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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RSPRY1_chr16_57181329_57245469	57200955	GGGGGGGC others(41): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18973.hp2 NA19082.hp2 HG02056.hp1 NA18973.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0234 a0001c0001t0002g0252 a0001c0001t0023g0310 a0001c0001t0002g0234 a0001c0001t0002g0252 a0001c0001t0023g0310	3	358	0.0084	-48	c.-15 others(67): Show c.-155-3517_-155-3470delCGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGA		RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
RSRC1_chr3_158105089_158550730	158312132	GAGAGCAC others(41): Show GAGAGCACCTATTATACTCTAAAATAGCTTCTAACTTGACATGTGCAAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02055.hp1 others(3): Show HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02622.hp2 HG02647.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0013 a0003c0005t0013 a0001c0001t0002 a0001c0001t0013 a0003c0005t0013	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0013g0001 a0003c0005t0013g0043	6	276	0.0217	-48	c.531 others(67): Show c.531+14061_531+14108delGCACCTATTATACTCTAAAATAGCTT CTAACTTGACATGTGCAAAAGA		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RTL4_chrX_112078016_112462514	112236398	AATATAGA others(41): Show AATATAGATATAGATCTATATCTATATATAGATATAGATCTATATCTAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02257.hp2 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0131 a0001c0002t0004g0030 a0001c0002t0002g0131 a0001c0002t0004g0030	2	134	0.0149	-48	c.-44 others(69): Show c.-444-69900_-444-69853delCTATATCTATATATAGATATAGAT CTATATCTATATATAGATATAGAT		RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL5_chrX_72122110_72136915	72129378	GCCTGTCC others(41): Show GCCTGTCCTCTTGCTCATTGGGGCAGATCAGTGAGGCATTGGGTGAAGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0000 a0002c0002t0027g0000	1	308	0.0033	-48	c.40 others(57): Show c.405_*452delACTTCACCCAATGCCTCACTGATCTGCCCCAATGAG CAAGAGGACAGG		RTL5	ENSG00000242732.6	transcript	ENST00000609883.3	protein_coding	1/1				405		chrX	TogoVar
RTN1_chr14_59590983_59875776	59749613	TTATATAG others(41): Show TTATATAGATATCTATATATAGATATCTATATATATTTATATAGATATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(60): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02080.hp1 HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03516.hp2 HG03579.hp2 HG03942.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18944.hp2 NA18955.hp1 NA18965.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19012.hp1 NA19068.hp2 NA19082.hp2 NA19085.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0001t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(60): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0003t0001g0072 a0001c0003t0001g0101 a0001c0003t0001g0106	63	172	0.3663	-48	c.242 others(65): Show c.242-3180_242-3133delGATATCTATATAAATATATATAGATATC TATATATAGATATCTATATA		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RTP5_chr2_241864729_241878823	241877604	TCCCCCAG others(41): Show TCCCCCAGCTCCCCGGCCACCGCTCAGCTCCCTGGCCACCGCTCAGCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	365	0.0027	-48	c.43 others(59): Show c.4331_*4378delCCCCCAGCTCCCCGGCCACCGCTCAGCTCCCTGG CCACCGCTCAGCTC		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					3782		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87715251	TATTATAT others(41): Show TATTATATATAATTAATTTATAATAATTATATATAATTAATTTATAATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 NA19043.hp2 HG02572.hp2 HG02723.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0047 a0001c0001t0058 a0001c0001t0042 a0001c0001t0047 a0001c0001t0058	a0001c0001t0042g0148 a0001c0001t0047g0012 a0001c0001t0058g0018 a0001c0001t0042g0148 a0001c0001t0047g0012 a0001c0001t0058g0018	3	202	0.0149	-48	c.458 others(65): Show c.458+4677_458+4724delTAATTAATTTATAATAATTATATATAAT TAATTTATAATAATTATATA		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
