102 a0001c0001t0008g0103 a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0112 a0001c0001t0008g0121 a0001c0001t0008g0129 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0008g0147 a0001c0001t0008g0156 a0001c0001t0008g0160 a0001c0001t0008g0171 a0001c0001t0017g0045 a0001c0001t0045g0064 a0001c0001t0046g0134 a0001c0001t0047g0009 a0001c0001t0052g0143 a0001c0001t0053g0148 a0001c0001t0054g0285 a0002c0003t0007g0090	85	110	0.7727	-17	c.987 others(34): Show c.987-2906_987-2890delTTTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47708083	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	99	0.0101	-17	c.919 others(34): Show c.919-1570_919-1554delAAAAAAAAAAAAAAAAA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	9/27			chr3	TogoVar
SMC1B_chr22_45339063_45418599	45409593	TAAATAAA others(10): Show TAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0287 a0004c0005t0001g0287	1	358	0.0028	-17	c.110 others(32): Show c.110-712_110-696delTATTTATTTATTTATTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	1/24			chr22	TogoVar
SMC3_chr10_110562695_110611048	110569936	CTGCTGTT others(10): Show CTGCTGTTGACACAGTTT	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19065.hp1 NA18952.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	326	0.0061	-17	c.91+ others(30): Show c.91+930_91+946delTGACACAGTTTTGCTGT	SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
SMC5_chr9_70253978_70359873	70271141	GTTTTGGA others(10): Show GTTTTGGATTTTGGAGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(234): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18979.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0007 a0010 a0013 a0014 a0015 a0016	a0001c0001 a0001c0005 a0001c0010 others(8): Show a0001c0001 a0001c0005 a0001c0010 a0003c0003 a0005c0007 a0007c0012 a0010c0022 a0013c0019 a0014c0018 a0015c0017 a0016c0016	a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 others(16): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0005t0003 a0001c0010t0002 a0003c0003t0001 a0003c0003t0008 a0003c0003t0020 a0005c0007t0002 a0007c0012t0001 a0010c0022t0012 a0013c0019t0003 a0014c0018t0001 a0015c0017t0002 a0016c0016t0002	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0015 others(217): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0306 a0001c0001t0002g0309 a0001c0001t0002g0340 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0286 a0001c0001t0015g0261 a0001c0001t0016g0290 a0001c0001t0017g0214 a0001c0001t0021g0310 a0001c0001t0023g0247 a0001c0005t0003g0023 a0001c0005t0003g0024 a0001c0005t0003g0025 a0001c0005t0003g0026 a0001c0005t0003g0027 a0001c0005t0003g0028 a0001c0005t0003g0029 a0001c0010t0002g0021 a0001c0010t0002g0258 a0001c0010t0002g0275 a0003c0003t0001g0004 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0106 a0003c0003t0001g0119 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0193 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0302 a0003c0003t0001g0305 a0003c0003t0001g0307 a0003c0003t0001g0339 a0003c0003t0008g0171 a0003c0003t0008g0194 a0003c0003t0008g0196 a0003c0003t0020g0190 a0005c0007t0002g0016 a0005c0007t0002g0265 a0005c0007t0002g0266 a0005c0007t0002g0267 a0005c0007t0002g0268 a0007c0012t0001g0107 a0007c0012t0001g0175 a0010c0022t0012g0149 a0013c0019t0003g0022 a0014c0018t0001g0192 a0015c0017t0002g0210 a0016c0016t0002g0294	237	364	0.6511	-17	c.380 others(34): Show c.380+3182_380+3198delCATTTTGGATTTTGGAG	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMCO1_chr3_196501879_196520346	196515983	GATAGGAT others(10): Show GATAGGATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG03688.hp1 HG00099.hp1 HG03688.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0004 a0001c0001t0002 a0005c0005t0004	a0001c0001t0002g0009 a0005c0005t0004g0048 a0001c0001t0002g0009 a0005c0005t0004g0048	2	278	0.0072	-17	c.-79 others(26): Show c.-791_-775delATATATATATATCCTAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		638		chr3	TogoVar
SMCO2_chr12_27441736_27507185	27484862	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00733.hp2 others(77): Show HG00544.hp1 HG00558.hp2 HG00733.hp2 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01981.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03225.hp1 HG03239.hp1 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19066.hp2 NA19072.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0003t0001	a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 others(57): Show a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0221 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0080 a0002c0002t0002g0088 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0135 a0002c0002t0002g0138 a0002c0002t0004g0025 a0002c0002t0004g0184 a0002c0003t0001g0192 a0002c0003t0001g0222	80	358	0.2235	-17	c.513 others(34): Show c.513-3596_513-3580delAAAAAAAAATATATATA	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMG1_chr16_18799860_18931408	18803059	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18522.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0222 a0001c0009t0008g0224 a0001c0009t0008g0222 a0001c0009t0008g0224	2	95	0.0211	-17	c.64 others(28): Show c.6493_*6509delAAAAAAAAAAAAAAAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding		1800		chr16	TogoVar
