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
SLC9A8_chr20_49807828_49897242	49884289	G G	GACACACA others(18): Show GACACACACGACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0071 a0001c0002t0037g0071	1	360	0.0028	25	c.149 others(42): Show c.1491+231_1491+232insGACACACACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A9_chr3_143260222_143853468	143624445	G G	GCAAGACT others(18): Show GCAAGACTGGTTCAACATATGCAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0021	1	108	0.0093	25	c.755 others(44): Show c.755+27785_755+27809dupATTTGCATATGTTGAACCAGTCTTG	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	6/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143720824	G G	GTTTAGGA others(18): Show GTTTAGGATGGCAAAGGAATAACAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp1 HG02976.hp1 others(1): Show HG02257.hp2 HG02723.hp1 HG02976.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0001c0008	a0001c0002t0009 a0001c0004t0015 a0001c0005t0006 others(1): Show a0001c0002t0009 a0001c0004t0015 a0001c0005t0006 a0001c0008t0012	a0001c0002t0009g0070 a0001c0004t0015g0100 a0001c0005t0006g0099 others(1): Show a0001c0002t0009g0070 a0001c0004t0015g0100 a0001c0005t0006g0099 a0001c0008t0012g0098	4	108	0.0370	25	c.534 others(44): Show c.534-27518_534-27517insATTGTTATTCCTTTGCCATCCTAAA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	4/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143720824	G G	GTTTAGGA others(18): Show GTTTAGGATTCCAAAGGAATAACAAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp1 HG03195.hp2 HG02886.hp2 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0023 a0001c0002t0001 a0001c0002t0008 a0001c0002t0023	a0001c0002t0001g0068 a0001c0002t0008g0039 a0001c0002t0023g0107 a0001c0002t0001g0068 a0001c0002t0008g0039 a0001c0002t0023g0107	3	108	0.0278	25	c.534 others(44): Show c.534-27518_534-27517insATTGTTATTCCTTTGGAATCCTAAA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	4/15			chr3	TogoVar
SLC9B2_chr4_103017253_103081761	103072545	A A	ATGTTAAT others(18): Show ATGTTAATAAAAGACAGTACTGTTAC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	356	0.0028	25	c.-43 others(42): Show c.-43+3638_-43+3639insGTAACAGTACTGTCTTTTATTAACA	SLC9B2	ENSG00000164038.16	transcript	ENST00000394785.9	protein_coding	1/11			chr4	TogoVar
SLCO2A1_chr3_133927701_134034925	134028460	T T	TTTTTTTA others(18): Show TTTTTTTACTCAAAATTCTTGCTACC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	342	0.0029	25	c.96+ others(40): Show c.96+1246_96+1247insGGTAGCAAGAATTTTGAGTAAAAAA	SLCO2A1	ENSG00000174640.15	transcript	ENST00000310926.11	protein_coding	1/13			chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	91957002	A A	ATATATAT others(18): Show ATATATATACTATATATTATATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02622.hp1 HG03130.hp2 others(3): Show HG01074.hp1 HG02622.hp1 HG03130.hp2 HG03225.hp2 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0029 a0001c0001t0050 a0001c0001t0057	a0001c0001t0002g0002 a0001c0001t0008g0132 a0001c0001t0009g0174 others(3): Show a0001c0001t0002g0002 a0001c0001t0008g0132 a0001c0001t0009g0174 a0001c0001t0029g0131 a0001c0001t0050g0165 a0001c0001t0057g0179	6	190	0.0316	25	c.646 others(44): Show c.646+40552_646+40553insCTATATATTATATATACTATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	91971394	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01071.hp2 HG01255.hp1 others(13): Show HG00558.hp2 HG01071.hp2 HG01255.hp1 HG01346.hp2 HG01978.hp2 HG02818.hp1 HG02818.hp2 HG03491.hp2 HG03516.hp1 NA18941.hp1 NA18946.hp2 NA18980.hp2 NA19007.hp1 NA19064.hp1 NA19065.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0025 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0004 a0002c0003t0003	a0001c0001t0002g0151 a0001c0001t0005g0152 a0001c0001t0008g0016 others(13): Show a0001c0001t0002g0151 a0001c0001t0005g0152 a0001c0001t0008g0016 a0001c0001t0010g0021 a0001c0001t0013g0032 a0001c0001t0013g0035 a0001c0001t0025g0125 a0001c0001t0059g0166 a0001c0002t0001g0089 a0001c0002t0001g0135 a0001c0002t0002g0079 a0001c0002t0002g0092 a0001c0002t0002g0108 a0001c0002t0005g0051 a0001c0004t0004g0121 a0002c0003t0003g0110	16	190	0.0842	25	c.646 others(44): Show c.646+54952_646+54953insAAAAAAAAAAAAAAAAAAAAAAAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(18): Show GCCCCCCCCTTCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp2 others(47): Show HG00099.hp2 HG00323.hp2 HG00558.hp2 HG00639.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG02040.hp2 HG02129.hp2 HG02165.hp1 HG02300.hp1 HG02523.