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
SLK_chr10_103962140_104034233	103974655	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp1 HG01106.hp1 others(11): Show HG00558.hp2 HG00735.hp1 HG01106.hp1 HG02818.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 NA18942.hp1 NA18969.hp2 NA18984.hp2 NA18995.hp1 NA19005.hp2 NA19009.hp1 NA19060.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0015 a0001c0001 a0003c0003 a0009c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0003c0003t0018 a0009c0015t0001	a0001c0001t0001g0236 a0001c0001t0001g0262 a0001c0001t0001g0263 others(11): Show a0001c0001t0001g0236 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0327 a0001c0001t0004g0295 a0001c0001t0004g0304 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0328 a0001c0001t0004g0343 a0001c0001t0015g0261 a0003c0003t0018g0152 a0009c0015t0001g0282	14	376	0.0372	20	c.150 others(37): Show c.150+6773_150+6774insTTTTTTTTTTTTTTTTTTTT	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLK_chr10_103962140_104034233	104007768	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0209 a0002c0002t0005g0209	1	376	0.0027	20	c.260 others(37): Show c.2605-397_2605-378dupTAAATAAATAAATAAATAAA	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLMAP_chr3_57751309_57935003	57869630	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02055.hp2 HG02486.hp2 others(6): Show HG00621.hp1 HG02055.hp2 HG02486.hp2 HG02523.hp2 NA18947.hp2 NA18968.hp1 NA19004.hp1 NA19077.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0002	a0001c0001t0001g0288 a0001c0001t0002g0023 a0001c0001t0002g0024 others(6): Show a0001c0001t0001g0288 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0306 a0001c0002t0002g0057 a0001c0004t0002g0013 a0001c0004t0002g0018	9	310	0.0290	20	c.123 others(39): Show c.1238-1995_1238-1976dupTATATATATATATATATATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906305	T T	TTTTCTTT others(13): Show TTTTCTTTTTCTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	310	0.0032	20	c.150 others(39): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTCTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02559.hp1 HG02683.hp1 others(1): Show HG01943.hp2 HG02559.hp1 HG02683.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0002g0332 others(1): Show a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0002g0332 a0001c0003t0002g0306	4	386	0.0104	20	c.299 others(39): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58922377	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	386	0.0026	20	c.251 others(37): Show c.251-5398_251-5379dupTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	2/20			chr15	TogoVar
SLX4IP_chr20_10430305_10633030	10540096	T T	TTCCTTTC others(13): Show TTCCTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG01074.hp2 others(14): Show HG00099.hp2 HG00609.hp2 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG03834.hp1 HG04204.hp2 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0005c0005 a0007c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0038 a0001c0001t0059 a0001c0009t0007 a0002c0002t0005 a0002c0002t0032 a0005c0005t0016 a0007c0008t0001	a0001c0001t0002g0088 a0001c0001t0003g0131 a0001c0001t0012g0058 others(14): Show a0001c0001t0002g0088 a0001c0001t0003g0131 a0001c0001t0012g0058 a0001c0001t0014g0002 a0001c0001t0014g0004 a0001c0001t0018g0019 a0001c0001t0038g0080 a0001c0001t0059g0221 a0001c0009t0007g0013 a0002c0002t0005g0112 a0002c0002t0005g0116 a0002c0002t0005g0137 a0002c0002t0005g0220 a0002c0002t0032g0244 a0005c0005t0016g0250 a0005c0005t0016g0254 a0007c0008t0001g0065	17	266	0.0639	20	c.28- others(37): Show c.28-16134_28-16133insCCTTTCCTTCCTTCCTTCCT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX9_chr21_44935029_44981973	44979415	A A	ATGCCGCG others(13): Show ATGCCGCGGAAGGGAGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	334	0.0030	20	c.26 others(31): Show c.2612_*2613insTGCCGCGGAAGGGAGGAGGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		2443		chr21	TogoVar
