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
RPP25_chr15_74949418_74961772	74951124	CCTGGCTC others(26): Show CCTGGCTCCCACCGGCTCCCTCACTTCCCTGTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	-33	c.48 others(44): Show c.4827_*4859delTCACAGGGAAGTGAGGGAGCCGGTGGGAGCCAG	RPP25	ENSG00000178718.7	transcript	ENST00000322177.6	protein_coding		3293		chr15	TogoVar
RPP25_chr15_74949418_74961772	74960275	TTTTCATA others(26): Show TTTTCATATATTATTTGTGAATTTAAAAAAATTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	-33	c.-37 others(44): Show c.-3725_-3693delCAATTTTTTTAAATTCACAAATAATATATGAAA	RPP25	ENSG00000178718.7	transcript	ENST00000322177.6	protein_coding		3504		chr15	TogoVar
RPS23_chr5_82268320_82283354	82283235	CCAAAAAA others(26): Show CCAAAAAAAAAAAAAAAAAGAAAAAGACATGAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-33	c.-49 others(44): Show c.-4945_-4913delATTCATGTCTTTTTCTTTTTTTTTTTTTTTTTG	RPS23	ENSG00000186468.13	transcript	ENST00000296674.13	protein_coding		4882		chr5	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00621.hp2 others(42): Show HG00438.hp1 HG00544.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02148.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18961.hp2 NA18967.hp1 NA18974.hp2 NA18978.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA19056.hp1 NA19075.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0001t0027	a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0001g0157 others(42): Show a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0177 a0001c0001t0001g0192 a0001c0001t0001g0266 a0001c0001t0002g0061 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0225 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0275 a0001c0001t0003g0297 a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0290 a0001c0001t0004g0294 a0001c0001t0006g0221 a0001c0001t0006g0237 a0001c0001t0006g0245 a0001c0001t0006g0272 a0001c0001t0007g0022 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0027 a0001c0001t0009g0277 a0001c0001t0014g0080 a0001c0001t0019g0243 a0001c0001t0027g0224	45	304	0.1480	-33	c.142 others(50): Show c.142-1309_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRM1_chr11_4089799_4143932	4121559	GTTTCATT others(26): Show GTTTCATTTTTATTCTGAAGAGAATTATGATTTA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	368	0.0027	-33	c.877 others(45): Show c.877-41_877-9delCATTTTTATTCTGAAGAGAATTATGATTTATTT	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RSF1_chr11_77655009_77825722	77671123	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0032 a0007c0018t0032	a0007c0018t0032g0014 a0007c0018t0032g0014	1	352	0.0028	-33	c.375 others(50): Show c.3751+886_3751+918delATATATATATATATATATTTTTTTTTTT TTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77671125	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp2 NA18957.hp2 HG00597.hp1 HG01192.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0052 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0003g0052 a0001c0002t0003g0061 a0001c0002t0003g0063	3	352	0.0085	-33	c.375 others(50): Show c.3751+884_3751+916delATATATATATATATATATATTTTTTTTT TTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77671127	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03579.hp1 NA19062.hp2 HG02809.hp1 HG03579.hp1 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0036 a0001c0002t0003g0070 a0001c0002t0003g0032 a0001c0002t0003g0036 a0001c0002t0003g0070	3	352	0.0085	-33	c.375 others(50): Show c.3751+882_3751+914delATATATATATATATATATATATTTTTTT TTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSPH1_chr21_42467486_42501224	42476973	TGGGGATG others(26): Show TGGGGATGCCCCACACCCTCTGTCCCACAGCCCG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(62): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02280.hp2 HG02293.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG04228.