SMG1_chr16_18799860_18931408	18853984	AAACTCCT others(10): Show AAACTCCTATGCTCAAGC	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	298	0.0034	-17	c.448 others(34): Show c.4484-134_4484-118delGCTTGAGCATAGGAGTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	30/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18874866	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	11	0.0909	-17	c.189 others(36): Show c.1890+1241_1890+1257delTTTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	13/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18887762	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA18974.hp2 NA19056.hp2 HG01169.hp2 NA18974.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0074 a0001c0002t0002g0225 a0001c0002t0002g0231 a0001c0001t0001g0074 a0001c0002t0002g0225 a0001c0002t0002g0231	3	20	0.1500	-17	c.822 others(34): Show c.822+1593_822+1609delTTTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2156393	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02015.hp2 HG02040.hp2 others(13): Show HG00621.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02258.hp2 HG02698.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 NA18975.hp1 NA19011.hp1 NA20752.hp2	a0006 a0015 a0016 others(1): Show a0006 a0015 a0016 a0018	a0006c0005 a0006c0025 a0006c0032 others(3): Show a0006c0005 a0006c0025 a0006c0032 a0015c0027 a0016c0014 a0018c0016	a0006c0005t0004 a0006c0005t0006 a0006c0005t0007 others(7): Show a0006c0005t0004 a0006c0005t0006 a0006c0005t0007 a0006c0005t0011 a0006c0005t0013 a0006c0025t0011 a0006c0032t0007 a0015c0027t0005 a0016c0014t0012 a0018c0016t0001	a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 others(13): Show a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 a0006c0005t0007g0113 a0006c0005t0007g0114 a0006c0005t0007g0115 a0006c0005t0007g0117 a0006c0005t0011g0122 a0006c0005t0011g0124 a0006c0005t0013g0118 a0006c0005t0013g0120 a0006c0025t0011g0112 a0006c0032t0007g0123 a0015c0027t0005g0221 a0016c0014t0012g0135 a0018c0016t0001g0002	16	42	0.3810	-17	c.335 others(38): Show c.3357+16248_3357+16264delTTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2230205	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	276	0.0036	-17	c.286 others(36): Show c.2869+6270_2869+6286delCTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMG8_chr17_59205035_59220230	59215369	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02074.hp1 HG00673.hp2 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	6	0.3333	-17	c.36 others(26): Show c.368_*384delTTTTTTTTTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		140		chr17	TogoVar
SMIM10_chrX_134985991_134997473	134986626	ATTTATTT others(10): Show ATTTATTTATTTATTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03704.hp2 others(1): Show HG03139.hp1 HG03209.hp1 HG03704.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(1): Show a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000	4	258	0.0155	-17	c.-44 others(28): Show c.-4469_-4453delTTTATTTATTTATTTTC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4364		chrX	TogoVar
SMIM13_chr6_11088834_11143733	11127843	GGACACAG others(10): Show GGACACAGCCAAGCCATA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0249 a0001c0002t0027g0249	1	398	0.0025	-17	c.77- others(32): Show c.77-6559_77-6543delGACACAGCCAAGCCATA	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1			chr6	TogoVar
SMIM14_chr4_39541336_39643865	39576684	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18612.hp2 HG02015.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0108 a0001c0001t0010g0110 a0001c0001t0010g0108 a0001c0001t0010g0110	2	175	0.0114	-17	c.76- others(32): Show c.76-4238_76-4222delAAAAAAAAAAAAAAAAA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM31_chr4_164749131_164808795	164758801	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03471.hp2 HG01496.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0285 a0001c0001t0012g0243 a0001c0001t0004g0285 a0001c0001t0012g0243	2	11	0.1818	-17	c.-26 others(34): Show c.-26+4414_-26+4430delTTTTTTTTTTTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM35_chr11_117998634_118091963	118048536	AAGAAGGA others(10): Show AAGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp2 NA18747.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0164 a0001c0001t0001g0024 a0001c0001t0001g0164	2	406	0.0049	-17	c.8-3 others(32): Show c.8-32744_8-32728delCTTCCTTCCTTCCTTCT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55456116	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0181 a0001c0001t0004g0181	1	157	0.0064	-17	c.53 others(36): Show c.532-5835_*532-5819delTTTTTTTTTTTTTTTTT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	4/4			chr17	TogoVar
