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
SMCHD1_chr18_2650726_2810017	2684763	AACTATAG others(5): Show AACTATAGCTGTT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18953.hp2 NA18612.hp1 NA18953.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0031 a0002c0001t0001 a0002c0001t0031	a0002c0001t0001g0320 a0002c0001t0031g0308 a0002c0001t0001g0320 a0002c0001t0031g0308	2	340	0.0059	-12	c.639 others(29): Show c.639-3627_639-3616delATAGCTGTTACT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2693622	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03130.hp1 HG03139.hp1 HG02922.hp2 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0014 a0001c0015t0030 a0001c0015t0014 a0001c0015t0030	a0001c0015t0014g0304 a0001c0015t0014g0305 a0001c0015t0030g0306 a0001c0015t0014g0304 a0001c0015t0014g0305 a0001c0015t0030g0306	3	340	0.0088	-12	c.874 others(27): Show c.874-885_874-874delGTTTGTTTGTTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708867	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0123 a0001c0002t0048g0123	1	340	0.0029	-12	c.226 others(29): Show c.2260+977_2260+988delTATATATATATA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2782744	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19002.hp2 NA18950.hp1 NA19002.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0294 a0002c0010t0001g0299 a0002c0010t0001g0294 a0002c0010t0001g0299	2	340	0.0059	-12	c.554 others(31): Show c.5548-1689_5548-1678delAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	44/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO1_chr3_196501879_196520346	196502054	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG06807.hp2 NA21309.hp1 HG03209.hp2 HG06807.hp2 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0007 a0001c0001t0001 a0008c0010t0007	a0001c0001t0001g0112 a0008c0010t0007g0076 a0008c0010t0007g0082 a0001c0001t0001g0112 a0008c0010t0007g0076 a0008c0010t0007g0082	3	398	0.0075	-12	c.58 others(23): Show c.5821_*5832delTTTTTTTTTTTT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		4824		chr3	TogoVar
SMCO1_chr3_196501879_196520346	196516020	TATATATA others(5): Show TATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-12	c.-82 others(21): Show c.-823_-812delTTATATATATAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		675		chr3	TogoVar
SMCO4_chr11_93473472_93548391	93505856	AATGATGA others(5): Show AATGATGATGATG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	412	0.0024	-12	c.-15 others(31): Show c.-153-6520_-153-6509delCATCATCATCAT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93514374	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02280.hp2 HG02886.hp1 others(5): Show HG01928.hp1 HG02280.hp2 HG02886.hp1 HG02976.hp1 NA18966.hp2 NA18969.hp1 NA18982.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0025	a0001c0001t0002g0075 a0001c0001t0003g0044 a0001c0001t0003g0216 others(5): Show a0001c0001t0002g0075 a0001c0001t0003g0044 a0001c0001t0003g0216 a0001c0001t0003g0253 a0001c0001t0003g0286 a0001c0001t0012g0370 a0001c0001t0012g0373 a0001c0001t0025g0374	8	412	0.0194	-12	c.-15 others(33): Show c.-153-15038_-153-15027delTATATATATATA	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93535787	AAGCAGCA others(5): Show AAGCAGCAGCAGC	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	412	0.0024	-12	c.-15 others(31): Show c.-154+7477_-154+7488delGCTGCTGCTGCT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18827844	GTATATAT others(5): Show GTATATATATACC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0218 a0001c0003t0027g0218	1	300	0.0033	-12	c.974 others(29): Show c.9741+175_9741+186delGGTATATATATA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18844474	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp2 NA18522.hp2 others(1): Show HG02809.hp2 HG03471.hp2 NA18522.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0008 a0001c0009t0029 a0001c0001t0001 a0001c0009t0008 a0001c0009t0029	a0001c0001t0001g0131 a0001c0009t0008g0223 a0001c0009t0008g0224 others(1): Show a0001c0001t0001g0131 a0001c0009t0008g0223 a0001c0009t0008g0224 a0001c0009t0029g0225	4	300	0.0133	-12	c.621 others(29): Show c.6219+943_6219+954delGTGTGTGTGTGT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18849069	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp1 NA18971.hp1 HG02451.hp1 HG03139.