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp1 NA18962.hp1 NA18965.hp1 NA18977.hp2 NA18980.hp1 NA18990.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19060.hp1 NA19063.hp1 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0017 a0002c0003 a0004c0008 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0004t0001 a0001c0006t0001 a0001c0017t0001 a0002c0003t0001 a0004c0008t0001 a0005c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0146 others(59): Show a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0313 a0001c0001t0001g0319 a0001c0001t0001g0363 a0001c0001t0002g0151 a0001c0001t0002g0198 a0001c0001t0002g0304 a0001c0001t0002g0316 a0001c0001t0002g0327 a0001c0001t0002g0343 a0001c0001t0002g0365 a0001c0001t0003g0196 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0188 a0001c0001t0004g0338 a0001c0001t0004g0344 a0001c0001t0006g0174 a0001c0002t0001g0039 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0109 a0001c0002t0001g0123 a0001c0002t0001g0130 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0124 a0001c0002t0002g0128 a0001c0002t0002g0133 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0211 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0004g0008 a0001c0002t0004g0141 a0001c0004t0001g0308 a0001c0004t0001g0357 a0001c0006t0001g0075 a0001c0017t0001g0354 a0002c0003t0001g0153 a0002c0003t0001g0324 a0004c0008t0001g0272 a0005c0007t0001g0336	65	408	0.1593	-33	c.727 others(48): Show c.727+285_727+317delCGGGCTGTGGGACAGAGGGTGTGGGGCATC CCC	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RTL4_chrX_112078016_112462514	112462470	CTCCAATA others(26): Show CTCCAATAACAGACAGACTGCCTGCTCAAGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00738.hp1 NA18747.hp1 others(2): Show HG00642.hp1 HG00738.hp1 NA18747.hp1 NA18944.hp1 NA18960.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0020 a0002c0001t0001 a0002c0001t0020	a0002c0001t0001g0038 a0002c0001t0001g0058 a0002c0001t0001g0075 others(2): Show a0002c0001t0001g0038 a0002c0001t0001g0058 a0002c0001t0001g0075 a0002c0001t0001g0082 a0002c0001t0020g0023	5	134	0.0373	-33	c.68 others(44): Show c.6810_*6842delTCCAATAACAGACAGACTGCCTGCTCAAGTGTG	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding		4957		chrX	TogoVar
RTP4_chr3_187363385_187377076	187366808	ACCTCCCT others(26): Show ACCTCCCTGTCTCCACCTGGGTGTGAGCATCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0008 a0005c0004t0008	a0005c0004t0008g0004 a0005c0004t0008g0004	1	456	0.0022	-33	c.-16 others(44): Show c.-1633_-1601delCCTCCCTGTCTCCACCTGGGTGTGAGCATCTGT	RTP4	ENSG00000136514.3	transcript	ENST00000259030.3	protein_coding		1576		chr3	TogoVar
RUFY3_chr4_70716964_70813619	70733073	AAGAGAGA others(26): Show AAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03688.hp2 HG01167.hp1 HG01169.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0097 a0001c0001t0002g0162 a0001c0001t0002g0163	3	254	0.0118	-33	c.178 others(52): Show c.178+10337_178+10369delAGAGAGAGGAGAGAGAGAGAGAGAGA GAGAGAG	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUFY3_chr4_70716964_70813619	70733088	AGAGAGAG others(26): Show AGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0155 a0001c0001t0032g0155	1	254	0.0039	-33	c.178 others(52): Show c.178+10341_178+10373delAGAGGAGAGAGAGAGAGAGAGAGAGA GAGGGAG	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87703885	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0187 a0001c0001t0032g0187	1	202	0.0050	-33	c.372 others(50): Show c.372+3354_372+3386delTTTTTGGTTTTTTTTTTTTTTTTTTTTT TTTTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RYR1_chr19_38428691_38592564	38507069	ATGGAACC others(26): Show ATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01123.hp2 others(4): Show HG00438.hp2 HG00621.hp1 HG01123.hp2 HG03710.hp1 NA18951.hp2 NA19063.hp1 NA19074.hp1	a0001 a0013 a0001 a0013	a0001c0013 a0001c0066 a0001c0098 