SMKR1_chr7_129497531_129517918	129499488	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(161): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01109.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0002g0115	164	198	0.8283	-17	c.-33 others(28): Show c.-3336_-3320delTTTTTTTTTTTTTTTTT	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		3042		chr7	TogoVar
SMN2_chr5_70044669_70082595	70046392	CCTTTTTT others(10): Show CCTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01192.hp1 HG02738.hp1 others(3): Show HG01175.hp2 HG01192.hp1 HG02738.hp1 HG03239.hp2 HG04199.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0082 a0001c0003t0001g0080 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0082 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0087	6	22	0.2727	-17	c.-32 others(28): Show c.-3293_-3277delCTTTTTTTTTTTTTTTT	SMN2	ENSG00000205571.15	transcript	ENST00000380743.9	protein_coding		3276		chr5	TogoVar
SMOC1_chr14_69874416_70037366	69924889	TAGGAGAG others(10): Show TAGGAGAGGTAGGGGAGG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG02280.hp2 others(8): Show HG01175.hp2 HG01243.hp1 HG02280.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0020 a0001c0001t0027 a0005c0013t0023	a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0065 others(8): Show a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0098 a0001c0001t0005g0189 a0001c0001t0007g0095 a0001c0001t0007g0102 a0001c0001t0011g0075 a0001c0001t0020g0096 a0001c0001t0027g0036 a0005c0013t0023g0027	11	268	0.0410	-17	c.100 others(36): Show c.100-27233_100-27217delGGAGGAGAGGTAGGGGA	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168517815	CAGGGGCC others(10): Show CAGGGGCCTGGGCGGTGG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0050 a0001c0007t0005g0050	1	178	0.0056	-17	c.256 others(34): Show c.256+7751_256+7767delGCCTGGGCGGTGGAGGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPD4_chr2_130146408_130186602	130175472	GGCAGAAG others(10): Show GGCAGAAGCTCTCTTAAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp1 HG01243.hp1 others(14): Show HG00738.hp1 HG01123.hp1 HG01243.hp1 HG02055.hp2 HG02451.hp1 HG02559.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG03579.hp2 NA19043.hp1 NA20300.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0006 a0001c0019 a0002c0003 others(1): Show a0001c0006 a0001c0019 a0002c0003 a0010c0014	a0001c0006t0002 a0001c0006t0006 a0001c0019t0015 others(2): Show a0001c0006t0002 a0001c0006t0006 a0001c0019t0015 a0002c0003t0002 a0010c0014t0002	a0001c0006t0002g0221 a0001c0006t0006g0038 a0001c0006t0006g0229 others(12): Show a0001c0006t0002g0221 a0001c0006t0006g0038 a0001c0006t0006g0229 a0001c0019t0015g0230 a0002c0003t0002g0037 a0002c0003t0002g0220 a0002c0003t0002g0222 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0227 a0002c0003t0002g0228 a0002c0003t0002g0231 a0010c0014t0002g0232	17	330	0.0515	-17	c.40- others(30): Show c.40-489_40-473delTTTAAGAGAGCTTCTGC	SMPD4	ENSG00000136699.20	transcript	ENST00000680298.1	protein_coding	2/19			chr2	TogoVar
SMPX_chrX_21700978_21763116	21728213	TTTCTCTC others(10): Show TTTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	286	0.0035	-17	c.14 others(34): Show c.14+9319_*14+9335delGAGAGAGAGAGAGAGAA	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SMR3A_chr4_70355760_70372158	70363156	AAAATACA others(10): Show AAAATACAAGAGAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	456	0.0022	-17	c.54+ others(31): Show c.54+989_54+1005delAATACAAGAGAAAAACA	SMR3A	ENSG00000109208.5	transcript	ENST00000226460.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMS_chrX_21935709_21999837	21944905	GGAGGTGG others(10): Show GGAGGTGGAGGTTACGCT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp1 HG02451.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0112 a0001c0001t0006g0084 a0001c0001t0004g0112 a0001c0001t0006g0084	2	296	0.0068	-17	c.49+ others(32): Show c.49+4036_49+4052delGTGGAGGTTACGCTGAG	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21988662	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(51): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00673.hp1 HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18947.hp1 NA18955.hp1 NA18973.hp2 NA18978.hp1 NA18988.hp1 NA18997.