Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC47A1_chr17_19528854_19584034	19531973	CTCCCACC others(18): Show CTCCCACCTCGGCCTTCCAAAGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0273 a0003c0007t0001g0273	1	338	0.0030	-25	c.-19 others(36): Show c.-1966_-1942delTCCCACCTCGGCCTTCCAAAGTGTT	SLC47A1	ENSG00000142494.13	transcript	ENST00000270570.8	protein_coding		1880		chr17	TogoVar
SLC4A10_chr2_161619416_161990270	161945210	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	118	0.0085	-25	c.210 others(44): Show c.2103+2315_2104-2330delATATATATATATATATATATATATT	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A1_chr17_44243390_44273135	44247675	CTGGCAGA others(18): Show CTGGCAGAGTTAGCTCTCTGACCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01192.hp2 HG01934.hp2 others(21): Show HG00673.hp2 HG01192.hp2 HG01934.hp2 HG01978.hp1 HG01993.hp1 HG02132.hp2 HG03239.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp2 NA18973.hp1 NA18980.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19080.hp2 NA19083.hp2 NA19086.hp2 NA19089.hp2 NA19090.hp1	a0002 a0008 a0015 a0002 a0008 a0015	a0002c0002 a0008c0014 a0015c0018 a0002c0002 a0008c0014 a0015c0018	a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 others(3): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0008c0014t0006 a0015c0018t0011	a0002c0002t0004g0210 a0002c0002t0005g0209 a0002c0002t0005g0240 others(16): Show a0002c0002t0004g0210 a0002c0002t0005g0209 a0002c0002t0005g0240 a0002c0002t0006g0009 a0002c0002t0006g0017 a0002c0002t0006g0053 a0002c0002t0006g0085 a0002c0002t0006g0086 a0002c0002t0006g0208 a0002c0002t0006g0252 a0002c0002t0011g0036 a0002c0002t0011g0083 a0002c0002t0011g0084 a0002c0002t0011g0087 a0002c0002t0011g0207 a0002c0002t0011g0297 a0008c0014t0006g0074 a0008c0014t0006g0075 a0015c0018t0011g0119	24	406	0.0591	-25	c.27 others(36): Show c.2758_*2782delAAGGGTCAGAGAGCTAACTCTGCCA	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding		714		chr17	TogoVar
SLC6A11_chr3_10811228_10945714	10811799	TCCAAAAA others(18): Show TCCAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0048 a0001c0003t0001g0048	1	362	0.0028	-25	c.-44 others(36): Show c.-4466_-4442delCCAAAAAAAAAAAAAAAAAAAAAAA	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding		4428		chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873384	TGTATCCT others(18): Show TGTATCCTATCCTATGCTATCCTATC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0151 a0001c0003t0001g0151	1	362	0.0028	-25	c.757 others(42): Show c.757-1576_757-1552delGTATCCTATCCTATGCTATCCTATC	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13			chr3	TogoVar
SLC6A12_chr12_185081_219157	187607	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG01258.hp2 others(11): Show HG00741.hp2 HG01167.hp2 HG01258.hp2 HG01934.hp2 HG01978.hp2 HG02027.hp1 HG02165.hp2 HG02273.hp1 HG02723.hp2 HG03453.hp1 HG03704.hp1 HG04204.hp2 NA18612.hp2 NA18957.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0007c0015	a0001c0001t0002 a0001c0001t0022 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0022 a0002c0002t0002 a0002c0003t0002 a0007c0015t0002	a0001c0001t0002g0162 a0001c0001t0002g0222 a0001c0001t0002g0229 others(11): Show a0001c0001t0002g0162 a0001c0001t0002g0222 a0001c0001t0002g0229 a0001c0001t0002g0257 a0001c0001t0002g0310 a0001c0001t0022g0230 a0002c0002t0002g0089 a0002c0002t0002g0111 a0002c0002t0002g0124 a0002c0002t0002g0128 a0002c0002t0002g0131 a0002c0003t0002g0030 a0002c0003t0002g0333 a0007c0015t0002g0063	14	420	0.0333	-25	c.34 others(36): Show c.3436_*3460delGTTTTTTTTTTTTTTTTTTTTTTTT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding		2473		chr12	TogoVar
SLC6A16_chr19_49284638_49330191	49322817	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	338	0.0030	-25	c.-65 others(42): Show c.-65+2206_-65+2230delAAAAAAAAAAAAAAAAAAAAAAAAA	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding	1/11			chr19	TogoVar