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02886.hp1 HG02976.hp1 HG03239.hp1 HG03492.hp2 HG03710.hp2 HG04204.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp2 NA18972.hp2 NA18973.hp1 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA18993.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0007 a0001c0038 others(3): Show a0001c0001 a0001c0007 a0001c0038 a0002c0002 a0007c0015 a0008c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0007t0002 a0001c0038t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0007c0015t0002 a0008c0019t0002	a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0002g0002 others(42): Show a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0161 a0001c0001t0002g0182 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0003g0002 a0001c0001t0003g0050 a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0102 a0001c0001t0003g0151 a0001c0001t0003g0155 a0001c0001t0003g0174 a0001c0001t0003g0210 a0001c0001t0008g0002 a0001c0001t0008g0108 a0001c0001t0012g0336 a0001c0001t0021g0187 a0001c0001t0022g0002 a0001c0007t0002g0175 a0001c0038t0002g0160 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0242 a0002c0002t0002g0270 a0002c0002t0002g0307 a0002c0002t0003g0002 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0265 a0002c0002t0003g0322 a0002c0002t0007g0041 a0007c0015t0002g0207 a0008c0019t0002g0002	50	432	0.1157	25	c.127 others(42): Show c.1277-261_1277-260insCCCCCCCTTCCCCTTCCCCTTCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO5A1_chr8_69662046_69839978	69772563	A A	AGAAAGGA others(18): Show AGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03225.hp1 others(1): Show HG03041.hp1 HG03098.hp2 HG03225.hp1 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0013 a0002c0002 a0002c0003 a0002c0013	a0002c0002t0004 a0002c0002t0008 a0002c0003t0013 others(1): Show a0002c0002t0004 a0002c0002t0008 a0002c0003t0013 a0002c0013t0093	a0002c0002t0004g0104 a0002c0002t0008g0097 a0002c0003t0013g0095 others(1): Show a0002c0002t0004g0104 a0002c0002t0008g0097 a0002c0003t0013g0095 a0002c0013t0093g0268	4	280	0.0143	25	c.908 others(44): Show c.908-10713_908-10689dupCTTTCCTTTCCTTTCCTTTCCTTTC	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	428	0.0023	25	c.-11 others(36): Show c.-1107_-1106insCTTTCTTTTTTTTTTTTTTTTTTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLIT2_chr4_20246905_20625561	20518588	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0097 a0001c0001t0015g0097	1	230	0.0044	25	c.105 others(42): Show c.1059-794_1059-793insATATATATATATATATATATATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36			chr4	TogoVar
SLIT2_chr4_20246905_20625561	20605711	A A	ATATTTTA others(18): Show ATATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02970.hp2 HG03098.hp1 others(1): Show HG02818.hp2 HG02970.hp2 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0021 a0001c0001t0051 others(1): Show a0001c0001t0010 a0001c0001t0021 a0001c0001t0051 a0001c0003t0060	a0001c0001t0010g0188 a0001c0001t0021g0085 a0001c0001t0051g0158 others(1): Show a0001c0001t0010g0188 a0001c0001t0021g0085 a0001c0001t0051g0158 a0001c0003t0060g0031	4	230	0.0174	25	c.369 others(44): Show c.3693-4275_3693-4251dupATTTTATTTTATTTTATTTTATTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168798220	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp1 HG02965.hp2 others(1): Show HG00639.hp1 HG02451.hp1 HG02965.hp2 HG02976.hp2	a0001 a0001	a0001c0015 a0001c0017 a0001c0032 others(1): Show a0001c0015 a0001c0017 a0001c0032 a0001c0042	a0001c0015t0017 a0001c0017t0001 a0001c0032t0001 others(1): Show a0001c0015t0017 a0001c0017t0001 a0001c0032t0001 a0001c0042t0034	a0001c0015t0017g0089 a0001c0017t0001g0062 a0001c0032t0001g0048 others(1): Show a0001c0015t0017g0089 a0001c0017t0001g0062 a0001c0032t0001g0048 a0001c0042t0034g0130	4	132	0.0303	25	c.936 others(42): Show c.936-2643_936-2642insAAAAAAAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	9/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168967437	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG02055.hp1 others(8): Show HG01192.hp2 HG01496.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG03209.hp2 HG03834.hp1 HG03927.hp2 NA18974.hp2 NA19012.hp2 NA19030.