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0004 a0001c0002t0002 a0001c0004t0004	a0001c0002t0002g0265 a0001c0004t0004g0019 a0001c0004t0004g0020 a0001c0002t0002g0265 a0001c0004t0004g0019 a0001c0004t0004g0020	3	300	0.0100	-12	c.562 others(29): Show c.5623+136_5623+147delTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18854998	TCTGCACC others(5): Show TCTGCACCACCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp2 others(39): Show HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00642.hp1 HG00741.hp2 HG01081.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01975.hp1 HG01993.hp2 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02602.hp1 HG02630.hp2 HG02922.hp1 HG03098.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18955.hp1 NA18962.hp2 NA18969.hp2 NA18973.hp1 NA18990.hp1 NA18993.hp1 NA19009.hp2 NA19043.hp1 NA19077.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0001c0010 a0001c0016 others(4): Show a0001c0007 a0001c0010 a0001c0016 a0001c0025 a0002c0005 a0003c0006 a0003c0017	a0001c0007t0003 a0001c0007t0023 a0001c0007t0028 others(7): Show a0001c0007t0003 a0001c0007t0023 a0001c0007t0028 a0001c0010t0003 a0001c0010t0026 a0001c0016t0003 a0001c0025t0003 a0002c0005t0003 a0003c0006t0003 a0003c0017t0003	a0001c0007t0003g0176 a0001c0007t0003g0195 a0001c0007t0003g0196 others(39): Show a0001c0007t0003g0176 a0001c0007t0003g0195 a0001c0007t0003g0196 a0001c0007t0003g0210 a0001c0007t0003g0211 a0001c0007t0003g0214 a0001c0007t0003g0215 a0001c0007t0023g0026 a0001c0007t0028g0219 a0001c0010t0003g0181 a0001c0010t0003g0194 a0001c0010t0026g0207 a0001c0016t0003g0197 a0001c0016t0003g0204 a0001c0025t0003g0193 a0002c0005t0003g0177 a0002c0005t0003g0178 a0002c0005t0003g0179 a0002c0005t0003g0180 a0002c0005t0003g0183 a0002c0005t0003g0185 a0002c0005t0003g0186 a0002c0005t0003g0187 a0002c0005t0003g0191 a0002c0005t0003g0203 a0002c0005t0003g0206 a0002c0005t0003g0208 a0002c0005t0003g0209 a0002c0005t0003g0212 a0003c0006t0003g0182 a0003c0006t0003g0184 a0003c0006t0003g0188 a0003c0006t0003g0189 a0003c0006t0003g0190 a0003c0006t0003g0192 a0003c0006t0003g0198 a0003c0006t0003g0199 a0003c0006t0003g0200 a0003c0006t0003g0201 a0003c0006t0003g0202 a0003c0006t0003g0213 a0003c0017t0003g0205	42	300	0.1400	-12	c.423 others(28): Show c.4235-106_4235-95delGAGGTGGTGCAG	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	29/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18867526	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01099.hp1 others(19): Show HG00323.hp1 HG00735.hp2 HG01099.hp1 HG01358.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp1 HG03688.hp1 NA18969.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0010 others(2): Show a0001 a0003 a0010 a0012 a0013	a0001c0004 a0003c0006 a0010c0019 others(2): Show a0001c0004 a0003c0006 a0010c0019 a0012c0021 a0013c0020	a0001c0004t0004 a0001c0004t0007 a0001c0004t0016 others(4): Show a0001c0004t0004 a0001c0004t0007 a0001c0004t0016 a0003c0006t0003 a0010c0019t0004 a0012c0021t0007 a0013c0020t0004	a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0004g0013 others(19): Show a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0004g0017 a0001c0004t0004g0018 a0001c0004t0004g0019 a0001c0004t0004g0020 a0001c0004t0004g0021 a0001c0004t0004g0023 a0001c0004t0004g0025 a0001c0004t0007g0006 a0001c0004t0007g0007 a0001c0004t0007g0009 a0001c0004t0007g0010 a0001c0004t0016g0005 a0003c0006t0003g0213 a0010c0019t0004g0022 a0012c0021t0007g0008 a0013c0020t0004g0024	22	300	0.0733	-12	c.319 others(29): Show c.3195+652_3195+663delATTTATTTATTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	22/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18887762	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0007 a0001c0004t0007g0007	1	300	0.0033	-12	c.822 others(29): Show c.822+1598_822+1609delTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18888164	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	300	0.0033	-12	c.822 others(29): Show c.822+1196_822+1207delTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18919657	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02809.hp2 others(5): Show HG02451.hp2 HG02622.hp1 HG02809.hp2 HG02886.hp1 HG03195.hp1 HG03471.hp2 HG03540.hp1 NA18522.hp2	a0001 a0012 a0001 a0012	a0001c0004 a0001c0009 a0012c0021 a0001c0004 a0001c0009 a0012c0021	a0001c0004t0007 a0001c0009t0008 a0001c0009t0029 others(1): Show a0001c0004t0007 a0001c0009t0008 a0001c0009t0029 a0012c0021t0007	a0001c0004t0007g0006 a0001c0004t0007g0007 a0001c0004t0007g0010 others(5): Show a0001c0004t0007g0006 a0001c0004t0007g0007 a0001c0004t0007g0010 a0001c0009t0008g0222 a0001c0009t0008g0223 a0001c0009t0008g0224 a0001c0009t0029g0225 a0012c0021t0007g0008	8	300	0.0267	-12	c.92+ others(27): Show c.92+6281_92+6292delGTGTGTGTGTGT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	1/62			chr16	TogoVar
