Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RUBCNL_chr13_46329681_46392252	46362923	CATATATA others(25): Show CATATATATATATATAGATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18959.hp1 NA18962.hp2 others(4): Show HG02451.hp1 NA18959.hp1 NA18962.hp2 NA19010.hp2 NA19012.hp1 NA19063.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0053 a0001c0001t0054 others(1): Show a0001c0001t0010 a0001c0001t0053 a0001c0001t0054 a0001c0001t0074	a0001c0001t0010g0239 a0001c0001t0010g0240 a0001c0001t0010g0278 others(4): Show a0001c0001t0010g0239 a0001c0001t0010g0240 a0001c0001t0010g0278 a0001c0001t0010g0280 a0001c0001t0053g0160 a0001c0001t0054g0159 a0001c0001t0074g0241	7	125	0.0560	-32	c.925 others(47): Show c.925+160_925+191delATATATATATATATATCTATATATATATAT AT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUFY2_chr10_68338408_68412277	68376440	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 HG02451.hp1 others(14): Show HG01433.hp2 HG02145.hp1 HG02451.hp1 HG02615.hp1 HG02723.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 NA19043.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 others(5): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0037 a0001c0002t0002 a0003c0005t0012	a0001c0001t0008g0260 a0001c0001t0008g0262 a0001c0001t0008g0263 others(14): Show a0001c0001t0008g0260 a0001c0001t0008g0262 a0001c0001t0008g0263 a0001c0001t0008g0264 a0001c0001t0008g0265 a0001c0001t0012g0270 a0001c0001t0012g0272 a0001c0001t0016g0259 a0001c0001t0016g0261 a0001c0001t0016g0266 a0001c0001t0020g0269 a0001c0001t0022g0273 a0001c0001t0022g0274 a0001c0001t0037g0171 a0001c0002t0002g0206 a0001c0002t0002g0252 a0003c0005t0012g0268	17	214	0.0794	-32	c.132 others(49): Show c.1325+381_1325+412delTATATATATATATATATATATATATATA TACA	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY2_chr10_68338408_68412277	68376442	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02055.hp1 others(11): Show HG00639.hp1 HG01891.hp1 HG02055.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0002 a0001c0001t0003g0190 a0001c0001t0003g0191 others(10): Show a0001c0001t0003g0002 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0020g0201	14	212	0.0660	-32	c.132 others(49): Show c.1325+379_1325+410delTATATATATATATATATATATATATATA TATA	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUNDC3B_chr7_87623398_87837296	87703885	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01071.hp2 others(24): Show HG00280.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01169.hp1 HG01346.hp1 HG01433.hp2 HG02622.hp1 HG03017.hp1 HG03492.hp1 HG03704.hp2 HG04184.hp1 HG04228.hp1 NA18940.hp2 NA18952.hp1 NA18963.hp1 NA18970.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18998.hp1 NA19060.hp2 NA19062.hp1 NA19082.hp2 NA19087.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0001t0045 a0001c0001t0048 a0001c0001t0052 a0001c0001t0058 a0001c0001t0061	a0001c0001t0001g0054 a0001c0001t0009g0002 a0001c0001t0009g0190 others(24): Show a0001c0001t0001g0054 a0001c0001t0009g0002 a0001c0001t0009g0190 a0001c0001t0009g0191 a0001c0001t0009g0193 a0001c0001t0009g0197 a0001c0001t0011g0189 a0001c0001t0011g0194 a0001c0001t0011g0195 a0001c0001t0011g0198 a0001c0001t0014g0152 a0001c0001t0014g0155 a0001c0001t0014g0158 a0001c0001t0015g0150 a0001c0001t0015g0151 a0001c0001t0023g0039 a0001c0001t0023g0156 a0001c0001t0028g0002 a0001c0001t0028g0192 a0001c0001t0030g0188 a0001c0001t0033g0037 a0001c0001t0033g0157 a0001c0001t0045g0160 a0001c0001t0048g0153 a0001c0001t0052g0196 a0001c0001t0058g0184 a0001c0001t0061g0185	27	132	0.2045	-32	c.372 others(49): Show c.372+3355_372+3386delTTTTGGTTTTTTTTTTTTTTTTTTTTTT TTTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX2_chr6_45323330_45556082	45404268	AAAAAAAG others(25): Show