others(2): Show a0001c0013 a0001c0066 a0001c0098 a0001c0117 a0013c0040	a0001c0013t0001 a0001c0066t0001 a0001c0098t0001 others(2): Show a0001c0013t0001 a0001c0066t0001 a0001c0098t0001 a0001c0117t0001 a0013c0040t0001	a0001c0013t0001g0056 a0001c0013t0001g0060 a0001c0013t0001g0115 others(4): Show a0001c0013t0001g0056 a0001c0013t0001g0060 a0001c0013t0001g0115 a0001c0066t0001g0092 a0001c0098t0001g0071 a0001c0117t0001g0120 a0013c0040t0001g0108	7	218	0.0321	-33	c.881 others(50): Show c.8816+118_8816+150delTGGAACCAGAGGGGAGGAGCTAAGGGAG TGGGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	57/105			chr19	TogoVar
RYR1_chr19_38428691_38592564	38588952	CTATAACC others(26): Show CTATAACCCACAGAATAAAAATCCATGAGACCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0001 a0001c0065t0001	a0001c0065t0001g0131 a0001c0065t0001g0131	1	218	0.0046	-33	c.15 others(44): Show c.1533_*1565delTATAACCCACAGAATAAAAATCCATGAGACCAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		1389		chr19	TogoVar
RYR3_chr15_33305967_33871102	33855598	GTATTTCT others(26): Show GTATTTCTGATATCTGCATCCAATTAAGAGCCAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(141): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(48): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052	a0001c0001 a0001c0002 a0001c0003 others(111): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0037 a0001c0046 a0001c0058 a0001c0079 a0001c0082 a0001c0083 a0001c0084 a0001c0095 a0001c0096 a0001c0098 a0001c0099 a0001c0101 a0001c0120 a0002c0049 a0002c0051 a0002c0081 a0002c0088 a0002c0089 a0002c0090 a0002c0091 a0002c0092 a0002c0093 a0002c0119 a0003c0012 a0003c0035 a0003c0043 a0003c0065 a0003c0077 a0003c0078 a0003c0085 a0003c0106 a0003c0121 a0004c0006 a0004c0016 a0004c0068 a0004c0069 a0004c0070 a0004c0113 a0005c0008 a0005c0022 a0005c0028 a0005c0030 a0005c0032 a0005c0040 a0006c0042 a0006c0048 a0006c0061 a0006c0062 a0006c0097 a0007c0021 a0007c0072 a0007c0073 a0008c0007 a0008c0018 a0008c0019 a0009c0063 a0009c0086 a0009c0122 a0010c0054 a0010c0055 a0011c0017 a0011c0112 a0012c0025 a0012c0027 a0013c0057 a0013c0123 a0014c0103 a0015c0011 a0016c0020 a0017c0041 a0018c0031 a0019c0033 a0020c0039 a0021c0034 a0022c0117 a0023c0118 a0024c0023 a0025c0024 a0026c0116 a0027c0038 a0028c0074 a0029c0076 a0030c0075 a0031c0105 a0032c0036 a0033c0100 a0034c0102 a0035c0104 a0036c0060 a0037c0094 a0038c0056 a0039c0064 a0041c0045 a0042c0050 a0043c0052 a0044c0111 a0045c0110 a0046c0114 a0047c0115 a0048c0109 a0049c0066 a0050c0108 a0051c0067 a0052c0071	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(123): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0009t0002 a0001c0010t0001 a0001c0013t0001 a0001c0013t0005 a0001c0014t0002 a0001c0015t0001 a0001c0037t0003 a0001c0046t0011 a0001c0058t0002 a0001c0079t0006 a0001c0082t0002 a0001c0083t0001 a0001c0084t0003 a0001c0095t0001 a0001c0096t0001 a0001c0098t0001 a0001c0099t0002 a0001c0101t0001 a0001c0120t0002 a0002c0049t0003 a0002c0051t0007 a0002c0081t0002 a0002c0088t0002 a0002c0089t0008 a0002c0090t0001 a0002c0091t0003 a0002c0092t0002 a0002c0093t0004 a0002c0119t0001 a0003c0012t0003 a0003c0035t0004 a0003c0043t0001 a0003c0065t0002 a0003c0077t0003 a0003c0078t0003 a0003c0085t0002 a0003c0106t0002 a0003c0121t0008 a0004c0006t0001 a0004c0006t0005 a0004c0016t0002 a0004c0016t0007 a0004c0068t0001 a0004c0069t0006 a0004c0070t0001 a0004c0113t0001 a0005c0008t0001 a0005c0022t0002 a0005c0028t0003 a0005c0030t0001 a0005c0032t0003 a0005c0040t0013 a0006c0042t0001 a0006c0048t0004 a0006c0061t0001 a0006c0062t0001 a0006c0097t0001 a0007c0021t0001 a0007c0072t0004 a0007c0073t0001 a0008c0007t0001 a0008c0018t0003 a0008c0019t0001 a0009c0063t0001 a0009c0086t0002 a0009c0122t0002 a0010c0054t0001 a0010c0055t0005 a0011c0017t0003 a0011c0017t0012 a0011c0112t0003 a0012c0025t0001 a0012c0027t0001 a0013c0057t0003 a0013c0123t0003 a0014c0103t0002 a0015c0011t0009 