SMAD2_chr18_47803957_47935659	47830576	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 NA18906.hp1 HG02572.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0248 a0001c0002t0249 a0001c0002t0248 a0001c0002t0249	a0001c0002t0248g0303 a0001c0002t0249g0306 a0001c0002t0248g0303 a0001c0002t0249g0306	2	310	0.0065	20	c.11 others(33): Show c.11250_*11251insTTTTTTTTTTTTTTTTTTTT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	11250		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47879495	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG04115.hp2 NA18989.hp2 others(2): Show HG02071.hp2 HG04115.hp2 NA18989.hp2 NA19007.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0029 a0001c0001t0215 others(2): Show a0001c0001t0010 a0001c0001t0029 a0001c0001t0215 a0001c0001t0225 a0001c0001t0230	a0001c0001t0010g0162 a0001c0001t0029g0133 a0001c0001t0215g0144 others(2): Show a0001c0001t0010g0162 a0001c0001t0029g0133 a0001c0001t0215g0144 a0001c0001t0225g0152 a0001c0001t0230g0153	5	310	0.0161	20	c.237 others(37): Show c.237-8951_237-8932dupACACACACACACACACACAC	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0259 a0001c0001t0072g0259	1	310	0.0032	20	c.237 others(39): Show c.237-11497_237-11478dupAAAAAAAAAAAAAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67113076	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02155.hp2 HG02486.hp1 others(2): Show HG02148.hp2 HG02155.hp2 HG02486.hp1 NA18979.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0031 a0001c0001t0048	a0001c0001t0001g0205 a0001c0001t0005g0018 a0001c0001t0007g0186 others(2): Show a0001c0001t0001g0205 a0001c0001t0005g0018 a0001c0001t0007g0186 a0001c0001t0031g0074 a0001c0001t0048g0147	5	310	0.0161	20	c.206 others(39): Show c.206+46735_206+46736insATATATATATATATATATAT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67177422	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0050 a0001c0001t0008g0050	1	310	0.0032	20	c.659 others(37): Show c.659-3806_659-3805insTTTTTTTTTTTTTTTTTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67182996	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	310	0.0032	20	c.871 others(37): Show c.871+1544_871+1545insTATATATATATATATATATA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67182998	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	310	0.0032	20	c.871 others(37): Show c.871+1546_871+1547insTATATATATATATATATATA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD4_chr18_51025213_51090042	51042283	G G	GCCTCCCT others(13): Show GCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02257.hp1 others(2): Show HG01884.hp2 HG02109.hp2 HG02257.hp1 HG03130.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0071 a0001c0001t0012 a0001c0001t0071	a0001c0001t0012g0017 a0001c0001t0012g0018 a0001c0001t0012g0019 others(2): Show a0001c0001t0012g0017 a0001c0001t0012g0018 a0001c0001t0012g0019 a0001c0001t0012g0021 a0001c0001t0071g0020	5	302	0.0166	20	c.-12 others(39): Show c.-127-4634_-127-4633insCCCTCCCTCCCTCCCTCCCT	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD4_chr18_51025213_51090042	51073388	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp2 HG02109.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0071 a0001c0001t0012 a0001c0001t0071	a0001c0001t0012g0017 a0001c0001t0071g0020 a0001c0001t0012g0017 a0001c0001t0071g0020	2	302	0.0066	20	c.130 others(39): Show c.1309-3249_1309-3248insTATATATATATATACACACA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD4_chr18_51025213_51090042	51073388	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG01884.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0035 a0001c0001t0012 a0001c0001t0035	a0001c0001t0012g0018 a0001c0001t0035g0023 a0001c0001t0012g0018 a0001c0001t0035g0023	2	302	0.0066	20	c.130 others(39): Show c.1309-3249_1309-3248insTATATATATATATATACACA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD5_chr5_136127845_136187733	136183496	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03540.hp2 HG03195.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0042 a0001c0001t0004g0044	2	294	0.0068	20	c.60 others(31): Show c.6016_*6017insAAAAAAAAAAAAAAAAAAAA	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding		764		chr5	TogoVar