RYR2_chr1_237037184_237838988	237307929	AGGCTAGG others(41): Show AGGCTAGGAAAATGAGGCCGGGACTTGCTGAGACTCCATCTTGACTGAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0094 a0003c0006t0002g0094	1	100	0.0100	-48	c.169 others(67): Show c.169-22880_169-22833delGACTTGCTGAGACTCCATCTTGACTG AGGGCTAGGAAAATGAGGCCGG		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02280.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0040 a0001c0001 a0001c0040	a0001c0001t0007 a0001c0040t0039 a0001c0001t0007 a0001c0040t0039	a0001c0001t0007g0011 a0001c0040t0039g0095 a0001c0001t0007g0011 a0001c0040t0039g0095	2	100	0.0200	-48	c.576 others(65): Show c.576+2940_576+2987delTATATATATATATATATATATATATATA TATATATATATATATATATA		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	939398	GCCTCCCC others(41): Show GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01515.hp2 others(8): Show HG00735.hp2 HG01081.hp1 HG01515.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02148.hp1 HG02293.hp2 HG02738.hp2 HG03130.hp2	a0003 a0025 a0003 a0025	a0003c0006 a0003c0031 a0025c0045 a0003c0006 a0003c0031 a0025c0045	a0003c0006t0001 a0003c0006t0002 a0003c0006t0003 others(2): Show a0003c0006t0001 a0003c0006t0002 a0003c0006t0003 a0003c0031t0002 a0025c0045t0003	a0003c0006t0001g0089 a0003c0006t0001g0102 a0003c0006t0002g0261 others(8): Show a0003c0006t0001g0089 a0003c0006t0001g0102 a0003c0006t0002g0261 a0003c0006t0003g0181 a0003c0006t0003g0183 a0003c0006t0003g0193 a0003c0006t0003g0194 a0003c0006t0003g0213 a0003c0006t0003g0221 a0003c0031t0002g0299 a0025c0045t0003g0192	11	434	0.0254	-48	c.119 others(63): Show c.1195+25_1195+72delCCCCTCATCACCTCCCCAGCCACGGTGAGG ACCCACCCTGGCATGATC		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118605765	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG02717.hp1 others(6): Show HG00639.hp2 HG01071.hp1 HG02717.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0002	a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0185 others(6): Show a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0003g0182 a0001c0001t0003g0188 a0001c0001t0004g0184 a0001c0003t0002g0181 a0001c0003t0002g0186	9	188	0.0479	-48	c.13+ others(65): Show c.13+15991_13+16038delATATATATATATATATATATATATATAT ATATATATATATATATATAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3						chr8	TogoVar
SARDH_chr9_133658560_133743352	133665675	CACAGGAC others(41): Show CACAGGACCATGGTCTTGCCCGAGGCCTGGCGGTGTCCCCTCCCCATTG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0158 a0003c0003t0003g0158	1	262	0.0038	-48	c.263 others(67): Show c.2631+1012_2631+1059delCAATGGGGAGGGGACACCGCCAGGCC TCGGGCAAGACCATGGTCCTGT		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	20/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133668647	CCCCTACC others(41): Show CCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19240.hp2 NA19043.hp1 NA19240.hp2	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0142 a0003c0032t0001g0156 a0003c0032t0001g0142 a0003c0032t0001g0156	2	262	0.0076	-48	c.249 others(67): Show c.2496-1825_2496-1778delAGAGGGAGGGTGAGGGGAGAGGGAGG GTGAGGGAGAGGGAGGGTAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133669176	CACCTTCC others(41): Show CACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 HG01123.hp1 HG01255.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0112 a0002c0015t0001g0115 a0002c0015t0001g0112 a0002c0015t0001g0115	2	262	0.0076	-48	c.249 others(67): Show c.2495+1360_2495+1407delAAGGGAGAGGGAGGGTGAGGGAGATG GAGGGTGAGGGAGAGGGAAGGT		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG01928.hp2 others(13): Show HG00423.hp2 HG00609.hp1 HG01928.hp2 HG02451.hp2 HG02698.hp1 HG02965.