SMG5_chr1_156244224_156287825	156275127	CAATTAAA others(5): Show CAATTAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	368	0.0027	-12	c.455 others(27): Show c.455-453_455-442delTTTTTTTTAATT	SMG5	ENSG00000198952.8	transcript	ENST00000361813.5	protein_coding	4/21			chr1	TogoVar
SMG6_chr17_2054843_2308785	2057110	GGGCGGCG others(5): Show GGGCGGCGGCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	278	0.0036	-12	c.43 others(23): Show c.4370_*4381delGCCGCCGCCGCC	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding		2732		chr17	TogoVar
SMG6_chr17_2054843_2308785	2112524	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp2 HG01168.hp1 others(13): Show HG00621.hp1 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02615.hp2 HG02698.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 NA18975.hp1 NA19011.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0005 a0006c0025 others(2): Show a0001c0001 a0006c0005 a0006c0025 a0006c0032 a0009c0008	a0001c0001t0001 a0006c0005t0004 a0006c0005t0006 others(7): Show a0001c0001t0001 a0006c0005t0004 a0006c0005t0006 a0006c0005t0007 a0006c0005t0011 a0006c0005t0013 a0006c0025t0011 a0006c0032t0007 a0009c0008t0003 a0009c0008t0009	a0001c0001t0001g0213 a0006c0005t0004g0119 a0006c0005t0004g0121 others(13): Show a0001c0001t0001g0213 a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 a0006c0005t0007g0113 a0006c0005t0007g0114 a0006c0005t0007g0115 a0006c0005t0011g0122 a0006c0005t0011g0124 a0006c0005t0013g0118 a0006c0005t0013g0120 a0006c0025t0011g0112 a0006c0032t0007g0123 a0009c0008t0003g0222 a0009c0008t0003g0223 a0009c0008t0009g0224	16	278	0.0576	-12	c.335 others(33): Show c.3358-26635_3358-26624delATTTATTTATTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2121587	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01168.hp2 others(10): Show HG00140.hp2 HG01168.hp1 HG01168.hp2 HG01261.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02155.hp2 HG03490.hp1 NA18966.hp2 NA18979.hp2 NA19063.hp2 NA19081.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0024 a0003c0003 others(1): Show a0001c0001 a0001c0024 a0003c0003 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0024t0001 a0003c0003t0001 a0003c0003t0002 a0008c0009t0001	a0001c0001t0001g0213 a0001c0001t0001g0235 a0001c0001t0001g0264 others(10): Show a0001c0001t0001g0213 a0001c0001t0001g0235 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0002g0231 a0001c0001t0020g0192 a0001c0024t0001g0275 a0003c0003t0001g0183 a0003c0003t0001g0219 a0003c0003t0002g0149 a0003c0003t0002g0181 a0008c0009t0001g0184	13	278	0.0468	-12	c.335 others(33): Show c.3358-35698_3358-35687delCACACACACACA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2183745	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA21309.hp1 HG01891.hp2 NA21309.hp1	a0005 a0010 a0005 a0010	a0005c0006 a0010c0011 a0005c0006 a0010c0011	a0005c0006t0004 a0010c0011t0010 a0005c0006t0004 a0010c0011t0010	a0005c0006t0004g0105 a0010c0011t0010g0276 a0005c0006t0004g0105 a0010c0011t0010g0276	2	278	0.0072	-12	c.315 others(31): Show c.3155+2906_3155+2917delGTGTGTGTGTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	12/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2189848	CAGGGTAG others(5): Show CAGGGTAGTAATT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02895.hp2 others(6): Show HG02258.hp1 HG02280.hp2 HG02895.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 NA19240.hp1	a0007 a0020 a0007 a0020	a0007c0007 a0020c0031 a0007c0007 a0020c0031	a0007c0007t0001 a0007c0007t0002 a0007c0007t0014 others(1): Show a0007c0007t0001 a0007c0007t0002 a0007c0007t0014 a0020c0031t0001	a0007c0007t0001g0013 a0007c0007t0001g0019 a0007c0007t0001g0023 others(6): Show a0007c0007t0001g0013 a0007c0007t0001g0019 a0007c0007t0001g0023 a0007c0007t0001g0024 a0007c0007t0001g0025 a0007c0007t0001g0026 a0007c0007t0002g0028 a0007c0007t0014g0020 a0020c0031t0001g0097	9	278	0.0324	-12	c.287 others(31): Show c.2870-1345_2870-1334delAATTACTACCCT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2230210	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20805.hp2 HG00642.hp2 NA20805.