SMAD6_chr15_66697236_66787849	66724285	G G	GGAATGAA others(13): Show GGAATGAATGAATGAATGAAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18973.hp1 HG02027.hp1 NA18973.hp1	a0004 a0012 a0004 a0012	a0004c0009 a0012c0011 a0004c0009 a0012c0011	a0004c0009t0009 a0012c0011t0007 a0004c0009t0009 a0012c0011t0007	a0004c0009t0009g0272 a0012c0011t0007g0285 a0004c0009t0009g0272 a0012c0011t0007g0285	2	336	0.0060	20	c.952 others(37): Show c.952+7795_952+7814dupTGAATGAATGAATGAATGAA	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD6_chr15_66697236_66787849	66774833	A A	ATTTATTT others(13): Show ATTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19240.hp2 HG02723.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0195 a0001c0001t0001g0017 a0001c0001t0001g0195	2	336	0.0060	20	c.953 others(37): Show c.953-6140_953-6121dupATTTTATTTTATTTTATTTT	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD7_chr18_48914853_48955965	48929567	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	398	0.0025	20	c.743 others(37): Show c.743-7658_743-7657insTGTGTGTGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp1 NA18906.hp2 others(2): Show HG02970.hp2 HG03098.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0021 a0002c0006t0001 a0001c0001t0001 a0001c0001t0021 a0002c0006t0001	a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0201 others(2): Show a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0201 a0001c0001t0021g0205 a0002c0006t0001g0077	5	398	0.0126	20	c.743 others(37): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCACAC others(13): Show TCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp2 HG02055.hp1 others(6): Show HG00438.hp1 HG01243.hp2 HG02055.hp1 HG02071.hp1 HG02896.hp1 HG02897.hp2 HG03704.hp2 NA18995.hp2 NA19001.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0016 a0006c0015 a0001c0001 a0001c0016 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0016t0018 a0006c0015t0001	a0001c0001t0001g0174 a0001c0001t0001g0218 a0001c0001t0001g0320 others(6): Show a0001c0001t0001g0174 a0001c0001t0001g0218 a0001c0001t0001g0320 a0001c0001t0002g0232 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0007g0039 a0001c0016t0018g0052 a0006c0015t0001g0375	9	398	0.0226	20	c.743 others(37): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCAC others(13): Show TCTCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00673.hp2 others(18): Show HG00597.hp1 HG00597.hp2 HG00673.hp2 HG02451.hp1 HG02723.hp1 HG03041.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 NA19067.hp2 NA19074.hp1 NA19080.hp2 NA19085.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0026	a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0091 others(18): Show a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0135 a0001c0001t0001g0170 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0001g0306 a0001c0001t0001g0321 a0001c0001t0002g0085 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0183 a0001c0001t0002g0192 a0001c0001t0002g0283 a0001c0001t0004g0041 a0001c0001t0007g0027 a0001c0001t0007g0042 a0001c0001t0008g0089 a0001c0001t0012g0038 a0001c0001t0026g0324	21	398	0.0528	20	c.743 others(37): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCTC others(13): Show TCTCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02622.hp2 NA18945.hp1 others(7): Show HG02040.hp2 HG02622.hp2 NA18945.hp1 NA18946.hp2 NA18979.hp2 NA18984.hp1 NA18993.hp1 NA19003.hp1 NA19010.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0090 a0001c0001t0001g0367 a0001c0001t0002g0009 others(6): Show a0001c0001t0001g0090 a0001c0001t0001g0367 a0001c0001t0002g0009 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0372 a0001c0001t0007g0020	10	398	0.0251	20	c.743 others(37): Show c.743-7660_743-7659insTGTGTGTGTGTGTGAGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCTC others(13): Show TCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	398	0.0025	20	c.743 others(37): Show c.743-7660_743-7659insTGTGTGTGTGTGAGAGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48937264	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03471.hp1 NA18971.hp1 HG03017.hp1 HG03471.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0100 a0001c0001t0001g0325 a0001c0001t0008g0163 a0001c0001t0001g0100 a0001c0001t0001g0325 a0001c0001t0008g0163	3	398	0.0075	20	c.742 others(37): Show c.742+5197_742+5216dupCACACACACACACACACACA	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD9_chr13_36839831_36925238	36840834	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0014 a0001c0001t0048g0014	1	358	0.0028	20	c.78 others(31): Show c.7841_*7842insTTTTTTTTTTTTTTTTTTTT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding		3996		chr13	TogoVar
