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
SASH1_chr6_148337838_148557044	148387628	C C	CTTCCTTC others(38): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01070.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0212 a0001c0001t0002g0159 a0001c0001t0002g0212	2	322	0.0062	45	c.157 others(62): Show c.157-2504_157-2503insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 NA18522.hp1 others(1): Show HG02572.hp1 HG03195.hp2 NA18522.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0011 a0003c0005t0011 a0003c0003t0011 a0003c0005t0011	a0003c0003t0011g0107 a0003c0005t0011g0043 a0003c0005t0011g0327 a0003c0003t0011g0107 a0003c0005t0011g0043 a0003c0005t0011g0327	4	414	0.0097	45	c.678 others(60): Show c.678-150_678-149insATATATATATATATATATATATATATATAT ATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0295 a0001c0001t0045g0295	1	306	0.0033	45	c.98+ others(62): Show c.98+36510_98+36511insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460758	T T	TTCCTTCC others(38): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0266 a0001c0001t0031g0266	1	332	0.0030	45	c.852 others(62): Show c.852+1429_852+1430insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460762	T T	TTCCTTCC others(38): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0146 a0001c0001t0005g0146	1	332	0.0030	45	c.852 others(62): Show c.852+1433_852+1434insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(38): Show TTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	370	0.0027	45	c.-47 others(56): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0140 a0004c0006t0001g0140	1	312	0.0032	45	c.295 others(66): Show c.2954+16144_2954+16145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGGTGAGA others(38): Show GGGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18966.hp2 HG03942.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0143 a0002c0002t0001g0097 a0002c0002t0001g0143	2	304	0.0066	45	c.244 others(60): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACCCCCCTCCC CCGCCCCCTCTCACC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAG others(38): Show GGTGAGAGGGGGCGGGGGAGGGGGGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19090.hp1 NA18961.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0150 a0002c0002t0001g0120 a0002c0002t0001g0150	2	304	0.0066	45	c.244 others(60): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACCCCCCCTCC CCCGCCCCCTCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAG others(38): Show GGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19055.hp2 HG02083.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0123 a0002c0002t0001g0059 a0002c0002t0001g0123	2	304	0.0066	45	c.244 others(60): Show c.2448-69_2448-68insTTCTCCCCCCGCCCCCTCTCACCCCCCTCC CCCGCCCCCTCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAG others(38): Show GGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01934.hp2 HG02135.hp2 others(3): Show HG01256.hp1 HG01934.hp2 HG02135.hp2 HG03710.hp1 NA19011.hp2 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0121 a0002c0002t0001g0125 others(3): Show a0002c0002t0001g0071 a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0001g0132 a0002c0002t0001g0137 a0002c0002t0001g0139	6	304	0.0197	45	c.244 others(60): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCCTCTCACCCCCCTCC CCCGCCCCCTCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAG others(38): Show GGTGAGAGGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02148.hp1 NA19080.hp2 HG01433.hp1 HG02148.hp1 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0092 a0002c0002t0001g0105 a0002c0002t0001g0064 a0002c0002t0001g0092 a0002c0002t0001g0105	3	304	0.0099	45	c.244 others(60): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACCCCCCTCCC CCGCCCCCCTCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAT others(38): Show GGTGAGATGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	304	0.0033	45	c.244 others(60): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACCCCCCTCCC CCGCCCCCATCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCFD2_chr4_52867982_53371061	53237857	G G	GCCCCTCA others(38): Show GCCCCTCACCTCCTGGATGGGGCGGCTGGCCGGGCAGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01192.hp1 HG01261.hp2 others(14): Show HG00558.hp2 HG01192.hp1 HG01261.hp2 HG02004.hp1 HG02258.