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03942.hp1 HG04115.hp1 NA18970.hp1 NA19010.hp1 NA19043.hp1 NA19082.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0005c0026	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0003t0002 a0001c0003t0005 a0001c0003t0014 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0004t0004 a0005c0026t0001	a0001c0001t0002g0251 a0001c0001t0005g0098 a0001c0001t0011g0321 others(13): Show a0001c0001t0002g0251 a0001c0001t0005g0098 a0001c0001t0011g0321 a0001c0003t0002g0138 a0001c0003t0005g0306 a0001c0003t0014g0087 a0002c0002t0001g0209 a0002c0002t0002g0029 a0002c0002t0003g0163 a0002c0002t0004g0031 a0002c0002t0004g0035 a0002c0002t0004g0203 a0002c0002t0004g0233 a0002c0002t0004g0281 a0002c0004t0004g0229 a0005c0026t0001g0263	16	322	0.0497	-48	c.157 others(65): Show c.157-2489_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421130	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0164 a0001c0013t0001g0164	1	322	0.0031	-48	c.286 others(67): Show c.286-19050_286-19003delGAAGGAAGGAAGGAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAG		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148486936	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0304 a0001c0001t0007g0304	1	322	0.0031	-48	c.628 others(63): Show c.628-667_628-620delATATATATATATATATATATATATATATAT ATATATATATATATATAT		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF11_chr12_45914131_45995574	45972903	TATATAGA others(41): Show TATATAGATATATATATAGATATATAGATATATATAGATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0225 a0008c0013t0001g0226 a0008c0013t0001g0225 a0008c0013t0001g0226	2	344	0.0058	-48	c.-21 others(65): Show c.-21-8763_-21-8716delCTATATATATATCTATATATATCTATAT ATCTATATATATATCTATAT		SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14						chr12	TogoVar
SCARA3_chr8_27628902_27678018	27664702	TGTCCTAG others(41): Show TGTCCTAGTCATGCGTGGAGTTTTCATGTGTGGAGTTCCATGACTAGGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG01943.hp2 others(16): Show HG00609.hp1 HG00621.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02148.hp1 HG02300.hp1 NA18939.hp1 NA18945.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18992.hp1 NA19059.hp1 NA19070.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0029 a0004c0004t0001 a0001c0001t0001 a0001c0001t0029 a0004c0004t0001	a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0187 others(16): Show a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0259 a0001c0001t0029g0174 a0004c0004t0001g0203	19	408	0.0466	-48	c.136 others(67): Show c.1369+5231_1369+5278delTTTTCATGTGTGGAGTTCCATGACTA GGAGTCCTAGTCATGCGTGGAG		SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA5_chr8_27864883_27997673	27885012	GCACCATC others(41): Show GCACCATCTTGGCCGGGTGGACAAGGAAGGAAATGAGAGAGAGGGCAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01261.hp1 others(24): Show HG01109.hp2 HG01243.hp1 HG01261.hp1 HG01884.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(15): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0010 a0001c0003t0026 a0001c0003t0040 a0001c0003t0042 a0001c0003t0044 a0001c0003t0060 a0001c0007t0001 a0001c0007t0002 a0001c0007t0004 a0001c0007t0010 a0001c0007t0013 a0001c0007t0014 a0001c0007t0026 a0001c0007t0050	a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0256 others(24): Show a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0002g0012 a0001c0003t0002g0029 a0001c0003t0004g0172 a0001c0003t0009g0013 a0001c0003t0009g0036 a0001c0003t0010g0111 a0001c0003t0010g0112 a0001c0003t0026g0128 a0001c0003t0026g0129 a0001c0003t0040g0030 a0001c0003t0042g0009 a0001c0003t0044g0008 a0001c0003t0060g0259 a0001c0007t0001g0117 a0001c0007t0002g0019 a0001c0007t0002g0097 a0001c0007t0004g0121 a0001c0007t0004g0159 a0001c0007t0010g0016 a0001c0007t0013g0251 a0001c0007t0014g0136 a0001c0007t0026g0205 a0001c0007t0050g0002	27	314	0.0860	-48	c.115 others(67): Show c.1154-5294_1154-5247delTCTGCCCTCTCTCTCATTTCCTTCCT TGTCCACCCGGCCAAGATGGTG		SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	7/8						chr8	TogoVar