a0016c0020t0001 a0017c0041t0002 a0018c0031t0003 a0019c0033t0003 a0020c0039t0001 a0021c0034t0001 a0022c0117t0002 a0023c0118t0003 a0024c0023t0004 a0025c0024t0001 a0026c0116t0004 a0027c0038t0008 a0028c0074t0002 a0029c0076t0001 a0030c0075t0002 a0031c0105t0001 a0032c0036t0010 a0033c0100t0001 a0034c0102t0001 a0035c0104t0002 a0036c0060t0001 a0037c0094t0003 a0038c0056t0001 a0039c0064t0003 a0041c0045t0002 a0042c0050t0003 a0043c0052t0001 a0044c0111t0001 a0045c0110t0003 a0046c0114t0003 a0047c0115t0006 a0048c0109t0005 a0049c0066t0002 a0050c0108t0003 a0051c0067t0004 a0052c0071t0003	a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 others(141): Show a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0001t0002g0030 a0001c0001t0002g0101 a0001c0001t0005g0008 a0001c0001t0010g0094 a0001c0002t0001g0018 a0001c0002t0001g0043 a0001c0002t0002g0102 a0001c0002t0007g0146 a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0002g0036 a0001c0003t0006g0029 a0001c0004t0001g0037 a0001c0004t0001g0083 a0001c0004t0001g0127 a0001c0004t0003g0104 a0001c0005t0001g0005 a0001c0005t0001g0027 a0001c0005t0001g0117 a0001c0009t0002g0099 a0001c0009t0002g0132 a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0013t0001g0026 a0001c0013t0005g0084 a0001c0014t0002g0015 a0001c0014t0002g0049 a0001c0015t0001g0077 a0001c0015t0001g0118 a0001c0037t0003g0089 a0001c0046t0011g0065 a0001c0058t0002g0073 a0001c0079t0006g0038 a0001c0082t0002g0025 a0001c0083t0001g0143 a0001c0084t0003g0054 a0001c0095t0001g0041 a0001c0096t0001g0120 a0001c0098t0001g0151 a0001c0099t0002g0139 a0001c0101t0001g0128 a0001c0120t0002g0121 a0002c0049t0003g0013 a0002c0051t0007g0136 a0002c0081t0002g0023 a0002c0088t0002g0072 a0002c0089t0008g0130 a0002c0090t0001g0076 a0002c0091t0003g0154 a0002c0092t0002g0144 a0002c0093t0004g0050 a0002c0119t0001g0090 a0003c0012t0003g0064 a0003c0012t0003g0113 a0003c0035t0004g0111 a0003c0043t0001g0106 a0003c0065t0002g0150 a0003c0077t0003g0012 a0003c0078t0003g0024 a0003c0085t0002g0057 a0003c0106t0002g0080 a0003c0121t0008g0062 a0004c0006t0001g0119 a0004c0006t0001g0149 a0004c0006t0005g0098 a0004c0016t0002g0103 a0004c0016t0007g0116 a0004c0068t0001g0033 a0004c0069t0006g0009 a0004c0070t0001g0010 a0004c0113t0001g0095 a0005c0008t0001g0019 a0005c0008t0001g0124 a0005c0022t0002g0147 a0005c0028t0003g0086 a0005c0030t0001g0007 a0005c0032t0003g0071 a0005c0040t0013g0145 a0006c0042t0001g0031 a0006c0048t0004g0002 a0006c0061t0001g0022 a0006c0062t0001g0107 a0006c0097t0001g0081 a0007c0021t0001g0153 a0007c0072t0004g0045 a0007c0073t0001g0138 a0008c0007t0001g0097 a0008c0007t0001g0100 a0008c0018t0003g0034 a0008c0019t0001g0001 a0009c0063t0001g0126 a0009c0086t0002g0110 a0009c0122t0002g0055 a0010c0054t0001g0112 a0010c0055t0005g0061 a0011c0017t0003g0017 a0011c0017t0012g0079 a0011c0112t0003g0020 a0012c0025t0001g0058 a0012c0027t0001g0046 a0013c0057t0003g0082 a0013c0123t0003g0047 a0014c0103t0002g0129 a0015c0011t0009g0066 a0015c0011t0009g0067 a0016c0020t0001g0074 a0017c0041t0002g0114 a0018c0031t0003g0092 a0019c0033t0003g0152 a0020c0039t0001g0053 a0021c0034t0001g0091 a0022c0117t0002g0123 a0023c0118t0003g0048 a0024c0023t0004g0068 a0025c0024t0001g0109 a0026c0116t0004g0122 a0027c0038t0008g0016 a0028c0074t0002g0148 a0029c0076t0001g0056 a0030c0075t0002g0141 a0031c0105t0001g0085 a0032c0036t0010g0088 a0033c0100t0001g0021 a0034c0102t0001g0078 a0035c0104t0002g0134 a0036c0060t0001g0125 a0037c0094t0003g0070 a0038c0056t0001g0093 a0039c0064t0003g0052 a0041c0045t0002g0133 a0042c0050t0003g0131 a0043c0052t0001g0137 a0044c0111t0001g0028 a0045c0110t0003g0035 a0046c0114t0003g0011 a0047c0115t0006g0042 a0048c0109t0005g0040 a0049c0066t0002g0004 a0050c0108t0003g0087 a0051c0067t0004g0069 a0052c0071t0003g0115	144	154	0.9351	-33	c.140 others(52): Show c.14007+721_14007+753delATTTCTGATATCTGCATCCAATTAAG AGCCAAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	98/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SAMD15_chr14_77372379_77397163	77372932	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0042	1	314	0.0032	-33	c.-44 others(44): Show c.-4486_-4454delTATATATATATATATATATATTTTTTTTTTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4446		chr14	TogoVar