SLC6A6_chr3_14397606_14494349	14436531	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	376	0.0027	-25	c.-11 others(42): Show c.-11-7067_-11-7043delTTTTTTTTTTTTTTTTTTTTTTTTT	SLC6A6	ENSG00000131389.18	transcript	ENST00000622186.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A7_chr5_150185062_150216063	150207132	TCTTTATT others(18): Show TCTTTATTTTTATTTTATTTTATTTA	T T	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	468	0.0021	-25	c.170 others(44): Show c.1701+1510_1701+1534delCTTTATTTTTATTTTATTTTATTTA	SLC6A7	ENSG00000011083.9	transcript	ENST00000230671.7	protein_coding	13/13			chr5	TogoVar
SLC6A8_chrX_153682926_153701588	153696517	GGCCTGCG others(18): Show GGCCTGCGGGGACATTCTACTGTGCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0020 a0006c0006t0020	a0006c0006t0020g0040 a0006c0006t0020g0040	1	290	0.0035	-25	c.13 others(36): Show c.1304_*1328delGCCTGCGGGGACATTCTACTGTGCT	SLC6A8	ENSG00000130821.17	transcript	ENST00000253122.10	protein_coding	13/13	1304		chrX	TogoVar
SLC7A11_chr4_138159097_138247349	138237715	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0172 a0001c0003t0172	a0001c0003t0172g0126 a0001c0003t0172g0126	1	364	0.0028	-25	c.278 others(42): Show c.278-1289_278-1265delAAATATATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237719	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA21309.hp1 HG02572.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0155 a0001c0001t0015 a0001c0001t0155	a0001c0001t0015g0073 a0001c0001t0155g0072 a0001c0001t0015g0073 a0001c0001t0155g0072	2	364	0.0055	-25	c.278 others(42): Show c.278-1293_278-1269delAAAAAAATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC8A3_chr14_70039215_70193951	70191996	GAATAATA others(18): Show GAATAATAATAATTATTATTATTAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02809.hp1 HG03225.hp2 HG02451.hp1 HG02809.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0018 a0001c0002t0013 a0001c0005t0068 a0001c0001t0018 a0001c0002t0013 a0001c0005t0068	a0001c0001t0018g0278 a0001c0002t0013g0270 a0001c0005t0068g0271 a0001c0001t0018g0278 a0001c0002t0013g0270 a0001c0005t0068g0271	3	296	0.0101	-25	c.-37 others(36): Show c.-3705_-3681delATTAATAATAATAATTATTATTATT	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3046		chr14	TogoVar
SLC9A3_chr5_465456_529449	481721	GAACCCAC others(18): Show GAACCCACCAGCCCCCCTCACCACGC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0154	1	218	0.0046	-25	c.144 others(41): Show c.1447-111_1447-87delGCGTGGTGAGGGGGGCTGGTGGGTT	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	8/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	504900	GGACGCCT others(18): Show GGACGCCTGTGCCTGGAAGAGCAGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00642.hp2 others(20): Show HG00323.hp1 HG00642.hp1 HG00642.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG02071.hp1 HG02145.hp2 HG02148.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG03540.hp1 NA18906.hp1 NA18990.hp2 NA19043.hp1 NA19081.hp2 NA20300.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0027 others(3): Show a0001c0001 a0001c0003 a0001c0027 a0002c0002 a0002c0004 a0010c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0003t0008 a0001c0027t0007 a0002c0002t0002 a0002c0004t0025 a0010c0017t0004	a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 others(20): Show a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0004g0027 a0001c0001t0005g0170 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0003t0008g0112 a0001c0027t0007g0136 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0034 a0002c0004t0025g0143 a0010c0017t0004g0123	23	218	0.1055	-25	c.212 others(44): Show c.212-12854_212-12830delTGCTGCTCTTCCAGGCACAGGCGTC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	91850371	CTACAGAG others(18): Show CTACAGAGCACCGATTGGTGCGTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03704.hp2 HG04115.hp2 others(1): Show HG03017.hp2 HG03704.hp2 HG04115.