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02965.hp2 NA18971.hp1 NA18981.hp1 NA19043.hp2 NA19091.hp2 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0003 a0001c0004t0002 a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 a0007c0014t0003	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0063 others(14): Show a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0002g0057 a0001c0001t0010g0061 a0001c0003t0003g0064 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0004t0002g0053 a0001c0004t0003g0051 a0002c0002t0001g0032 a0002c0002t0002g0050 a0002c0002t0002g0058 a0007c0014t0003g0060	17	162	0.1049	45	c.131 others(66): Show c.1311+35968_1311+35969insGTCAGCCCCCTGCCCGGCCAGCCG CCCCATCCAGGAGGTGAGGGG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53237857	G G	GCCCCTCA others(38): Show GCCCCTCACCTCCTGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(137): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0002c0002 a0002c0006 a0003c0008 a0003c0015 a0004c0011 a0004c0012 a0005c0010 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0003t0003 a0001c0003t0005 a0001c0003t0013 a0001c0004t0003 a0001c0004t0006 a0001c0004t0007 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0001c0009t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0002t0011 a0002c0006t0001 a0002c0006t0003 a0002c0006t0005 a0003c0008t0002 a0003c0008t0008 a0003c0008t0014 a0003c0015t0003 a0004c0011t0003 a0004c0012t0001 a0005c0010t0001 a0006c0013t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(137): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0104 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0004g0044 a0001c0001t0004g0049 a0001c0001t0004g0109 a0001c0001t0006g0161 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0008g0041 a0001c0001t0008g0111 a0001c0001t0012g0116 a0001c0003t0003g0007 a0001c0003t0003g0062 a0001c0003t0003g0074 a0001c0003t0003g0106 a0001c0003t0003g0114 a0001c0003t0003g0132 a0001c0003t0003g0140 a0001c0003t0005g0080 a0001c0003t0005g0120 a0001c0003t0005g0128 a0001c0003t0013g0073 a0001c0004t0003g0134 a0001c0004t0006g0152 a0001c0004t0006g0155 a0001c0004t0006g0158 a0001c0004t0006g0162 a0001c0004t0007g0150 a0001c0004t0007g0151 a0001c0004t0007g0154 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0026 a0001c0005t0001g0034 a0001c0005t0001g0037 a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0005t0003g0046 a0001c0005t0004g0030 a0001c0005t0004g0033 a0001c0007t0001g0029 a0001c0007t0001g0035 a0001c0007t0001g0036 a0001c0007t0003g0025 a0001c0007t0003g0027 a0001c0007t0003g0028 a0001c0009t0009g0153 a0001c0009t0009g0156 a0001c0009t0009g0157 a0002c0002t0001g0005 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0002g0093 a0002c0002t0004g0006 a0002c0002t0008g0097 a0002c0002t0011g0090 a0002c0006t0001g0098 a0002c0006t0003g0015 a0002c0006t0003g0083 a0002c0006t0003g0084 a0002c0006t0005g0089 a0002c0006t0005g0102 a0002c0006t0005g0103 a0003c0008t0002g0146 a0003c0008t0002g0149 a0003c0008t0008g0148 a0003c0008t0014g0145 a0003c0015t0003g0147 a0004c0011t0003g0003 a0004c0012t0001g0004 a0005c0010t0001g0001 a0005c0010t0001g0002 a0006c0013t0001g0031	140	162	0.8642	45	c.131 others(66): Show c.1311+35968_1311+35969insGTCAGCCCCCCGCCCGGCCAGCCG CCCCATCCAGGAGGTGAGGGG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCN1A_chr2_165980813_166133020	166117230	T T	TAGCTTGC others(38): Show TAGCTTGCAACTCAAACAACTACACAAGTGCTTTACCTTAAGACAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0230 a0001c0001t0005g0230	1	356	0.0028	45	c.-14 others(64): Show c.-142+9649_-142+9693dupTTGTCTTAAGGTAAAGCACTTGTGTA GTTGTTTGAGTTGCAAGCT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289848	T T	TCTCTGCC others(38): Show TCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	290	0.0035	45	c.166 others(62): Show c.1663-422_1663-421insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43281514	A A	AGCTATCC others(38): Show AGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0087 a0003c0001t0001g0088 a0003c0001t0001g0087 a0003c0001t0001g0088	2	280	0.0071	45	c.484 others(62): Show c.484+9531_484+9532insCAAGGGAGGTGACAGGAGGATGGCTGAG GGAGGTGACAGGATAGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	AAAAAAAA others(38): Show AAAAAAAAATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0267 a0001c0001t0002g0268	2	376	0.0053	45	c.-32 others(56): Show c.-3205_-3204insATATATATATATATATATATATATATATATATAT ATATTTTTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	AAAAATAT others(38): Show AAAAATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	376	0.0027	45	c.-32 others(56): Show c.-3205_-3204insATATATATATATATATATATATATATATATATAT ATATATATTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(38): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01169.hp2 NA19070.hp1 HG00323.hp2 HG01169.hp2 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0004 a0001c0003t0001 a0003c0004t0001 a0001c0001t0004 a0001c0003t0001 a0003c0004t0001	a0001c0001t0004g0046 a0001c0003t0001g0037 a0003c0004t0001g0268 a0001c0001t0004g0046 a0001c0003t0001g0037 a0003c0004t0001g0268	3	334	0.0090	45	c.61- others(62): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDHA_chr5_213320_262082	239090	A A	AGCAGAAC others(38): Show AGCAGAACCTCAAGAGACCCACAGCCTGGGCCCAGGGAGAGGCGGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01168.hp2 others(7): Show HG00735.hp2 HG01081.hp2 HG01168.hp2 HG02280.hp2 HG02647.hp2 HG03471.hp1 HG03669.hp2 NA18522.hp2 NA18965.hp2 NA19081.