SAP30BP_chr17_75662338_75713059	75698497	GAGACATA others(26): Show GAGACATATGCAGTGGTGGCTGGAGCTGGTTTAC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	370	0.0027	-33	c.308 others(50): Show c.308-1125_308-1093delTTTACAGACATATGCAGTGGTGGCTGGA GCTGG	SAP30BP	ENSG00000161526.15	transcript	ENST00000584667.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133668310	TCTCCCCC others(26): Show TCTCCCCCACCCTCCCTCTCCCTCTCCCTCATTC	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19005.hp1 NA19070.hp1 NA18999.hp1 NA19005.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0002c0012t0001 a0001c0001t0001 a0001c0001t0002 a0002c0012t0001	a0001c0001t0001g0147 a0001c0001t0002g0211 a0002c0012t0001g0111 a0001c0001t0001g0147 a0001c0001t0002g0211 a0002c0012t0001g0111	3	262	0.0115	-33	c.249 others(52): Show c.2496-1473_2496-1441delGAATGAGGGAGAGGGAGAGGGAGGGT GGGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668782	TCCCTCAC others(26): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCATCTC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0003 a0002c0020t0003	a0002c0020t0003g0207 a0002c0020t0003g0207	1	262	0.0038	-33	c.249 others(52): Show c.2495+1769_2495+1801delGAGATGGAGGGTGAGGGAGAGGGAGG GTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668982	CACCCTCC others(26): Show CACCCTCCATCTCCCTCACCCTCCCTCTCCCCTT	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	262	0.0038	-33	c.249 others(52): Show c.2495+1569_2495+1601delAAGGGGAGAGGGAGGGTGAGGGAGAT GGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669047	TACCCTCC others(26): Show TACCCTCCCTCTCCCTCACCCTCCATCTCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01975.hp1 NA19007.hp2 HG01358.hp2 HG01975.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0059 a0002c0020 a0001c0001 a0001c0059 a0002c0020	a0001c0001t0002 a0001c0059t0002 a0002c0020t0001 a0001c0001t0002 a0001c0059t0002 a0002c0020t0001	a0001c0001t0002g0070 a0001c0059t0002g0021 a0002c0020t0001g0181 a0001c0001t0002g0070 a0001c0059t0002g0021 a0002c0020t0001g0181	3	262	0.0115	-33	c.249 others(52): Show c.2495+1504_2495+1536delGAGGGGAGATGGAGGGTGAGGGAGAG GGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109221984	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0379 a0001c0001t0001g0379	1	402	0.0025	-33	c.137 others(50): Show c.137-1992_137-1960delATATATATATATATATATATATATATTT TTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148387583	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0109 a0002c0002t0003g0109	1	322	0.0031	-33	c.157 others(50): Show c.157-2550_157-2518delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148387648	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0283 a0006c0012t0002g0283	1	322	0.0031	-33	c.157 others(50): Show c.157-2483_157-2451delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBF2_chr11_9773668_10299219	10041798	TGATGATA others(26): Show TGATGATACTCTATACGTAGCAGAAACTACAGTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(23): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01123.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01993.hp1 HG02602.hp1 HG02738.hp2 HG03490.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0009	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0005c0006 a0007c0008 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0002c0002t0004 a0003c0004t0003 a0005c0006t0002 a0007c0008t0005 a0009c0014t0002	a0001c0001t0001g0054 a0001c0001t0002g0043 a0001c0001t0002g0044 others(23): Show a0001c0001t0001g0054 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0004g0053 a0001c0001t0004g0067 a0001c0001t0015g0108 a0002c0002t0004g0069 a0003c0004t0003g0182 a0005c0006t0002g0045 a0007c0008t0005g0062 a0007c0008t0005g0063 a0009c0014t0002g0071	26	224	0.1161	-33	c.279 others(50): Show c.279+1013_279+1045delTACTGTAGTTTCTGCTACGTATAGAGTA TCATC	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	3/39			chr11	TogoVar