SCD5_chr4_82624539_82803796	82679235	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG01167.hp1 others(49): Show HG00642.hp1 HG00673.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02165.hp1 HG02486.hp2 HG02723.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp1 HG03710.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA19007.hp1 NA19060.hp2 NA19066.hp2 NA19077.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0024	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 others(49): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0171 a0001c0001t0002g0013 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0003g0078 a0001c0001t0003g0189 a0001c0001t0010g0196 a0001c0001t0010g0199 a0001c0001t0011g0004 a0001c0001t0011g0010 a0001c0001t0014g0091 a0001c0001t0024g0051	52	210	0.2476	-48	c.569 others(65): Show c.569+1424_569+1471delCTTCTTTCTTTCTTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTC		SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4						chr4	TogoVar
SCHIP1_chr3_159268244_159902359	159704864	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTATTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG01243.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0017 a0001c0002t0003g0083 a0001c0002t0001g0017 a0001c0002t0003g0083	2	100	0.0200	-48	c.64- others(65): Show c.64-59550_64-59503delTTTCTTTCTTTCTTTATTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963376	TATATATA others(41): Show TATATATATATGATGGAGATATATATATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01175.hp2 others(8): Show HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG02027.hp1 HG02080.hp2 HG02109.hp1 HG02809.hp2 HG03239.hp1 NA18612.hp2 NA19060.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0001c0002t0004 a0003c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0004 a0003c0004t0001 a0003c0004t0012	a0001c0002t0001g0170 a0001c0002t0001g0193 a0001c0002t0001g0238 others(8): Show a0001c0002t0001g0170 a0001c0002t0001g0193 a0001c0002t0001g0238 a0001c0002t0004g0041 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0195 a0003c0004t0001g0063 a0003c0004t0001g0064 a0003c0004t0001g0232 a0003c0004t0012g0229	11	314	0.0350	-48	c.-27 others(67): Show c.-279-3001_-279-2954delCTCCATCATATATATATATATATATA TATATCTCCATCATATATATAT		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29						chr3	TogoVar
SCN3A_chr2_165082526_165209050	165190498	ATATATAT others(41): Show ATATATATAACTTTATATATATAACTTTATATATATAACATTTTATATT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	314	0.0032	-48	c.-24 others(67): Show c.-247-3799_-247-3752delAATATAAAATGTTATATATATAAAGT TATATATATAAAGTTATATATA		SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	1/27						chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23333101	GGAAGGAA others(41): Show GGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02071.hp1 HG02135.hp2 others(2): Show HG01884.hp2 HG02071.hp1 HG02135.hp2 NA18949.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0221 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0221 a0001c0001t0001g0298 a0001c0013t0001g0067	5	306	0.0163	-48	c.-8- others(65): Show c.-8-15481_-8-15434delGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAAAGAAGGAAGG		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCTR_chr2_119434843_119529483	119444392	CACATATA others(41): Show CACATATACGTATGAATATATATACCCATATACGTATGAATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03704.hp1 HG03831.hp2 others(1): Show HG01934.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0151 a0001c0001t0001g0222 a0001c0001t0001g0233 others(1): Show a0001c0001t0001g0151 a0001c0001t0001g0222 a0001c0001t0001g0233 a0001c0001t0004g0011	4	290	0.0138	-48	c.114 others(67): Show c.1140+2319_1140+2366delATGTGTATATTCATACGTATATGGGT ATATATATTCATACGTATATGT		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12						chr2	TogoVar