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0044 a0001c0001t0048 others(1): Show a0001c0001t0007 a0001c0001t0044 a0001c0001t0048 a0001c0002t0041	a0001c0001t0007g0005 a0001c0001t0044g0006 a0001c0001t0048g0004 others(1): Show a0001c0001t0007g0005 a0001c0001t0044g0006 a0001c0001t0048g0004 a0001c0002t0041g0003	4	190	0.0211	-25	c.-35 others(36): Show c.-3537_-3513delTACAGAGCACCGATTGGTGCGTTTT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding		3336		chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016229	ATAGATAG others(18): Show ATAGATAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02622.hp1 HG03139.hp2 others(1): Show HG01952.hp2 HG02622.hp1 HG03139.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0008 a0001c0001t0029 a0001c0002t0001 others(1): Show a0001c0001t0008 a0001c0001t0029 a0001c0002t0001 a0002c0003t0011	a0001c0001t0008g0016 a0001c0001t0029g0131 a0001c0002t0001g0117 others(1): Show a0001c0001t0008g0016 a0001c0001t0029g0131 a0001c0002t0001g0117 a0002c0003t0011g0017	4	190	0.0211	-25	c.647 others(44): Show c.647-78626_647-78602delTAGATAGATAGATAGATAGATAGAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO5A1_chr8_69662046_69839978	69762174	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0040 a0005c0022t0040	a0005c0022t0040g0102 a0005c0022t0040g0102	1	280	0.0036	-25	c.908 others(40): Show c.908-324_908-300delAGAAAGAAAGAAAGAAAGAAAGAAA	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLCO6A1_chr5_102366774_102504001	102374004	TAATTAAT others(18): Show TAATTAATTCTTTTTCAATTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02723.hp2 others(4): Show HG01891.hp2 HG02258.hp1 HG02723.hp2 HG02809.hp2 HG02970.hp2 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 others(4): Show a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0004g0287 a0001c0001t0004g0288	7	342	0.0205	-25	c.201 others(42): Show c.2018-535_2018-511delTAAAAAAATTGAAAAAGAATTAATT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	12/13			chr5	TogoVar
SLFN12L_chr17_35459254_35542678	35530404	AGGAAGGA others(18): Show AGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0126 a0001c0001t0098g0126	1	360	0.0028	-25	c.-60 others(44): Show c.-606+7144_-606+7168delCTTCCTTCCTTCCTTCCTTCCTTCC	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530418	GAAGGAAG others(18): Show GAAGGAAGGAAGGGAAGGGAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp1 HG03491.hp1 others(1): Show HG01257.hp1 HG01358.hp1 HG03491.hp1 NA19067.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0004 a0001c0001 a0002c0003 a0004c0004	a0001c0001t0008 a0001c0001t0103 a0002c0003t0001 others(1): Show a0001c0001t0008 a0001c0001t0103 a0002c0003t0001 a0004c0004t0003	a0001c0001t0008g0093 a0001c0001t0103g0052 a0002c0003t0001g0094 others(1): Show a0001c0001t0008g0093 a0001c0001t0103g0052 a0002c0003t0001g0094 a0004c0004t0003g0140	4	360	0.0111	-25	c.-60 others(44): Show c.-606+7130_-606+7154delTTCCCTTCCCTTCCCTTCCTTCCTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530419	AAGGAAGG others(18): Show AAGGAAGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0150 a0005c0006t0150	a0005c0006t0150g0090 a0005c0006t0150g0090	1	360	0.0028	-25	c.-60 others(44): Show c.-606+7129_-606+7153delCTTCCCTTCCCTTCCCTTCCTTCCT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530422	GAAGGAAG others(18): Show GAAGGAAGGGAAGGGAAGGGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0052 a0007c0009t0052	a0007c0009t0052g0039 a0007c0009t0052g0039	1	360	0.0028	-25	c.-60 others(44): Show c.-606+7126_-606+7150delTTTCTTCCCTTCCCTTCCCTTCCTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLIT2_chr4_20246905_20625561	20291472	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01361.hp1 NA18964.hp1 HG01074.hp1 HG01361.