AAAAAAAGAAAAAGAAAAAAGAAAAAAAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0138 a0001c0001t0017g0138	1	176	0.0057	-32	c.59- others(49): Show c.59-18318_59-18287delGAAAAAGAAAAAAGAAAAAAAAAAGGAA AAAA	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX3_chr1_24894511_24935276	24929544	AGCCCCAG others(25): Show AGCCCCAGGGCCGGCGCCCTCCCGCCCCGGGTC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	363	0.0028	-32	c.282 others(45): Show c.282+11_282+42delGACCCGGGGCGGGAGGGCGCCGGCCCTGGGGC	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding	1/4			chr1	TogoVar
RXRA_chr9_134321455_134445585	134372529	TAGAGGGC others(25): Show TAGAGGGCATCACGGAGGCCTCCCCGTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	230	0.0043	-32	c.29- others(49): Show c.29-29078_29-29047delGTCACCTCAGAGGGCATCACGGAGGCCT CCCC	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RYR1_chr19_38428691_38592564	38497173	CGTCTGGG others(25): Show CGTCTGGGGGCAGGTCCACAGTCTACGCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp2 HG01123.hp1 others(4): Show HG00733.hp2 HG01099.hp2 HG01123.hp1 HG01256.hp1 HG03041.hp2 HG03490.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0033 a0001c0001 a0001c0005 a0001c0033	a0001c0001t0001 a0001c0005t0001 a0001c0033t0001 a0001c0001t0001 a0001c0005t0001 a0001c0033t0001	a0001c0001t0001g0117 a0001c0005t0001g0171 a0001c0005t0001g0172 others(4): Show a0001c0001t0001g0117 a0001c0005t0001g0171 a0001c0005t0001g0172 a0001c0005t0001g0173 a0001c0005t0001g0174 a0001c0005t0001g0175 a0001c0033t0001g0176	7	216	0.0324	-32	c.689 others(49): Show c.6891+221_6891+252delTCTGGGGGCAGGTCCACAGTCTACGCTT CCGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	42/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38497236	AGGCTGGG others(25): Show AGGCTGGGGGCGGATCCGCAGTCTACACTTCCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG03516.hp2 HG01891.hp2 HG02109.hp1 HG03516.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0005 a0001c0014t0001g0020 a0001c0014t0001g0021 a0001c0014t0001g0005 a0001c0014t0001g0020 a0001c0014t0001g0021	3	216	0.0139	-32	c.689 others(49): Show c.6891+302_6891+333delGTCTACACTTCCGGGCTGGGGGCGGATC CGCA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	42/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590388	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA18966.hp1 HG02080.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0049 a0001c0001 a0001c0049	a0001c0001t0001 a0001c0049t0003 a0001c0001t0001 a0001c0049t0003	a0001c0001t0001g0104 a0001c0049t0003g0039 a0001c0001t0001g0104 a0001c0049t0003g0039	2	165	0.0121	-32	c.29 others(43): Show c.2969_*3000delAAAAAAATATATATATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2825		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590390	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 NA18612.hp1 NA18955.hp2 HG02074.hp2 NA18612.hp1 NA18955.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0049 a0001c0003t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0049	3	166	0.0181	-32	c.29 others(43): Show c.2971_*3002delAAAAATATATATATATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2827		chr19	TogoVar
RYR2_chr1_237037184_237838988	237088958	GAGAAGCC others(25): Show GAGAAGCCTTTTCTATTCCCGAATAACAAACCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0013 a0004c0034t0013	a0004c0034t0013g0043 a0004c0034t0013g0043	1	100	0.0100	-32	c.48+ others(49): Show c.48+46391_48+46422delGAAGCCTTTTCTATTCCCGAATAACAAA CCAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01169.hp2 others(13): Show HG00738.hp2 HG01074.hp1 HG01169.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG02055.hp2 HG02293.hp2 HG02451.hp1 HG02922.hp2 HG03831.hp1 NA18946.hp2 NA18962.hp2 NA19066.hp1 NA19066.