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0008 a0011	a0001c0001 a0001c0009 a0001c0026 others(7): Show a0001c0001 a0001c0009 a0001c0026 a0001c0038 a0001c0059 a0003c0033 a0003c0057 a0006c0034 a0008c0027 a0011c0028	a0001c0001t0001 a0001c0009t0001 a0001c0026t0004 others(7): Show a0001c0001t0001 a0001c0009t0001 a0001c0026t0004 a0001c0038t0011 a0001c0059t0004 a0003c0033t0007 a0003c0057t0020 a0006c0034t0012 a0008c0027t0010 a0011c0028t0006	a0001c0001t0001g0019 a0001c0001t0001g0081 a0001c0009t0001g0058 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0081 a0001c0009t0001g0058 a0001c0026t0004g0067 a0001c0038t0011g0066 a0001c0059t0004g0027 a0003c0033t0007g0108 a0003c0057t0020g0096 a0006c0034t0012g0046 a0008c0027t0010g0125 a0011c0028t0006g0014	11	132	0.0833	25	c.414 others(44): Show c.414-84102_414-84101insAAAAAAAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK2_chrX_145812829_145834856	145817749	C C	CCCTCCCT others(18): Show CCCTCCCTCCTCCCTCCTCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0057 a0001c0004t0022g0057	1	326	0.0031	25	c.-10 others(36): Show c.-1070_-1069insCCTCCCTCCTCCCTCCTCCCTCCCT	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding		79		chrX	TogoVar
SLITRK3_chr3_165181720_165201384	165196927	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA19065.hp1 HG02165.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	414	0.0048	25	c.-13 others(36): Show c.-1370_-1369insAGAGAGAGAGAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		544		chr3	TogoVar
SLITRK4_chrX_143617790_143641101	143639947	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0201 a0001c0001t0040g0201	1	335	0.0030	25	c.-42 others(36): Show c.-4264_-4263insATTTTATTTTATTTTATTTTATTTT	SLITRK4	ENSG00000179542.16	transcript	ENST00000356928.2	protein_coding		3847		chrX	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp2 HG02040.hp1 others(7): Show HG00673.hp2 HG02027.hp2 HG02040.hp1 HG02300.hp1 HG02735.hp1 HG02965.hp2 NA18966.hp1 NA19060.hp1 NA19065.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0019 a0001c0001t0001 a0001c0002t0001 a0001c0002t0019	a0001c0001t0001g0136 a0001c0002t0001g0207 a0001c0002t0001g0245 others(7): Show a0001c0001t0001g0136 a0001c0002t0001g0207 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0252 a0001c0002t0001g0269 a0001c0002t0001g0274 a0001c0002t0001g0283 a0001c0002t0019g0220	10	310	0.0323	25	c.150 others(44): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258282	A A	ATAGATAG others(18): Show ATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp2 HG02818.hp1 others(1): Show HG02717.hp1 HG02717.hp2 HG02818.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0002g0011 a0001c0001t0001g0027 a0001c0001t0002g0011	4	398	0.0101	25	c.-37 others(36): Show c.-3740_-3739insATCTATCTATCTATCTATCTATCTA	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3719		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18906.hp2 HG00544.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0341 a0001c0001t0002g0272 a0001c0001t0002g0341	2	386	0.0052	25	c.299 others(44): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX4IP_chr20_10430305_10633030	10452680	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0055 a0004c0004t0055	a0004c0004t0055g0209 a0004c0004t0055g0209	1	266	0.0038	25	c.-29 others(42): Show c.-29-5495_-29-5494insATATATATATATATATATATATATA	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD3_chr15_67060602_67200169	67178861	C C	CCCTTCCC others(18): Show CCCTTCCCCATTAAGTACTTTTGATG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18971.hp1 NA18747.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0002t0024 a0001c0001t0042 a0001c0002t0024	a0001c0001t0042g0221 a0001c0002t0024g0241 a0001c0001t0042g0221 a0001c0002t0024g0241	2	310	0.0065	25	c.659 others(42): Show c.659-2374_659-2350dupCCCATTAAGTACTTTTGATGCCTTC	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67181933	C C	CCAACCAC others(18): Show CCAACCACCACGCCCAGCTAATTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	310	0.0032	25	c.871 others(40): Show c.871+481_871+505dupCAACCACCACGCCCAGCTAATTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD5_chr5_136127845_136187733	136176457	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0039 a0001c0001t0012g0039	1	294	0.0034	25	c.125 others(42): Show c.1255-878_1255-854dupAAAAAAAAAAAAAAAAAAAAAAAAA	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMAD5_chr5_136127845_136187733	136183496	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	294	0.0034	25	c.60 others(36): Show c.6016_*6017insAAAAAAAAAAAAAAAAAAAAAAAAA	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding		764		chr5	TogoVar