SCTR_chr2_119434843_119529483	119444878	TACACATA others(41): Show TACACATATATTCGTACGAATATATATACATATATTCGTACGAATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00609.hp2 others(23): Show HG00140.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01358.hp1 HG01934.hp1 HG01943.hp2 HG02293.hp2 HG02683.hp2 HG02723.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp2 NA18945.hp1 NA18966.hp2 NA19083.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0122 others(23): Show a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0209 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0234 a0001c0001t0002g0249 a0001c0001t0002g0270 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0028 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0081 a0001c0001t0006g0287	26	290	0.0897	-48	c.114 others(67): Show c.1140+1833_1140+1880delGTATATTCGTACGAATATATGTATAT ATATTCGTACGAATATATGTGT		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12						chr2	TogoVar
SCTR_chr2_119434843_119529483	119444882	CATATATT others(41): Show CATATATTCGTACGAATATATATACATATATTCGTACGAATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03831.hp2 HG03704.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0222 a0001c0001t0004g0011 a0001c0001t0001g0222 a0001c0001t0004g0011	2	290	0.0069	-48	c.114 others(67): Show c.1140+1829_1140+1876delATGTGTATATTCGTACGAATATATGT ATATATATTCGTACGAATATAT		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12						chr2	TogoVar
SCT_chr11_621309_632181	628919	TTCTTTCT others(41): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	411	0.0024	-48	c.-18 others(59): Show c.-1824_-1777delGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					1739		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43280446	TGTCCCTT others(41): Show TGTCCCTTCCCCTCACCCATCCTCCCGTCCCTTCCCCTCACCCATCCCC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp2 HG03453.hp2 NA18906.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0001 a0002c0002 a0003c0001	a0002c0002t0029 a0003c0001t0085 a0002c0002t0029 a0003c0001t0085	a0002c0002t0029g0003 a0003c0001t0085g0267 a0002c0002t0029g0003 a0003c0001t0085g0267	2	280	0.0071	-48	c.484 others(67): Show c.484+10552_484+10599delGGGGATGGGTGAGGGGAAGGGACGGG AGGATGGGTGAGGGGAAGGGAC		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280859	TCCTCCTC others(41): Show TCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01981.hp2 NA19043.hp1 HG00408.hp1 HG01981.hp2 NA19043.hp1	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0001 a0004c0028 a0006c0015 a0003c0001 a0004c0028 a0006c0015	a0003c0001t0054 a0004c0028t0009 a0006c0015t0007 a0003c0001t0054 a0004c0028t0009 a0006c0015t0007	a0003c0001t0054g0218 a0004c0028t0009g0044 a0006c0015t0007g0183 a0003c0001t0054g0218 a0004c0028t0009g0044 a0006c0015t0007g0183	3	280	0.0107	-48	c.484 others(67): Show c.484+10139_484+10186delGAGATGACAGAAGGGTGGCCAAGGGA GGTGACAGGGTGACTGAGGAGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281396	ATCCTGTC others(41): Show ATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0005 a0002c0009t0005	a0002c0009t0005g0137 a0002c0009t0005g0137	1	280	0.0036	-48	c.484 others(65): Show c.484+9602_484+9649delGGGTGGCCAAGGGAGGTGACAGGAGGAT GGCTGAGGGAGGTGACAGGA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281405	CCTCCCTC others(41): Show CCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02027.hp1 HG02129.hp2 others(4): Show HG01358.hp1 HG02027.hp1 HG02129.hp2 HG02572.hp2 HG02886.hp2 HG03516.hp1 NA18948.