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0081 a0001c0001t0006g0082 a0001c0002t0001g0109 a0001c0001t0001g0081 a0001c0001t0006g0082 a0001c0002t0001g0109	3	230	0.0130	-25	c.395 others(44): Show c.395+22593_395+22617delATATATATATATATATATATTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291474	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01978.hp1 HG02155.hp1 HG01255.hp1 HG01978.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0015 a0001c0003t0006 a0001c0003t0032 a0001c0001t0015 a0001c0003t0006 a0001c0003t0032	a0001c0001t0015g0002 a0001c0003t0006g0100 a0001c0003t0032g0013 a0001c0001t0015g0002 a0001c0003t0006g0100 a0001c0003t0032g0013	3	230	0.0130	-25	c.395 others(44): Show c.395+22595_395+22619delATATATATATATATATATTTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291482	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	230	0.0044	-25	c.395 others(44): Show c.395+22603_395+22627delATATATATATTTTTTTTTTTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168907925	TTATATAT others(18): Show TTATATATATATTATACGTGTATATA	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	132	0.0076	-25	c.414 others(44): Show c.414-24614_414-24590delTATATACACGTATAATATATATATA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168942738	GTTTTGCC others(18): Show GTTTTGCCTTTCAGGGCCTCTGGAGT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01192.hp1 others(46): Show HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01433.hp1 HG01993.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 NA18522.hp2 NA18747.hp2 NA18957.hp1 NA18970.hp1 NA18970.hp2 NA18989.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19066.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0012 a0013 a0015	a0001c0001 a0001c0003 a0001c0004 others(31): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0020 a0001c0042 a0001c0047 a0001c0048 a0001c0050 a0001c0051 a0001c0052 a0002c0002 a0002c0008 a0002c0011 a0002c0012 a0002c0018 a0002c0019 a0002c0021 a0002c0043 a0003c0056 a0003c0057 a0004c0025 a0008c0027 a0012c0024 a0013c0063 a0015c0023	a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 others(39): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0017 a0001c0003t0032 a0001c0004t0006 a0001c0006t0002 a0001c0006t0009 a0001c0007t0001 a0001c0007t0015 a0001c0009t0003 a0001c0009t0013 a0001c0010t0033 a0001c0013t0001 a0001c0014t0009 a0001c0015t0006 a0001c0016t0038 a0001c0017t0001 a0001c0020t0037 a0001c0042t0034 a0001c0047t0011 a0001c0048t0004 a0001c0050t0021 a0001c0051t0012 a0001c0052t0005 a0002c0002t0024 a0002c0008t0002 a0002c0011t0005 a0002c0011t0007 a0002c0012t0031 a0002c0018t0018 a0002c0019t0001 a0002c0021t0002 a0002c0043t0028 a0003c0056t0001 a0003c0057t0020 a0004c0025t0006 a0008c0027t0010 a0012c0024t0029 a0013c0063t0002 a0015c0023t0005	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0041 others(46): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0092 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0122 a0001c0003t0004g0045 a0001c0003t0007g0098 a0001c0003t0017g0050 a0001c0003t0032g0026 a0001c0004t0006g0060 a0001c0006t0002g0043 a0001c0006t0009g0113 a0001c0007t0001g0040 a0001c0007t0015g0054 a0001c0009t0003g0117 a0001c0009t0013g0056 a0001c0010t0033g0103 a0001c0013t0001g0091 a0001c0013t0001g0094 a0001c0014t0009g0121 a0001c0015t0006g0070 a0001c0016t0038g0132 a0001c0017t0001g0062 a0001c0020t0037g0109 a0001c0042t0034g0130 a0001c0047t0011g0012 a0001c0048t0004g0064 a0001c0050t0021g0003 a0001c0051t0012g0005 a0001c0052t0005g0088 a0002c0002t0024g0086 a0002c0008t0002g0023 a0002c0011t0005g0065 a0002c0011t0005g0075 a0002c0011t0007g0116 a0002c0012t0031g0077 a0002c0018t0018g0126 a0002c0019t0001g0011 a0002c0021t0002g0059 a0002c0043t0028g0052 a0003c0056t0001g0078 a0003c0057t0020g0096 a0004c0025t0006g0013 a0008c0027t0010g0125 a0012c0024t0029g0076 a0013c0063t0002g0036 a0015c0023t0005g0085	49	132	0.3712	-25	c.414 others(44): Show c.414-59427_414-59403delACTCCAGAGGCCCTGAAAGGCAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLX4IP_chr20_10430305_10633030	10431527	AAAACCAA others(18): Show AAAACCAAACCAAACCAAACCAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	266	0.0038	-25	c.-39 others(36): Show c.-3955_-3931delAAACCAAACCAAACCAAACCAAACC	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding		3777		chr20	TogoVar