SMAD6_chr15_66697236_66787849	66774833	A A	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	336	0.0030	25	c.953 others(42): Show c.953-6145_953-6121dupATTTTATTTTATTTTATTTTATTTT	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAP1_chr6_70662883_70867003	70725093	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	306	0.0033	25	c.119 others(42): Show c.119-7268_119-7244dupTTTTTTTTTTTTTTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCB1_chr22_23781966_23843009	23799679	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0175 a0001c0002t0003g0175	1	363	0.0028	25	c.363 others(42): Show c.363-1242_363-1241insTTTTTTTTTTTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47671173	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	219	0.0046	25	c.184 others(42): Show c.1840-481_1840-457dupTTTTTTTTTTTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47749670	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0167 a0001c0002t0002g0167	1	219	0.0046	25	c.316 others(42): Show c.316-3678_316-3677insGTGTGTGTGTGTGTGTGTGTGTGTG	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02055.hp1 HG00323.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0136 a0001c0001t0013g0137 a0001c0001t0001g0136 a0001c0001t0013g0137	2	213	0.0094	25	c.242 others(42): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	213	0.0047	25	c.125 others(42): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19063.hp2 HG02698.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0002 a0002c0006t0002 a0001c0004t0002 a0002c0006t0002	a0001c0004t0002g0100 a0002c0006t0002g0114 a0001c0004t0002g0100 a0002c0006t0002g0114	2	340	0.0059	25	c.226 others(42): Show c.2260+988_2260+989insTATATATATATATATATATATATAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO2_chr12_27441736_27507185	27477634	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp2 HG02723.hp1 HG03041.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0320 a0005c0014t0001g0321 a0005c0014t0001g0320 a0005c0014t0001g0321	2	360	0.0056	25	c.512 others(42): Show c.512+1919_512+1920insTTTTTTTTTTTTTTTTTTTTTTTTT	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMG6_chr17_2054843_2308785	2114906	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03688.hp2 HG02615.hp1 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0002 a0001c0001t0006 a0002c0002t0002	a0001c0001t0006g0132 a0002c0002t0002g0047 a0001c0001t0006g0132 a0002c0002t0002g0047	2	278	0.0072	25	c.335 others(46): Show c.3358-29030_3358-29006dupATTTTATTTTATTTTATTTTATTT T	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2253119	T T	TTTTATTT others(18): Show TTTTATTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0217 a0003c0003t0002g0217	1	278	0.0036	25	c.266 others(44): Show c.2662-8401_2662-8400insTAAATAAATAAATAAATAAAATAAA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	8/18			chr17	TogoVar
SMG8_chr17_59205035_59220230	59208569	A A	AATATATA others(18): Show AATATATATAATATATATTATTATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	25	c.-14 others(36): Show c.-1483_-1482insATATATATAATATATATTATTATGT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		1465		chr17	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01074.hp2 others(25): Show HG00733.hp2 HG00738.hp2 HG01074.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp1 HG01975.hp2 HG02071.hp2 HG02129.hp1 HG02155.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp2 HG03098.hp2 HG03471.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG04199.hp1 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18990.hp2 NA19058.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0028 a0001c0001t0033 a0001c0001t0037 a0001c0001t0062 a0001c0006t0002 a0001c0007t0002	a0001c0001t0002g0003 a0001c0001t0002g0043 a0001c0001t0002g0045 others(18): Show a0001c0001t0002g0003 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0001t0003g0044 a0001c0001t0003g0082 a0001c0001t0009g0054 a0001c0001t0009g0075 a0001c0001t0016g0042 a0001c0001t0016g0046 a0001c0001t0018g0020 a0001c0001t0019g0086 a0001c0001t0028g0098 a0001c0001t0033g0050 a0001c0001t0037g0047 a0001c0001t0062g0202 a0001c0006t0002g0048 a0001c0007t0002g0053	28	320	0.0875	25	c.-7+ others(40): Show c.-7+1751_-7+1752insTTTTTTTTTTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13			chr19	TogoVar