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0024 a0002c0002 a0002c0025 others(2): Show a0001c0024 a0002c0002 a0002c0025 a0002c0037 a0003c0001	a0001c0024t0094 a0002c0002t0002 a0002c0025t0073 others(2): Show a0001c0024t0094 a0002c0002t0002 a0002c0025t0073 a0002c0037t0070 a0003c0001t0001	a0001c0024t0094g0271 a0002c0002t0002g0080 a0002c0002t0002g0117 others(4): Show a0001c0024t0094g0271 a0002c0002t0002g0080 a0002c0002t0002g0117 a0002c0025t0073g0258 a0002c0037t0070g0255 a0003c0001t0001g0101 a0003c0001t0001g0215	7	280	0.0250	-48	c.484 others(65): Show c.484+9593_484+9640delATGACAGGAGGGTGGCCAAGGGAGGTGA CAGGAGGATGGCTGAGGGAG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCYGR2_chr2_227593893_227604255	227598935	CGCTGTGG others(41): Show CGCTGTGGTGGCTGCGGTGGTGGCTGTGGTGGTGGCTGTGGTGGTGGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp2 HG03239.hp2 HG00280.hp2 HG03239.hp2	a0016 a0016	a0016c0017 a0016c0018 a0016c0017 a0016c0018	a0016c0017t0000 a0016c0018t0000 a0016c0017t0000 a0016c0018t0000	a0016c0017t0000g0000 a0016c0018t0000g0000 a0016c0017t0000g0000 a0016c0018t0000g0000	2	469	0.0043	-48	c.46_ others(53): Show c.46_93delTGTGGTGGCTGCGGTGGTGGCTGTGGTGGTGGCTGTGGTG GTGGCTGC	p.Cys others(11): Show p.Cys16_Cys31del	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding	1/1	46/363	46/363	16/120		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYGR2_chr2_227593893_227604255	227598949	CGGTGGTG others(41): Show CGGTGGTGGCTGTGGTGGTGGCTGTGGTGGTGGCTGCGGTGGTGGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00639.hp2 HG01099.hp1 others(27): Show HG00099.hp1 HG00639.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02293.hp1 HG02523.hp2 HG02698.hp1 HG02738.hp1 HG03017.hp2 HG03669.hp2 HG03704.hp1 HG03942.hp2 HG04199.hp2 NA18956.hp1 NA18963.hp2 NA18969.hp1 NA18988.hp2 NA19060.hp2 NA19068.hp2 NA19088.hp1 NA20129.hp2 NA20905.hp2	a0005 a0011 a0018 a0005 a0011 a0018	a0005c0005 a0005c0020 a0011c0011 others(1): Show a0005c0005 a0005c0020 a0011c0011 a0018c0019	a0005c0005t0000 a0005c0020t0000 a0011c0011t0000 others(1): Show a0005c0005t0000 a0005c0020t0000 a0011c0011t0000 a0018c0019t0000	a0005c0005t0000g0000 a0005c0020t0000g0000 a0011c0011t0000g0000 others(1): Show a0005c0005t0000g0000 a0005c0020t0000g0000 a0011c0011t0000g0000 a0018c0019t0000g0000	30	469	0.0640	-48	c.81_ others(54): Show c.81_128delTGGTGGTGGCTGCGGTGGTGGCTGTGGTGGTGGCTGTGG TGGTGGCTG	p.Gly others(11): Show p.Gly28_Cys43del	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding	1/1	81/363	81/363	27/120		INFO_REALIGN_3_PRIME	chr2	TogoVar
SDK2_chr17_73329384_73649445	73412022	ATATGTAT others(41): Show ATATGTATATATACGTATATATATGTATATACGTATATGTATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0044 a0008c0044	a0008c0044t0023 a0008c0044t0023	a0008c0044t0023g0068 a0008c0044t0023g0068	1	204	0.0049	-48	c.248 others(67): Show c.2484+2574_2484+2621delCGTATATATACATATACGTATATACA TATATATACGTATATATACATA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44						chr17	TogoVar
SDR16C5_chr8_56295005_56325175	56310184	AAGGAGGA others(41): Show AAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03017.hp1 NA18945.hp1 others(5): Show HG00639.hp1 HG03017.hp1 NA18945.hp1 NA18999.hp1 NA19000.hp2 NA19005.hp2 NA19070.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0102 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0102 a0001c0001t0001g0197 a0001c0001t0001g0225	8	398	0.0201	-48	c.466 others(65): Show c.466-1205_466-1158delCCTTCCTCCTCCTCCTCCTTCCTCCTCC TCCTCCTTCCTCCTCCTCCT		SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6						chr8	TogoVar