SBK3_chr19_55535656_55550543	55542258	TCCAATAA others(26): Show TCCAATAAGTTATTCTGTTATTTAATATCCAACA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	438	0.0023	-33	c.400 others(48): Show c.400-765_400-733delTGTTGGATATTAAATAACAGAATAACTTAT TGG	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding	3/3			chr19	TogoVar
SCAF8_chr6_154728416_154839221	154794777	GGGGGTGT others(26): Show GGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	282	0.0036	-33	c.476 others(48): Show c.476-230_476-198delGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTG	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125004759	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0180 a0001c0001t0076g0180	1	306	0.0033	-33	c.862 others(50): Show c.862-1222_862-1190delAAAAAAAAAAAAATATATATATATATAT ATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAMP2_chr15_74838730_74878365	74874652	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG03139.hp1 HG02486.hp2 HG02717.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0163 a0001c0001t0001g0199 a0001c0001t0005g0164 a0001c0001t0001g0163 a0001c0001t0001g0199 a0001c0001t0005g0164	3	386	0.0078	-33	c.-14 others(44): Show c.-1430_-1398delATATATATATATATATATATATATTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1288		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874654	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG03098.hp2 others(3): Show HG02258.hp1 HG02280.hp2 HG03098.hp2 HG03139.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0131 others(3): Show a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0167 a0001c0001t0001g0259 a0001c0001t0005g0165	6	386	0.0155	-33	c.-14 others(44): Show c.-1432_-1400delATATATATATATATATATATATATATTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1290		chr15	TogoVar
SCGB1D2_chr11_62237239_62249812	62237646	GTTTGTGT others(26): Show GTTTGTGTGTGTCTGTGTGTGTATGTGTGTATGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02976.hp2 others(5): Show HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0010 a0002c0004t0001g0012 a0002c0002t0001g0010 a0002c0004t0001g0012	8	436	0.0184	-33	c.-46 others(44): Show c.-4661_-4629delTTTGTGTGTGTCTGTGTGTGTATGTGTGTATGT	SCGB1D2	ENSG00000124935.4	transcript	ENST00000244926.4	protein_coding		4592		chr11	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	368	0.0027	-33	c.154 others(50): Show c.154-3527_154-3495delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCML4_chr6_107697154_107829313	107778207	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 NA18988.hp1 others(1): Show HG00140.hp2 HG00558.hp1 NA18988.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0002t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0005 a0001c0003t0016	a0001c0001t0002g0202 a0001c0001t0004g0196 a0001c0002t0005g0200 others(1): Show a0001c0001t0002g0202 a0001c0001t0004g0196 a0001c0002t0005g0200 a0001c0003t0016g0052	4	250	0.0160	-33	c.-59 others(50): Show c.-59-5854_-59-5822delATATATATATATATATATTTTTTTTTTT TTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813368	AATTATAT others(26): Show AATTATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01243.hp2 others(15): Show HG01167.hp1 HG01169.hp1 HG01243.hp2 HG02055.hp2 HG02257.hp2 HG02615.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03195.