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0003	a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0007 others(51): Show a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0029 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0154 a0001c0001t0003g0215 a0001c0001t0003g0273 a0001c0001t0003g0294 a0001c0001t0004g0015 a0001c0001t0004g0034 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0144 a0001c0001t0004g0147 a0001c0001t0004g0166 a0001c0001t0004g0177 a0001c0001t0005g0009 a0001c0001t0005g0137 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0268 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0284 a0001c0001t0005g0286 a0001c0001t0006g0010 a0001c0001t0006g0039 a0001c0001t0006g0045 a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0006g0088 a0001c0001t0006g0122 a0001c0002t0003g0152 a0001c0002t0003g0172	54	57	0.9474	-17	c.945 others(34): Show c.945+3453_945+3469delAAAAAAAAAAAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMTNL2_chr17_4579529_4613319	4589938	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02622.hp1 HG02717.hp1 others(5): Show HG00738.hp2 HG02622.hp1 HG02717.hp1 HG03540.hp1 HG04228.hp1 HG06807.hp1 NA18995.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0002c0001t0002	a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0002g0017 others(3): Show a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0002g0017 a0001c0003t0002g0169 a0001c0003t0004g0237 a0002c0001t0002g0283	8	159	0.0503	-17	c.400 others(34): Show c.400-2393_400-2377delTTTTTTTTTTTTTTTTT	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMTNL2_chr17_4579529_4613319	4602311	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0302 a0002c0001t0001g0302	1	79	0.0127	-17	c.125 others(36): Show c.1259+5000_1259+5016delTTTTTTTTTTTTTTTTT	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMTN_chr22_31076318_31109624	31081005	GCTCTGAG others(10): Show GCTCTGAGACTCCTACGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp1 others(116): Show HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18952.hp1 NA18956.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0011 a0012 a0016 a0017	a0001c0001 a0001c0012 a0002c0002 others(7): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0011c0015 a0012c0018 a0016c0016 a0017c0019	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0012t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0006c0006t0001 a0011c0015t0001 a0012c0018t0001 a0016c0016t0001 a0017c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(63): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0007g0025 a0001c0001t0007g0137 a0001c0001t0011g0045 a0001c0012t0001g0042 a0002c0002t0001g0081 a0002c0002t0001g0119 a0003c0003t0001g0005 a0003c0003t0001g0008 a0003c0003t0001g0026 a0003c0003t0001g0043 a0003c0003t0001g0046 a0003c0003t0001g0052 a0003c0003t0001g0067 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0118 a0003c0003t0001g0120 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0173 a0003c0003t0002g0107 a0004c0004t0001g0015 a0004c0004t0001g0018 a0004c0004t0001g0063 a0004c0004t0001g0064 a0004c0004t0001g0065 a0004c0004t0001g0066 a0004c0004t0001g0113 a0004c0004t0001g0115 a0004c0004t0001g0116 a0004c0004t0001g0117 a0004c0004t0001g0140 a0006c0006t0001g0121 a0011c0015t0001g0005 a0012c0018t0001g0171 a0016c0016t0001g0172 a0017c0019t0001g0112	119	360	0.3306	-17	c.-53 others(26): Show c.-531_-515delCTCTGAGACTCCTACGA	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding		312		chr22	TogoVar
SMUG1_chr12_54175366_54193985	54185488	ATAAATAA others(10): Show ATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	389	0.0026	-17	c.-19 others(34): Show c.-19-1546_-19-1530delATTTATTTATTTATTTA	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	2/3			chr12	TogoVar
SMURF1_chr7_99022440_99149108	99065111	TTTTTGAG others(10): Show TTTTTGAGACAGAGTCTC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0060 a0001c0002t0008g0060	1	262	0.0038	-17	c.56- others(32): Show c.56-3291_56-3275delGAGACTCTGTCTCAAAA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99119003	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	4	0.2500	-17	c.55+ others(34): Show c.55+24706_55+24722delAAAAAAAAAAAAAAAAA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD3_chr1_245744347_246512279	246225321	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02273.hp1 NA19000.hp2 HG00738.hp2 HG02273.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0002g0046 a0001c0001t0002g0090 a0001c0001t0001g0092 a0001c0001t0002g0046 a0001c0001t0002g0090	3	16	0.1875	-17	c.531 others(38): Show c.531+101863_531+101879delTTTTTTTTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar

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