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0033 a0002c0002 a0013c0033	a0002c0002t0001 a0013c0033t0002 a0002c0002t0001 a0013c0033t0002	a0002c0002t0001g0030 a0013c0033t0002g0098 a0002c0002t0001g0030 a0013c0033t0002g0098	2	278	0.0072	-12	c.286 others(31): Show c.2869+6270_2869+6281delCTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2230325	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	278	0.0036	-12	c.286 others(31): Show c.2869+6155_2869+6166delCTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2236701	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00639.hp2 others(18): Show HG00099.hp2 HG00140.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01168.hp2 HG01261.hp1 HG01261.hp2 HG01517.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02155.hp2 HG02735.hp2 HG03490.hp1 HG03669.hp1 HG03704.hp1 NA19011.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0008 a0015	a0001c0001 a0003c0003 a0004c0004 others(3): Show a0001c0001 a0003c0003 a0004c0004 a0006c0005 a0008c0009 a0015c0027	a0001c0001t0020 a0003c0003t0001 a0003c0003t0002 others(6): Show a0001c0001t0020 a0003c0003t0001 a0003c0003t0002 a0003c0003t0015 a0003c0003t0017 a0004c0004t0021 a0006c0005t0004 a0008c0009t0001 a0015c0027t0005	a0001c0001t0020g0192 a0003c0003t0001g0164 a0003c0003t0001g0171 others(18): Show a0001c0001t0020g0192 a0003c0003t0001g0164 a0003c0003t0001g0171 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0183 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0002g0170 a0003c0003t0002g0173 a0003c0003t0002g0179 a0003c0003t0002g0181 a0003c0003t0002g0217 a0003c0003t0015g0178 a0003c0003t0017g0182 a0004c0004t0021g0216 a0006c0005t0004g0119 a0008c0009t0001g0184 a0008c0009t0001g0185 a0008c0009t0001g0186 a0015c0027t0005g0221	21	278	0.0755	-12	c.272 others(27): Show c.2724-76_2724-65delTGTGTGTGTGTG	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	9/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2253147	ATTTATTT others(5): Show ATTTATTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp2 NA21309.hp1 HG02647.hp1 HG02965.hp2 NA21309.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0010 a0010c0011t0010	a0010c0011t0010g0276 a0010c0011t0010g0277 a0010c0011t0010g0278 a0010c0011t0010g0276 a0010c0011t0010g0277 a0010c0011t0010g0278	3	278	0.0108	-12	c.266 others(31): Show c.2662-8440_2662-8429delAAAATAAATAAA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	8/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2277132	CATTTATT others(5): Show CATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	278	0.0036	-12	c.266 others(31): Show c.2661+5503_2661+5514delAAATAAATAAAT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	8/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2277160	TATTTATT others(5): Show TATTTATTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03688.hp2 HG04204.hp2 HG03669.hp2 HG03688.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0049 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0001g0049 a0002c0002t0002g0047 a0002c0002t0002g0048	3	278	0.0108	-12	c.266 others(31): Show c.2661+5475_2661+5486delTAAAAAATAAAT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	8/18			chr17	TogoVar
SMG7_chr1_183467499_183559191	183474296	CTCACGCC others(5): Show CTCACGCCTGTAA	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0185 a0001c0001t0017g0185	1	360	0.0028	-12	c.29+ others(27): Show c.29+1650_29+1661delACGCCTGTAATC	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183494756	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 NA20129.hp2 HG02647.hp1 HG03225.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126	3	360	0.0083	-12	c.30- others(29): Show c.30-18064_30-18053delTTTTTTTTTTTT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183504324	GATTTATT others(5): Show GATTTATTTATTT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	360	0.0028	-12	c.30- others(27): Show c.30-8492_30-8481delATTTATTTATTT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG8_chr17_59205035_59220230	59215369	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00673.hp1 others(51): Show HG00280.hp1 HG00438.hp1 HG00673.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01192.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG02055.hp1 HG02056.hp1 HG02129.hp1 HG02257.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03491.hp2 HG03516.hp1 HG03831.hp1 HG03942.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18955.hp1 NA18968.hp2 NA18970.hp2 NA18984.hp1 NA19002.hp2 NA19009.hp2 NA19055.hp1 NA19056.hp2 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19084.hp2 NA19089.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0007t0001g0002	54	394	0.1371	-12	c.36 others(21): Show c.368_*379delTTTTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		140		chr17	TogoVar