SMAD2_chr18_47803957_47935659	47930575	GAGGGGAG others(18): Show GAGGGGAGGGGAGGGGAGGAGAGGGA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0002 a0001c0001t0031g0002	1	310	0.0032	-25	c.-29 others(34): Show c.-293_-269delTCCCTCTCCTCCCCTCCCCTCCCCT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	1/11	33820		chr18	TogoVar
SMAD5_chr5_136127845_136187733	136144392	AGCAAAAA others(18): Show AGCAAAAAAGAGAAGGCAGAATTTGT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03225.hp1 HG03579.hp2 HG01496.hp2 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0013 a0001c0001t0014	a0001c0001t0013g0078 a0001c0001t0014g0136 a0001c0001t0014g0137 a0001c0001t0013g0078 a0001c0001t0014g0136 a0001c0001t0014g0137	3	294	0.0102	-25	c.-24 others(44): Show c.-244-3439_-244-3415delGCAAAAAAGAGAAGGCAGAATTTGT	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	1/7			chr5	TogoVar
SMAD6_chr15_66697236_66787849	66774833	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG01928.hp2 others(27): Show HG00609.hp2 HG00621.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02135.hp2 HG02165.hp2 HG04115.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18977.hp1 NA18981.hp2 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19012.hp2 NA19056.hp1 NA19077.hp2 NA19085.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0016 others(2): Show a0001c0001 a0001c0002 a0001c0016 a0001c0017 a0004c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0008 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0023 a0001c0002t0024 a0001c0016t0032 a0001c0017t0008 a0004c0009t0007	a0001c0001t0001g0116 a0001c0001t0001g0181 a0001c0001t0001g0205 others(25): Show a0001c0001t0001g0116 a0001c0001t0001g0181 a0001c0001t0001g0205 a0001c0001t0004g0072 a0001c0001t0004g0075 a0001c0002t0008g0005 a0001c0002t0008g0095 a0001c0002t0008g0104 a0001c0002t0008g0119 a0001c0002t0008g0131 a0001c0002t0008g0132 a0001c0002t0008g0146 a0001c0002t0008g0153 a0001c0002t0008g0154 a0001c0002t0008g0172 a0001c0002t0008g0321 a0001c0002t0011g0022 a0001c0002t0011g0054 a0001c0002t0011g0055 a0001c0002t0011g0080 a0001c0002t0013g0007 a0001c0002t0013g0217 a0001c0002t0013g0232 a0001c0002t0023g0100 a0001c0002t0024g0019 a0001c0016t0032g0274 a0001c0017t0008g0112 a0004c0009t0007g0291	30	336	0.0893	-25	c.953 others(42): Show c.953-6145_953-6121delATTTTATTTTATTTTATTTTATTTT	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAP1_chr6_70662883_70867003	70725093	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	306	0.0033	-25	c.119 others(42): Show c.119-7268_119-7244delTTTTTTTTTTTTTTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA1_chrX_129441506_129528490	129479653	ATATTTTA others(18): Show ATATTTTATTTTATTTTATTTTATTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01109.hp1 others(15): Show HG00597.hp2 HG00673.hp1 HG01109.hp1 HG02040.hp1 HG02071.hp1 HG03195.hp1 HG03831.hp2 NA18949.hp2 NA18956.hp1 NA18963.hp2 NA18977.hp1 NA18979.hp1 NA19003.hp1 NA19056.hp1 NA19081.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0107 others(15): Show a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0175 a0001c0001t0001g0231	18	279	0.0645	-25	c.244 others(44): Show c.2442+1023_2442+1047delAAATAAAATAAAATAAAATAAAATA	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	19/24			chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2155720	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0310 a0003c0006t0002g0310	1	316	0.0032	-25	c.398 others(44): Show c.3982-5952_3982-5928delTTTTTTTTTTTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCB1_chr22_23781966_23843009	23822957	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG04115.hp2 HG06807.hp2 HG02630.hp1 HG04115.