SMIM12_chr1_34845362_34864749	34862182	A A	ACACACGC others(18): Show ACACACGCAGCACAGAGGAGGATCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0144	a0001c0001t0144g0059 a0001c0001t0144g0059	1	382	0.0026	25	c.-25 others(36): Show c.-2512_-2511insAAGATCCTCCTCTGTGCTGCGTGTG	SMIM12	ENSG00000163866.9	transcript	ENST00000521580.3	protein_coding		2434		chr1	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0267 a0001c0001t0012g0267	1	344	0.0029	25	c.76- others(42): Show c.76-12019_76-12018insTTTTTTTTTTTTTTTTTTTTTTTTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619630	C C	CTATATAT others(18): Show CTATATATCAATAAATATAATTTATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp2 HG02145.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0198 a0001c0001t0001g0199	2	344	0.0058	25	c.-35 others(44): Show c.-35-14475_-35-14451dupAATAAATTATATTTATTGATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56658693	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03471.hp1 NA19240.hp2 others(1): Show HG03098.hp1 HG03471.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020	a0001c0001t0010g0207 a0001c0001t0014g0029 a0001c0001t0020g0202 a0001c0001t0010g0207 a0001c0001t0014g0029 a0001c0001t0020g0202	4	418	0.0096	25	c.34 others(36): Show c.3480_*3481insAAAAAAAAAAAAAAAAAAAAAGAAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		1447		chr19	TogoVar
SMIM28_chr6_138372905_138388486	138380787	T T	TAAATAAA others(18): Show TAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG03130.hp1 others(3): Show HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03579.hp1 NA18522.hp1 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0033 a0002c0002t0002g0036 others(1): Show a0002c0002t0002g0014 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0037	6	374	0.0160	25	c.112 others(42): Show c.112-1709_112-1708insAAATAAATAAATAAATAAATAAAAT	SMIM28	ENSG00000262543.2	transcript	ENST00000573100.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(18): Show CCTCGGCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03710.hp1 HG06807.hp1 others(1): Show HG02572.hp2 HG03710.hp1 HG06807.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0070 a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0070	4	380	0.0105	25	c.17 others(36): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM31_chr4_164749131_164808795	164755534	A A	AGGAGGGG others(18): Show AGGAGGGGAGAGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0230 a0001c0001t0007g0230	1	364	0.0028	25	c.-26 others(42): Show c.-26+1127_-26+1128insGGGAGAGGAGGGGAGGGGAGGGGAG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164755534	A A	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02622.hp2 HG03098.hp1 others(4): Show HG01192.hp2 HG02622.hp2 HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03669.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019	a0001c0001t0001g0262 a0001c0001t0002g0263 a0001c0001t0003g0239 others(4): Show a0001c0001t0001g0262 a0001c0001t0002g0263 a0001c0001t0003g0239 a0001c0001t0008g0265 a0001c0001t0012g0241 a0001c0001t0019g0240 a0001c0001t0019g0264	7	364	0.0192	25	c.-26 others(42): Show c.-26+1127_-26+1128insGGGAGGGGAGGGGAGGGGAGGGGAG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164755539	A A	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02071.hp1 HG02132.hp1 others(20): Show HG02027.hp2 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG04204.hp2 NA18940.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp2 NA18971.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18992.hp2 NA18994.hp2 NA19006.hp2 NA19011.hp2 NA19060.hp1 NA19066.hp1 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0031 a0001c0004t0003	a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0323 others(20): Show a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0353 a0001c0001t0002g0348 a0001c0001t0002g0352 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0003g0099 a0001c0001t0003g0322 a0001c0001t0003g0327 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0324 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0005g0359 a0001c0001t0031g0325 a0001c0004t0003g0318	23	364	0.0632	25	c.-26 others(42): Show c.-26+1150_-26+1174dupGAGGGGAGGGGAGGGGAGGGGAGGG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM36_chr17_55444856_55516452	55500830	T T	TATATATT others(18): Show TATATATTATAATATATTATATTATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0137 a0001c0001t0005g0138	2	340	0.0059	25	c.17 others(46): Show c.174+10024_*174+10048dupTATAATATAATATATTATAATATA T	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMKR1_chr7_129497531_129517918	129498482	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	25	c.-43 others(36): Show c.-4343_-4342insAAAAGAAAAGAAAAGAAAAGAAAAG	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4048		chr7	TogoVar

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Search Results (Total: 8644 hits)