SMG9_chr19_43722983_43759962	43724824	TATATATA others(5): Show TATATATACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02897.hp1 HG02257.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0038 a0001c0001t0003 a0001c0001t0038	a0001c0001t0003g0061 a0001c0001t0038g0056 a0001c0001t0003g0061 a0001c0001t0038g0056	2	320	0.0063	-12	c.67 others(23): Show c.6760_*6771delGTGTGTATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3158		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724828	TATACACA others(5): Show TATACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0092 a0002c0003t0021g0092	1	320	0.0031	-12	c.67 others(23): Show c.6756_*6767delGTGTGTGTGTAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3154		chr19	TogoVar
SMG9_chr19_43722983_43759962	43746623	ATCTGAGC others(5): Show ATCTGAGCAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01243.hp1 others(14): Show HG00323.hp1 HG00738.hp1 HG01243.hp1 HG01515.hp1 HG02109.hp2 HG02559.hp1 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0001c0001t0027 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057	a0001c0001t0001g0185 a0001c0001t0008g0018 a0001c0001t0008g0183 others(8): Show a0001c0001t0001g0185 a0001c0001t0008g0018 a0001c0001t0008g0183 a0001c0001t0008g0184 a0001c0001t0010g0010 a0001c0001t0025g0032 a0001c0001t0027g0187 a0001c0001t0027g0188 a0001c0001t0053g0186 a0001c0001t0055g0189 a0001c0001t0057g0196	17	320	0.0531	-12	c.588 others(27): Show c.588+807_588+818delCCCCTGCTCAGA	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	5/13			chr19	TogoVar
SMIM10L1_chr12_11166194_11181016	11168213	GAAGAAAG others(5): Show GAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02615.hp1 HG02886.hp2 others(1): Show HG02055.hp2 HG02615.hp1 HG02886.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0038 a0001c0002t0002 a0001c0002t0038	a0001c0002t0002g0000 a0001c0002t0038g0000 a0001c0002t0002g0000 a0001c0002t0038g0000	4	397	0.0101	-12	c.-31 others(23): Show c.-3143_-3132delAAGAAAGAAAGA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2980		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168368	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01074.hp2 others(9): Show HG00099.hp1 HG01070.hp1 HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01884.hp1 HG02145.hp2 HG02615.hp2 HG02717.hp1 NA18952.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0035 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0035 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007	a0001c0001t0001g0000 a0001c0001t0035g0000 a0001c0002t0002g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0035g0000 a0001c0002t0002g0000 a0001c0002t0006g0000 a0001c0002t0007g0000	12	397	0.0302	-12	c.-29 others(23): Show c.-2988_-2977delAAAGAAAGAAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2825		chr12	TogoVar
SMIM10_chrX_134985991_134997473	134986635	TTTATTTT others(5): Show TTTATTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	322	0.0031	-12	c.-44 others(23): Show c.-4460_-4449delTTATTTTCTTTC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4355		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986698	TCTTTCTT others(5): Show TCTTTCTTTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 NA18951.hp2 HG01516.hp1 HG01517.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000	3	322	0.0093	-12	c.-43 others(23): Show c.-4397_-4386delCTTTCTTTTTTC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4292		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986702	TCTTTTTT others(5): Show TCTTTTTTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp1 others(9): Show HG00639.hp1 HG00639.hp2 HG00642.hp1 HG01993.hp1 HG02040.hp1 HG02723.hp2 HG02809.hp1 HG03491.hp2 NA18612.hp1 NA18960.hp1 NA18966.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0006g0000	12	322	0.0373	-12	c.-43 others(23): Show c.-4393_-4382delCTTTTTTCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4288		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986706	TTTTCTTC others(5): Show TTTTCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG00323.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	2	322	0.0062	-12	c.-43 others(23): Show c.