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0033 a0001c0001t0019 a0001c0001t0033	a0001c0001t0019g0218 a0001c0001t0019g0219 a0001c0001t0033g0220 a0001c0001t0019g0218 a0001c0001t0019g0219 a0001c0001t0033g0220	3	363	0.0083	-25	c.796 others(42): Show c.796-2251_796-2227delTTTTTTTTTTTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCD1_chr12_50080342_50105707	50085673	TGGGGGAG others(18): Show TGGGGGAGGCAGTGCGCAGAAAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG03209.hp2 HG02486.hp2 HG02559.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0034 a0001c0001t0006g0034 a0001c0001t0001g0034 a0001c0001t0006g0034	3	366	0.0082	-25	c.177 others(40): Show c.177+140_177+164delGCGCAGAAAGAGAGGGGGAGGCAGT	SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMC5_chr9_70253978_70359873	70287820	AAGAATTT others(18): Show AAGAATTTCTGGGGTTTTTGTTTGTT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	366	0.0027	-25	c.105 others(44): Show c.1053+1550_1053+1574delAGAATTTCTGGGGTTTTTGTTTGTT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	8/24			chr9	TogoVar
SMG6_chr17_2054843_2308785	2080073	TCAAAACA others(18): Show TCAAAACAAAACAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02015.hp2 HG02040.hp2 others(10): Show HG00621.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02698.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 NA18975.hp1 NA19011.hp1 NA20752.hp2	a0006 a0006	a0006c0005 a0006c0025 a0006c0032 a0006c0005 a0006c0025 a0006c0032	a0006c0005t0004 a0006c0005t0006 a0006c0005t0007 others(4): Show a0006c0005t0004 a0006c0005t0006 a0006c0005t0007 a0006c0005t0011 a0006c0005t0013 a0006c0025t0011 a0006c0032t0007	a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 others(10): Show a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 a0006c0005t0007g0113 a0006c0005t0007g0114 a0006c0005t0007g0115 a0006c0005t0007g0117 a0006c0005t0011g0122 a0006c0005t0011g0124 a0006c0005t0013g0118 a0006c0005t0013g0120 a0006c0025t0011g0112 a0006c0032t0007g0123	13	278	0.0468	-25	c.368 others(44): Show c.3681+1712_3681+1736delTTTTGTTTTGTTTTGTTTTGTTTTG	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	15/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2264074	GCTCCCAG others(18): Show GCTCCCAGAGTAACATCACCTCACTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00609.hp1 others(54): Show HG00099.hp2 HG00140.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02273.hp1 HG02735.hp2 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 NA18943.hp1 NA18948.hp1 NA18966.hp1 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18995.hp1 NA19062.hp2 NA19063.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0008 a0013 others(1): Show a0003 a0008 a0013 a0014	a0003c0003 a0008c0009 a0013c0017 others(1): Show a0003c0003 a0008c0009 a0013c0017 a0014c0018	a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0015 a0003c0003t0017 a0003c0003t0019 a0008c0009t0001 a0013c0017t0001 a0014c0018t0001	a0003c0003t0001g0001 a0003c0003t0001g0136 a0003c0003t0001g0138 others(54): Show a0003c0003t0001g0001 a0003c0003t0001g0136 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0171 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0183 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0226 a0003c0003t0002g0143 a0003c0003t0002g0149 a0003c0003t0002g0153 a0003c0003t0002g0160 a0003c0003t0002g0163 a0003c0003t0002g0170 a0003c0003t0002g0173 a0003c0003t0002g0177 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0217 a0003c0003t0005g0154 a0003c0003t0005g0166 a0003c0003t0005g0169 a0003c0003t0005g0176 a0003c0003t0015g0178 a0003c0003t0017g0182 a0003c0003t0019g0172 a0008c0009t0001g0184 a0008c0009t0001g0185 a0008c0009t0001g0186 a0013c0017t0001g0225 a0014c0018t0001g0137	57	278	0.2050	-25	c.266 others(46): Show c.2661+18548_2661+18572delTAGTGAGGTGATGTTACTCTGGGA G	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	8/18			chr17	TogoVar