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 a0001c0002t0001 a0001c0002t0010 a0001c0002t0029 a0001c0003t0007 a0001c0003t0012 a0001c0003t0015	a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 others(15): Show a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0006g0138 a0001c0001t0014g0128 a0001c0001t0019g0137 a0001c0002t0001g0164 a0001c0002t0010g0129 a0001c0002t0010g0148 a0001c0002t0010g0163 a0001c0002t0029g0151 a0001c0003t0007g0127 a0001c0003t0012g0136 a0001c0003t0015g0160 a0001c0003t0015g0161 a0001c0003t0015g0162	18	250	0.0720	-33	c.-60 others(52): Show c.-60+10725_-60+10757delATATATATATATATATATATATATAT ATATAAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN11A_chr3_38840764_39056944	38877535	CTATATAT others(26): Show CTATATATATGGTATATATATGGTGTATATACTA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp1 HG02280.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0293 a0001c0006t0006g0294 a0001c0006t0006g0293 a0001c0006t0006g0294	2	314	0.0064	-33	c.339 others(52): Show c.3393+2382_3393+2414delTAGTATATACACCATATATATACCAT ATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938534	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0247 a0001c0007t0010g0247	1	314	0.0032	-33	c.488 others(50): Show c.488+6844_488+6876delAAAAAAAAAAAAAAAAATATATATATAT ATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963393	GATATATA others(26): Show GATATATATATATATATATATATATGATGGAGAT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0264 a0001c0001t0020g0264	1	314	0.0032	-33	c.-27 others(52): Show c.-279-3003_-279-2971delATCTCCATCATATATATATATATATA TATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165279008	AAGGAAGC others(26): Show AAGGAAGCAGGGAAGGAAGCATTCTTTACATGCC	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0056 a0002c0003t0001g0056	1	358	0.0028	-33	c.-51 others(52): Show c.-51-16758_-51-16726delCAGGGAAGGAAGCATTCTTTACATGC CAGGAAG	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN9A_chr2_166190185_166380944	166299987	GCTCATCT others(26): Show GCTCATCTTTTTTCTCTTCATTTCTCTGCCATCA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0078 a0001c0003t0006g0078	1	296	0.0034	-33	c.901 others(50): Show c.901+3070_901+3102delTGATGGCAGAGAAATGAAGAGAAAAAAG ATGAG	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	7/26			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288032	AGGCAGGT others(26): Show AGGCAGGTGAGGCTGGGCTGGCAGGGGGTGCGGG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0026 a0026	a0026c0041 a0026c0041	a0026c0041t0001 a0026c0041t0001	a0026c0041t0001g0261 a0026c0041t0001g0261	1	290	0.0035	-33	c.166 others(48): Show c.1662+17_1662+49delAGGGGGTGCGGGGGCAGGTGAGGCTGGGCT GGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289821	TCCCCCGT others(26): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03579.hp2 HG00408.hp1 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0002 a0004c0008t0001 a0001c0001t0002 a0004c0008t0001	a0001c0001t0002g0169 a0004c0008t0001g0262 a0001c0001t0002g0169 a0004c0008t0001g0262	2	290	0.0069	-33	c.166 others(50): Show c.1663-446_1663-414delCCGTGTCTCTGCCCCGTCCCGTGTCCGT CCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289829	GTCTCTGC others(26): Show GTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	290	0.0035	-33	c.166 others(50): Show c.1663-438_1663-406delCTGCCCCGTCCCGTGTCCGTCCCCCGAG TCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDC4_chr20_45320288_45353424	45321852	CAGCCTGG others(26): Show CAGCCTGGGCAACAGAGCGAGACTGTCTAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0096 a0004c0005t0008g0096	1	418	0.0024	-33	c.53 others(44): Show c.5379_*5411delTTTTTTAGACAGTCTCGCTCTGTTGCCCAGGCT	SDC4	ENSG00000124145.6	transcript	ENST00000372733.3	protein_coding		3435		chr20	TogoVar
SDHA_chr5_213320_262082	261798	GCCCCCCG others(26): Show GCCCCCCGACAGAGCATTACCGTGTGAGCTCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02056.hp1 HG02683.hp1 others(3): Show HG00280.hp2 HG02056.hp1 HG02683.hp1 HG02922.hp2 HG04184.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0038 a0001c0001t0002g0068 a0001c0001t0002g0179 others(3): Show a0001c0001t0002g0038 a0001c0001t0002g0068 a0001c0001t0002g0179 a0001c0001t0003g0007 a0001c0001t0003g0096 a0001c0001t0003g0099	6	266	0.0226	-33	c.53 others(44): Show c.5379_*5411delCCCCCCGACAGAGCATTACCGTGTGAGCTCCGC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4717		chr5	TogoVar