SEC63_chr6_107862756_107963208	107953662	TCTGCCCG others(41): Show TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19001.hp2 NA18964.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0239 a0001c0001t0001g0240	2	332	0.0060	-48	c.124 others(65): Show c.124+4176_124+4223delGGGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAG		SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20						chr6	TogoVar
SEH1L_chr18_12943011_12992531	12980425	CCCCCAAC others(41): Show CCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02559.hp2 others(20): Show HG02109.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0003g0013 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330	23	388	0.0593	-48	c.761 others(65): Show c.761+1538_761+1585delAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGATCCCC		SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12980472	ATCCCCCA others(41): Show ATCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	388	0.0026	-48	c.761 others(65): Show c.761+1581_761+1628delTCCCCCAACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTG		SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8						chr18	TogoVar
SELENOI_chr2_26341143_26400885	26370895	CCCTCCCG others(41): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT	C C	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	334	0.0030	-48	c.311 others(65): Show c.311-2469_311-2422delTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCC		SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOI_chr2_26341143_26400885	26370923	GGGGGGCT others(41): Show GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	334	0.0030	-48	c.311 others(65): Show c.311-2438_311-2391delCTGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGG		SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
SEMA3E_chr7_83358238_83654139	83390035	ACACATAT others(41): Show ACACATATATGCGCGTATACGTGTGCACATATATGCGCGTATACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02451.hp1 HG03516.hp1 HG01081.hp2 HG02451.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0051 a0001c0001t0052 a0001c0001t0029 a0001c0001t0051 a0001c0001t0052	a0001c0001t0029g0172 a0001c0001t0051g0046 a0001c0001t0052g0050 a0001c0001t0029g0172 a0001c0001t0051g0046 a0001c0001t0052g0050	3	226	0.0133	-48	c.166 others(67): Show c.1667+2472_1667+2519delCACACGTATACGCGCATATATGTGCA CACGTATACGCGCATATATGTG		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16						chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83390206	CATATATG others(41): Show CATATATGCGCGTATATATGCGCGTATATATGCGCGTATATATGCGCGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01071.hp1 others(23): Show HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01168.hp1 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01934.hp2 HG02083.hp2 HG02109.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02818.hp2 HG03195.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 NA18939.hp2 NA19058.hp1 NA19240.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0022 a0001c0001t0030 a0001c0001t0041 a0001c0001t0046 a0001c0001t0064 a0001c0001t0075 a0001c0001t0093 a0001c0001t0098 a0001c0005t0013 a0001c0005t0015 a0001c0005t0087 a0002c0004t0003 a0002c0004t0031 a0002c0004t0074	a0001c0001t0002g0147 a0001c0001t0003g0130 a0001c0001t0003g0137 others(23): Show a0001c0001t0002g0147 a0001c0001t0003g0130 a0001c0001t0003g0137 a0001c0001t0008g0142 a0001c0001t0009g0092 a0001c0001t0009g0126 a0001c0001t0009g0131 a0001c0001t0009g0136 a0001c0001t0017g0012 a0001c0001t0022g0177 a0001c0001t0030g0141 a0001c0001t0030g0143 a0001c0001t0041g0009 a0001c0001t0046g0034 a0001c0001t0064g0064 a0001c0001t0075g0148 a0001c0001t0093g0183 a0001c0001t0098g0215 a0001c0005t0013g0054 a0001c0005t0013g0057 a0001c0005t0015g0180 a0001c0005t0087g0156 a0002c0004t0003g0132 a0002c0004t0003g0160 a0002c0004t0031g0178 a0002c0004t0074g0162	26	226	0.1150	-48	c.166 others(67): Show c.1667+2301_1667+2348delACGCGCATATATACGCGCATATATAC GCGCATATATACGCGCATATAT		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16						chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89404513	TGCCTGAG others(41): Show TGCCTGAGCATCCCAGGAAGTGGAGTTCCTGTCCCGTCCCCAGCCACCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01074.hp1 others(19): Show HG00642.hp1 HG00735.