SMG8_chr17_59205035_59220230	59219059	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA18977.hp1 NA19086.hp1 HG03139.hp1 NA18977.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	3	394	0.0076	-25	c.40 others(36): Show c.4058_*4082delTTTTTTTTTTTTTTTTTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		3830		chr17	TogoVar
SMIM14_chr4_39541336_39643865	39576672	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02897.hp1 HG01243.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0315 a0001c0001t0003g0303 a0001c0001t0003g0315	2	344	0.0058	-25	c.76- others(40): Show c.76-4234_76-4210delAAAAAAAAAAAAATATATATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39576674	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02630.hp2 others(1): Show HG01884.hp1 HG02451.hp1 HG02630.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0158 a0001c0001t0003g0184 a0001c0001t0003g0207 others(1): Show a0001c0001t0003g0158 a0001c0001t0003g0184 a0001c0001t0003g0207 a0001c0001t0007g0228	4	344	0.0116	-25	c.76- others(40): Show c.76-4236_76-4212delAAAAAAAAAAAAAAATATATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39576676	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03453.hp1 HG06807.hp1 others(1): Show HG02723.hp2 HG03453.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0129 a0001c0001t0003g0166 a0001c0001t0003g0240 others(1): Show a0001c0001t0003g0129 a0001c0001t0003g0166 a0001c0001t0003g0240 a0001c0001t0019g0317	4	344	0.0116	-25	c.76- others(40): Show c.76-4238_76-4214delAAAAAAAAAAAAAAAAATATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39576678	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	344	0.0029	-25	c.76- others(40): Show c.76-4240_76-4216delAAAAAAAAAAAAAAAAAAATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39576684	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0089 a0001c0001t0016g0089	1	344	0.0029	-25	c.76- others(40): Show c.76-4246_76-4222delAAAAAAAAAAAAAAAAAAAAAAAAA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM21_chr18_75404476_75432703	75426631	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG01884.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0099 a0001c0001t0001g0100	2	432	0.0046	-25	c.129 others(40): Show c.129+779_129+803delTTTTTTTTTTTTTTTTTTTTTTTTT	SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	1/2			chr18	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(18): Show CCTCGGCTCGGCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG04204.hp2 NA18943.hp1 others(3): Show HG03017.hp2 HG04204.hp2 NA18943.hp1 NA19057.hp1 NA19065.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0082 a0001c0001t0003g0027 a0001c0001t0003g0042	6	380	0.0158	-25	c.17 others(36): Show c.1761_*1785delCCGAGCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM46_chr19_14107324_14117476	14109958	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02965.hp2 others(1): Show HG01884.hp2 HG02280.hp1 HG02965.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	4	368	0.0109	-25	c.23 others(36): Show c.2341_*2365delATATATATATATATATATTTTTTTT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2365		chr19	TogoVar
SMN1_chr5_70920087_70958015	70954878	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	36	0.0278	-25	c.24 others(36): Show c.2444_*2468delAAAAAAAAAAAAAAAAAAAAAAAAC	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding		1864		chr5	TogoVar

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