-4389_-4378delTTTCTTCCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4284		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986709	TCTTCCTT others(5): Show TCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG01261.hp1 others(9): Show HG00741.hp1 HG01168.hp1 HG01261.hp1 HG02559.hp1 HG02886.hp1 HG02970.hp1 HG03209.hp1 HG03471.hp1 HG04199.hp1 NA18942.hp1 NA18980.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0006g0000	12	322	0.0373	-12	c.-43 others(23): Show c.-4386_-4375delCTTCCTTCCTTC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4281		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986757	CCTTCCTT others(5): Show CCTTCCTTCCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	322	0.0031	-12	c.-43 others(23): Show c.-4338_-4327delCTTCCTTCCTTT	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4233		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986765	CCTTTCTT others(5): Show CCTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0000 a0001c0002t0004g0000	1	322	0.0031	-12	c.-43 others(23): Show c.-4330_-4319delCTTTCTTTCTTT	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4225		chrX	TogoVar
SMIM12_chr1_34845362_34864749	34853997	CAACAACA others(5): Show CAACAACAACAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(72): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01981.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 others(33): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0027 a0001c0001t0028 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0079 a0001c0001t0080 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0136 a0001c0001t0138 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0153 a0001c0001t0154	a0001c0001t0004g0004 a0001c0001t0004g0093 a0001c0001t0009g0020 others(41): Show a0001c0001t0004g0004 a0001c0001t0004g0093 a0001c0001t0009g0020 a0001c0001t0009g0030 a0001c0001t0010g0011 a0001c0001t0015g0048 a0001c0001t0015g0098 a0001c0001t0015g0170 a0001c0001t0018g0021 a0001c0001t0027g0042 a0001c0001t0027g0051 a0001c0001t0028g0044 a0001c0001t0028g0132 a0001c0001t0044g0041 a0001c0001t0045g0099 a0001c0001t0045g0176 a0001c0001t0046g0061 a0001c0001t0046g0062 a0001c0001t0047g0043 a0001c0001t0048g0022 a0001c0001t0049g0023 a0001c0001t0052g0067 a0001c0001t0079g0173 a0001c0001t0080g0160 a0001c0001t0127g0050 a0001c0001t0128g0136 a0001c0001t0129g0146 a0001c0001t0130g0147 a0001c0001t0131g0151 a0001c0001t0132g0166 a0001c0001t0133g0113 a0001c0001t0134g0114 a0001c0001t0136g0175 a0001c0001t0138g0055 a0001c0001t0144g0059 a0001c0001t0145g0060 a0001c0001t0146g0116 a0001c0001t0147g0190 a0001c0001t0148g0052 a0001c0001t0149g0053 a0001c0001t0150g0148 a0001c0001t0151g0054 a0001c0001t0153g0184 a0001c0001t0154g0092	75	382	0.1963	-12	c.16 others(23): Show c.1690_*1701delTTTGTTGTTGTT	SMIM12	ENSG00000163866.9	transcript	ENST00000521580.3	protein_coding	2/2	1690		chr1	TogoVar
SMIM13_chr6_11088834_11143733	11089299	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02615.hp2 others(7): Show HG02145.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0024	a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0003g0217 others(7): Show a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0003g0217 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0005g0263 a0001c0001t0007g0303 a0001c0001t0011g0130 a0001c0001t0011g0131 a0001c0001t0024g0189	10	400	0.0250	-12	c.-50 others(23): Show c.-5014_-5003delTTTTTTTTTTTT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding		4534		chr6	TogoVar
SMIM13_chr6_11088834_11143733	11100046	TTTTTTGT others(5): Show TTTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	400	0.0025	-12	c.76+ others(27): Show c.76+5675_76+5686delGTTTTTGTTTTT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM13_chr6_11088834_11143733	11116008	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03834.hp1 NA20300.hp2 others(1): Show HG03688.hp1 HG03834.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0017 a0001c0001t0001g0091 a0001c0001t0004g0062 a0001c0001t0001g0017 a0001c0001t0001g0091 a0001c0001t0004g0062	4	400	0.0100	-12	c.77- others(29): Show c.77-18377_77-18366delTTTTTTTTTTTT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM14_chr4_39541336_39643865	39576676	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	344	0.0029	-12	c.76- others(27): Show c.76-4225_76-4214delAAAATATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar

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