SDHA_chr5_213320_262082	261833	CTCCCGTC others(26): Show CTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 NA19085.hp2 HG00738.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0149 a0001c0002t0001g0003 a0001c0002t0001g0149	2	266	0.0075	-33	c.54 others(44): Show c.5414_*5446delTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4752		chr5	TogoVar
SDK1_chr7_3296252_4274000	3655449	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0086 a0012c0086	a0012c0086t0046 a0012c0086t0046	a0012c0086t0046g0012 a0012c0086t0046g0012	1	116	0.0086	-33	c.713 others(52): Show c.713+13345_713+13377delTATATATATATATATATATATATATA TATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3954278	ATCACCTC others(26): Show ATCACCTCTACACTCTACAGCCTCCCCTCCTGCC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG00735.hp1 others(29): Show HG00558.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01361.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG02145.hp1 HG02451.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03688.hp1 HG03710.hp1 NA18906.hp1 NA19043.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0006 a0007 a0012 a0014 a0017 a0018 a0021 a0023 a0028 a0030 a0032	a0001c0002 a0001c0007 a0001c0008 others(25): Show a0001c0002 a0001c0007 a0001c0008 a0001c0032 a0001c0039 a0001c0040 a0001c0048 a0001c0062 a0002c0009 a0002c0041 a0002c0043 a0002c0054 a0003c0001 a0003c0033 a0004c0055 a0004c0056 a0004c0058 a0006c0006 a0007c0077 a0012c0086 a0014c0083 a0017c0024 a0018c0028 a0021c0045 a0023c0035 a0028c0052 a0030c0073 a0032c0075	a0001c0002t0002 a0001c0002t0004 a0001c0002t0040 others(29): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0040 a0001c0007t0003 a0001c0008t0007 a0001c0032t0058 a0001c0039t0050 a0001c0040t0001 a0001c0048t0001 a0001c0062t0053 a0002c0009t0004 a0002c0009t0056 a0002c0041t0007 a0002c0043t0035 a0002c0054t0002 a0003c0001t0063 a0003c0033t0002 a0004c0055t0055 a0004c0056t0006 a0004c0058t0012 a0006c0006t0001 a0006c0006t0012 a0007c0077t0003 a0012c0086t0046 a0014c0083t0044 a0017c0024t0061 a0018c0028t0049 a0021c0045t0015 a0023c0035t0005 a0028c0052t0032 a0030c0073t0001 a0032c0075t0008	a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0002t0040g0084 others(29): Show a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0002t0040g0084 a0001c0007t0003g0033 a0001c0008t0007g0067 a0001c0032t0058g0043 a0001c0039t0050g0022 a0001c0040t0001g0040 a0001c0048t0001g0029 a0001c0062t0053g0042 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0041t0007g0108 a0002c0043t0035g0079 a0002c0054t0002g0101 a0003c0001t0063g0032 a0003c0033t0002g0103 a0004c0055t0055g0021 a0004c0056t0006g0098 a0004c0058t0012g0063 a0006c0006t0001g0036 a0006c0006t0012g0115 a0007c0077t0003g0099 a0012c0086t0046g0012 a0014c0083t0044g0004 a0017c0024t0061g0013 a0018c0028t0049g0035 a0021c0045t0015g0046 a0023c0035t0005g0058 a0028c0052t0032g0107 a0030c0073t0001g0015 a0032c0075t0008g0016	32	116	0.2759	-33	c.115 others(52): Show c.1150+2361_1150+2393delACCTCTACACTCTACAGCCTCCCCTC CTGCCTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	7/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC14L3_chr22_30454229_30477017	30454869	CATAATAT others(26): Show CATAATATATTATTATATATTATATAATAGATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04184.hp2 HG04115.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	2	454	0.0044	-33	c.51 others(44): Show c.5119_*5151delATATCTATTATATAATATATAATAATATATTAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4359		chr22	TogoVar

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