SMARCA2_chr9_2010347_2198620	2176182	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03486.hp2 HG03041.hp2 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0265 a0003c0007t0001g0067 a0001c0001t0001g0265 a0003c0007t0001g0067	2	316	0.0063	20	c.425 others(39): Show c.4254-5375_4254-5374insGTTTTTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11061204	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0212 a0001c0035t0001g0212	1	286	0.0035	20	c.491 others(37): Show c.4912-579_4912-578insAAAAAATATATATATATATA	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11064669	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG02738.hp2 HG01516.hp1 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0001 a0001c0011t0001 a0001c0003t0001 a0001c0011t0001	a0001c0003t0001g0209 a0001c0011t0001g0278 a0001c0003t0001g0209 a0001c0011t0001g0278	2	286	0.0070	20	c.28 others(31): Show c.2853_*2854insTTTTTTTTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding		2397		chr19	TogoVar
SMARCAD1_chr4_94202865_94296292	94275796	C C	CTTTTATT others(13): Show CTTTTATTTTATTTTATTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0072 a0001c0004t0004g0072	1	322	0.0031	20	c.180 others(37): Show c.1809-539_1809-538insATTTTATTTTATTTTTTTTT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCC1_chr3_47580269_47786893	47600998	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01884.hp1 HG02738.hp1 others(1): Show HG00733.hp2 HG01884.hp1 HG02738.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0013 a0001c0001t0002g0101 a0001c0002t0002g0093 others(1): Show a0001c0001t0001g0013 a0001c0001t0002g0101 a0001c0002t0002g0093 a0001c0002t0002g0120	4	219	0.0183	20	c.304 others(39): Show c.3043+9048_3043+9067dupTCTCTCTCTCTCTCTCTCTC	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	26/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47671173	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04204.hp2 HG02280.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0193 a0001c0001t0001g0018 a0001c0001t0001g0193	2	219	0.0091	20	c.184 others(37): Show c.1840-476_1840-457dupTTTTTTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47747484	A A	AATATAAA others(13): Show AATATAAATATAAATATAAAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	219	0.0046	20	c.316 others(37): Show c.316-1492_316-1491insATTTATATTTATATTTATAT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47749670	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02602.hp2 HG02922.hp1 others(2): Show HG01934.hp1 HG02602.hp2 HG02922.hp1 NA19082.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0178 a0001c0001t0002g0145 a0001c0001t0002g0155 others(2): Show a0001c0001t0001g0178 a0001c0001t0002g0145 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158	5	219	0.0228	20	c.316 others(37): Show c.316-3697_316-3678dupGTGTGTGTGTGTGTGTGTGT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMARCC2_chr12_56157359_56194483	56167889	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02615.hp2 HG02895.hp2 others(1): Show HG00423.hp1 HG02615.hp2 HG02895.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0044 a0001c0001t0002g0016 a0001c0001t0004g0168 a0001c0001t0001g0044 a0001c0001t0002g0016 a0001c0001t0004g0168	4	250	0.0160	20	c.285 others(37): Show c.2850+151_2850+170dupGTGTGTGTGTGTGTGTGTGT	SMARCC2	ENSG00000139613.12	transcript	ENST00000550164.6	protein_coding	26/28			chr12	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02040.hp1 others(2): Show HG01167.hp1 HG01169.hp2 HG02040.hp1 HG02895.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0091 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0017g0107	5	213	0.0235	20	c.242 others(37): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp1 HG02015.hp1 others(9): Show HG00597.hp1 HG01192.hp1 HG02015.hp1 HG02738.hp1 HG03453.hp1 HG03688.hp1 NA18985.hp1 NA18995.hp1 NA19004.hp1 NA19066.hp1 NA19070.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0021	a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 others(9): Show a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0140 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0205 a0001c0001t0018g0063 a0001c0001t0021g0206	12	213	0.0563	20	c.125 others(37): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53425515	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0094 a0001c0002t0008g0094	1	213	0.0047	20	c.-29 others(31): Show c.-2935_-2916dupTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding		2862		chrX	TogoVar
SMC1B_chr22_45339063_45418599	45353893	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0092 a0002c0001t0002g0092	1	360	0.0028	20	c.327 others(35): Show c.3273+65_3273+84dupTTTTTTTTTTTTTTTTTTTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	21/24			chr22	TogoVar