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01891.hp1 HG01952.hp1 HG02145.hp1 HG02486.hp2 HG03017.hp1 HG03098.hp1 HG03239.hp1 HG03704.hp1 HG03831.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0002c0016t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(19): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0176 a0001c0001t0001g0265 a0001c0001t0003g0013 a0001c0001t0003g0093 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0106 a0001c0001t0003g0130 a0001c0001t0003g0213 a0001c0001t0003g0273 a0001c0001t0010g0096 a0002c0016t0001g0092	22	370	0.0595	-48	c.106 others(63): Show c.106+790_106+837delGGGTGGCTGGGGACGGGACAGGAACTCCAC TTCCTGGGATGCTCAGGC		SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	3/15						chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89404543	GTCCCGTC others(41): Show GTCCCGTCCCCAGCCACCCGCCTCAGCATCCCAGGAAGTGGAGTCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00738.hp1 others(18): Show HG00099.hp1 HG00280.hp2 HG00738.hp1 HG01167.hp2 HG01168.hp1 HG01361.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp2 HG02148.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG03942.hp1 NA20752.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0003c0005 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0004t0004 a0003c0005t0013 a0003c0005t0040 a0005c0008t0001	a0001c0001t0001g0077 a0001c0001t0001g0209 a0001c0001t0001g0212 others(18): Show a0001c0001t0001g0077 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0003g0207 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0004t0004g0208 a0003c0005t0013g0094 a0003c0005t0013g0205 a0003c0005t0013g0206 a0003c0005t0040g0217 a0005c0008t0001g0225 a0005c0008t0001g0275 a0005c0008t0001g0276	21	370	0.0568	-48	c.106 others(63): Show c.106+760_106+807delTGGGGACTCCACTTCCTGGGATGCTGAGGC GGGTGGCTGGGGACGGGA		SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	3/15						chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9384617	TACATAGA others(41): Show TACATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0034 a0001c0002t0004g0034	1	134	0.0075	-48	c.-77 others(65): Show c.-77-4642_-77-4595delCTATATCTATCTATCTATCTATCTATCT ATCTATCTATCTATCTATGT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22						chr5	TogoVar
SENP3_chr17_7556919_7576969	7571864	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG03453.hp1 HG02486.hp2 HG02723.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0160 a0001c0001t0053 a0001c0001t0160	a0001c0001t0053g0017 a0001c0001t0160g0026 a0001c0001t0053g0017 a0001c0001t0160g0026	3	446	0.0067	-48	c.38 others(57): Show c.389_*436delTATATATATATATATATATATATATATATATATATA TAAAAATATATA		SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11				389	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN4_chr17_58515256_58549328	58547632	AACTTTTT others(41): Show AACTTTTTGTTTATCCAATATATTGCAATTATTTCCACCCAGTTTGTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0027 a0002c0003t0001g0027	1	360	0.0028	-48	c.-34 others(59): Show c.-3494_-3447delCAACAAACTGGGTGGAAATAATTGCAATATATTG GATAAACAAAAAGT		SEPTIN4	ENSG00000108387.16	transcript	ENST00000672673.2	protein_coding					3305		chr17	TogoVar
SEPTIN7_chr7_35796057_35912110	35838278	TTCCTTCC others(41): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	346	0.0029	-48	c.169 others(65): Show c.169+5382_169+5429delTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCC		SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 2076 hits)