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0004 a0004c0005t0004 a0004c0005t0006 a0002c0003t0004 a0004c0005t0004 a0004c0005t0006	a0002c0003t0004g0020 a0002c0003t0004g0101 a0002c0003t0004g0102 others(6): Show a0002c0003t0004g0020 a0002c0003t0004g0101 a0002c0003t0004g0102 a0002c0003t0004g0103 a0002c0003t0004g0104 a0004c0005t0004g0106 a0004c0005t0006g0105 a0004c0005t0006g0107 a0004c0005t0006g0108	10	266	0.0376	45	c.143 others(64): Show c.1433-1263_1433-1262insACCTCAAGAGACCCACAGCCTGGGCC CAGGGAGAGGCGGTGCAGA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SDK1_chr7_3296252_4274000	4191185	A A	ATGGCCCC others(38): Show ATGGCCCCCAGGCCCTCCCCCGCCGCGGTCACGGTGGGTGTCCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp1 HG03041.hp1 HG01243.hp2 HG02976.hp1 HG03041.hp1	a0001 a0021 a0034 a0001 a0021 a0034	a0001c0071 a0021c0045 a0034c0081 a0001c0071 a0021c0045 a0034c0081	a0001c0071t0057 a0021c0045t0015 a0034c0081t0008 a0001c0071t0057 a0021c0045t0015 a0034c0081t0008	a0001c0071t0057g0031 a0021c0045t0015g0046 a0034c0081t0008g0075 a0001c0071t0057g0031 a0021c0045t0015g0046 a0034c0081t0008g0075	3	116	0.0259	45	c.509 others(66): Show c.5098+12624_5098+12625insGGTCACGGTGGGTGTCCTCCTGGC CCCCAGGCCCTCCCCCGCCGC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4191185	A A	ATGGCCCG others(38): Show ATGGCCCGCAGGCCCTCCCCCGCCGCGGTCACGGTGGGTGTCCTCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0077 a0001c0037t0002g0077	1	116	0.0086	45	c.509 others(66): Show c.5098+12605_5098+12606insGCAGGCCCTCCCCCGCCGCGGTCA CGGTGGGTGTCCTCCTGGCCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(38): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	324	0.0031	45	c.11 others(56): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(38): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02698.hp1 NA18968.hp2 others(4): Show HG00621.hp1 HG02698.hp1 NA18968.hp2 NA19002.hp1 NA19054.hp2 NA19064.hp2 NA19084.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0001c0001t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 others(4): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0002g0029 a0001c0001t0002g0030 a0004c0006t0001g0086	7	324	0.0216	45	c.11 others(56): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTT CTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(38): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG03831.hp1 NA18950.hp1 others(1): Show HG01169.hp2 HG03831.hp1 NA18950.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0003 a0002c0009t0003 a0002c0002t0003 a0002c0009t0003	a0002c0002t0003g0187 a0002c0002t0003g0199 a0002c0002t0003g0275 others(1): Show a0002c0002t0003g0187 a0002c0002t0003g0199 a0002c0002t0003g0275 a0002c0009t0003g0257	4	324	0.0124	45	c.11 others(56): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848547	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	324	0.0031	45	c.93 others(54): Show c.937_*938insCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTC TTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		699		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848556	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01884.hp1 HG01952.hp1 others(4): Show HG00597.hp1 HG01884.hp1 HG01952.hp1 NA18943.hp2 NA18995.hp2 NA18999.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0121 a0001c0001t0001g0226 others(4): Show a0001c0001t0001g0070 a0001c0001t0001g0121 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0292	7	324	0.0216	45	c.92 others(54): Show c.928_*929insCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTC TTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		690		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13909038	A A	ATAATATA others(38): Show ATAATATAATAGATCTTTTATTATATTCTATTATATTCTAATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	324	0.0031	45	c.549 others(62): Show c.549+4743_549+4744insATATATTAGAATATAATAGAATATAATA AAAGATCTATTATATTA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SELENOM_chr22_31099777_31112568	31110288	G G	GTAGCATA others(38): Show GTAGCATATAGGAAGACAATTGATTTTTGTATATTAACCTTGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	378	0.0027	45	c.-28 others(56): Show c.-2828_-2784dupGCTGCAAGGTTAATATACAAAAATCAATTGTCTT CCTATATGCTA	SELENOM	ENSG00000198832.11	transcript	ENST00000400299.6	protein_coding		2721		chr22	TogoVar