SMC3_chr10_110562695_110611048	110607292	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02027.hp2 HG02602.hp1 others(18): Show HG01978.hp2 HG02027.hp2 HG02602.hp1 HG02970.hp2 HG03688.hp2 HG03927.hp1 NA18949.hp1 NA18952.hp2 NA18961.hp1 NA18962.hp1 NA18967.hp2 NA18972.hp2 NA18984.hp1 NA18997.hp1 NA19006.hp2 NA19007.hp1 NA19078.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0011 others(16): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0160	21	328	0.0640	20	c.29 others(31): Show c.2990_*2991insAAAAAAAAAAAAAAAAAAAA	SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding		1245		chr10	TogoVar
SMC4_chr3_160394650_160439953	160425022	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 NA19011.hp1 HG01261.hp1 HG01884.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0003g0111 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0003g0111	3	332	0.0090	20	c.247 others(35): Show c.2478+15_2478+34dupGTGTGTGTGTGTGTGTGTGT	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC5_chr9_70253978_70359873	70309349	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0011 a0009c0016t0011	a0009c0016t0011g0108 a0009c0016t0011g0108	1	366	0.0027	20	c.157 others(39): Show c.1578+3989_1578+3990insTTTTTTTTTTTTTTTTTTTG	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	11/24			chr9	TogoVar
SMCHD1_chr18_2650726_2810017	2679480	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03225.hp1 HG02015.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0118 a0001c0004t0002g0340 a0001c0004t0002g0118 a0001c0004t0002g0340	2	340	0.0059	20	c.638 others(37): Show c.638+5354_638+5355insAAAAAAAAAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2684700	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01943.hp1 HG01975.hp1 others(6): Show HG01243.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG02293.hp2 HG02647.hp2 HG02738.hp2 HG02922.hp1 HG04184.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0002 a0003c0003t0004 a0003c0003t0005 others(1): Show a0001c0004t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0006	a0001c0004t0002g0113 a0001c0004t0002g0119 a0001c0004t0002g0120 others(6): Show a0001c0004t0002g0113 a0001c0004t0002g0119 a0001c0004t0002g0120 a0001c0004t0002g0137 a0001c0004t0002g0152 a0001c0004t0002g0154 a0003c0003t0004g0043 a0003c0003t0005g0133 a0003c0003t0006g0041	9	340	0.0265	20	c.639 others(37): Show c.639-3680_639-3661dupTGTGTGTGTGTGTGTGTGTG	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(13): Show TATATATATATATATAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0042 a0003c0003t0006g0042	1	340	0.0029	20	c.226 others(37): Show c.2260+988_2260+989insTATATATATATATAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(13): Show TATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0011 a0004c0008t0011	a0004c0008t0011g0222 a0004c0008t0011g0222	1	340	0.0029	20	c.226 others(37): Show c.2260+988_2260+989insTATATATATATATATAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp1 HG01981.hp2 others(17): Show HG01123.hp2 HG01358.hp1 HG01981.hp2 HG02056.hp1 HG02083.hp2 HG02155.hp2 HG02683.hp2 HG02922.hp2 NA18949.hp2 NA18961.hp1 NA18979.hp2 NA18993.hp2 NA18994.hp2 NA19000.hp2 NA19006.hp1 NA19007.hp1 NA19062.hp1 NA19077.hp1 NA19082.hp1 NA19088.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0016	a0001c0004 a0001c0005 a0001c0009 others(8): Show a0001c0004 a0001c0005 a0001c0009 a0001c0015 a0002c0001 a0002c0006 a0003c0003 a0005c0013 a0005c0014 a0006c0017 a0016c0032	a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 others(12): Show a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 a0001c0005t0001 a0001c0009t0015 a0001c0015t0014 a0002c0001t0001 a0002c0001t0002 a0002c0006t0002 a0003c0003t0004 a0003c0003t0005 a0005c0013t0004 a0005c0014t0004 a0006c0017t0015 a0016c0032t0001	a0001c0004t0002g0130 a0001c0004t0005g0078 a0001c0004t0005g0122 others(17): Show a0001c0004t0002g0130 a0001c0004t0005g0078 a0001c0004t0005g0122 a0001c0004t0012g0055 a0001c0004t0012g0105 a0001c0005t0001g0262 a0001c0009t0015g0211 a0001c0015t0014g0305 a0002c0001t0001g0271 a0002c0001t0002g0326 a0002c0006t0002g0050 a0002c0006t0002g0126 a0003c0003t0004g0112 a0003c0003t0004g0127 a0003c0003t0005g0141 a0005c0013t0004g0088 a0005c0013t0004g0139 a0005c0014t0004g0090 a0006c0017t0015g0311 a0016c0032t0001g0282	20	340	0.0588	20	c.226 others(37): Show c.2260+988_2260+989insTATATATATATATATATAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar

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