SEMA5A_chr5_9030033_9551075	9353189	G G	GGGAAAGG others(38): Show GGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0037 a0001c0011t0037	a0001c0011t0037g0065 a0001c0011t0037g0065	1	134	0.0075	45	c.125 others(64): Show c.125-15422_125-15378dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116524789	G G	GACACACA others(38): Show GACACACACACACACAGACACACACACACACAGACACACACACACA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0073 a0001c0001t0013g0073	1	304	0.0033	45	c.-38 others(64): Show c.-38-19808_-38-19807insTGTGTGTGTGTGTCTGTGTGTGTGTG TGTCTGTGTGTGTGTGTGT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SENP7_chr3_101319205_101518212	101410845	A A	AAAAATAA others(38): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0130 a0004c0006t0002g0130	1	370	0.0027	45	c.482 others(62): Show c.482+6747_482+6748insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	5/23			chr3	TogoVar
SEPTIN10_chr2_109537799_109618966	109610095	G G	GTTTTTTT others(38): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	404	0.0025	45	c.30+ others(60): Show c.30+3702_30+3703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	1/10			chr2	TogoVar
SERAC1_chr6_158104519_158173262	158169681	A A	ATATATTA others(38): Show ATATATTATATAATATATTGTATATTATATATTATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	366	0.0027	45	c.-15 others(56): Show c.-1544_-1543insCAATATATTATATAATATATAATATACAATATAT TATATAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1420		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169686	A A	ATATATAT others(38): Show ATATATATTATATAATATATTGTATATTATATAATATATTGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	366	0.0027	45	c.-15 others(56): Show c.-1549_-1548insATATACAATATATTATATAATATACAATATATTA TATAATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1425		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	368	0.0027	45	c.92 others(56): Show c.9279_*9280insATATATATATATATATATATATATTTTTTTTTTT TTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0018 a0001c0001t0016g0018	1	368	0.0027	45	c.92 others(56): Show c.9279_*9280insATATATATATATATATATATATATATTTTTTTTT TTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18991.hp2 NA18984.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0025 a0001c0001t0015g0025	2	368	0.0054	45	c.92 others(56): Show c.9279_*9280insATATATATATATATATATATATATATATTTTTTT TTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0018 a0001c0001t0016g0018	1	368	0.0027	45	c.92 others(56): Show c.9279_*9280insATATATATATATATATATATATATATATATTTTT TTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAT others(38): Show AAAAAAATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0196 a0001c0001t0053g0196	1	368	0.0027	45	c.92 others(56): Show c.9279_*9280insATATATATATATATATATATATATATATATATAT ATATATTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERGEF_chr11_17783048_18018047	17896853	T T	TAAGGGAA others(38): Show TAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	226	0.0044	45	c.101 others(66): Show c.1012-18654_1012-18610dupCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(38): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA19012.hp1 HG02698.hp2 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0334 a0002c0002t0001g0354 a0002c0002t0001g0334 a0002c0002t0001g0354	2	376	0.0053	45	c.101 others(64): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431832	T T	TAGGGTGG others(38): Show TAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0269 a0001c0003t0004g0269	1	376	0.0027	45	c.101 others(64): Show c.1014-1119_1014-1118insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431877	C C	CAGGGTGG others(38): Show CAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0330 a0002c0002t0001g0330	1	376	0.0027	45	c.101 others(64): Show c.1014-1082_1014-1081insTAGGGTGGTTAGGGTGGTTAGGGTGG TTAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431904	T T	TAGGGTGG others(38): Show TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0331 a0001c0001t0002g0331	1	376	0.0027	45	c.101 others(64): Show c.1014-1056_1014-1055insTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431913	T T	TAGGGTGG others(38): Show TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0192 a0001c0004t0003g0192	1	376	0.0027	45	c.101 others(64): Show c.1014-1047_1014-1046insATAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431921	T T	TTAGGGTG others(38): Show TTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0295 a0002c0002t0001g0295	1	376	0.0027	45	c.101 others(64): Show c.1014-1029_1014-1028insACAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431957	T T	TTAGAGTG others(38): Show TTAGAGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0049 a0001c0005t0002g0049	1	376	0.0027	45	c.101 others(64): Show c.1014-1007_1014-1006insAGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGATAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 2640 hits)