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0047 a0002c0009 a0003c0006 a0003c0013 a0007c0033	a0001c0001t0003 a0001c0001t0015 a0001c0003t0002 others(13): Show a0001c0001t0003 a0001c0001t0015 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0011 a0001c0005t0014 a0001c0007t0001 a0001c0007t0016 a0001c0008t0025 a0001c0047t0002 a0002c0009t0002 a0002c0009t0004 a0003c0006t0004 a0003c0013t0001 a0007c0033t0008	a0001c0001t0003g0088 a0001c0001t0015g0069 a0001c0003t0002g0090 others(13): Show a0001c0001t0003g0088 a0001c0001t0015g0069 a0001c0003t0002g0090 a0001c0003t0003g0084 a0001c0003t0004g0016 a0001c0004t0011g0093 a0001c0005t0014g0004 a0001c0007t0001g0020 a0001c0007t0016g0042 a0001c0008t0025g0039 a0001c0047t0002g0077 a0002c0009t0002g0079 a0002c0009t0004g0067 a0003c0006t0004g0087 a0003c0013t0001g0091 a0007c0033t0008g0049	16	32	0.5000	-32	c.576 others(49): Show c.576+2956_576+2987delTATATATATATATATATATATATATATA TATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100Z_chr5_76845014_76926650	76906974	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02280.hp2 others(3): Show HG01081.hp1 HG01243.hp1 HG02280.hp2 HG03139.hp2 HG03209.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0001c0002t0008 a0002c0001t0003 a0001c0002t0003 a0001c0002t0008 a0002c0001t0003	a0001c0002t0003g0253 a0001c0002t0008g0180 a0001c0002t0008g0181 others(3): Show a0001c0002t0003g0253 a0001c0002t0008g0180 a0001c0002t0008g0181 a0001c0002t0008g0182 a0001c0002t0008g0183 a0002c0001t0003g0076	6	210	0.0286	-32	c.3- others(49): Show c.3-13741_*3-13710delGTATATATATATATATATATATATATAT ATAT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SAA2_chr11_18240240_18253668	18251910	CTTTATTT others(25): Show CTTTATTTATTTATTTATTTATTTATTTATTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02451.hp2 others(11): Show HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03516.hp1 HG03540.hp1 NA19240.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0002 a0006c0010 others(1): Show a0001c0001 a0002c0002 a0006c0010 a0007c0009	a0001c0001t0001 a0002c0002t0001 a0006c0010t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0006c0010t0001 a0007c0009t0001	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0054 a0002c0002t0001g0066 a0006c0010t0001g0048 a0007c0009t0001g0093	14	346	0.0405	-32	c.-33 others(43): Show c.-3344_-3313delTAAATAAATAAATAAATAAATAAATAAATAAA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3243		chr11	TogoVar
SAG_chr2_233302816_233352055	233330471	CCCTCCCT others(25): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19090.hp1 NA18947.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0023 a0001c0001t0001g0051	2	184	0.0109	-32	c.733 others(47): Show c.733+898_733+929delCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CT	SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAMD15_chr14_77372379_77397163	77372932	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02717.hp1 NA18522.hp1 HG02486.hp2 HG02717.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0002c0002t0002g0043 a0002c0002t0002g0141 a0001c0001t0001g0001 a0002c0002t0002g0043 a0002c0002t0002g0141	3	299	0.0100	-32	c.-44 others(43): Show c.-4486_-4455delTATATATATATATATATATATTTTTTTTTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4446		chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01975.hp2 HG02083.hp1 others(14): Show HG01496.hp2 HG01975.hp2 HG02083.hp1 HG02165.hp1 HG02630.hp1 HG03225.hp2 NA18940.hp2 NA18944.hp1 NA18963.hp1 NA18977.hp2 NA19004.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19066.hp1 NA19085.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0017 a0001c0001 a0001c0011 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 a0001c0001t0028 a0001c0001t0037 a0001c0001t0052 a0001c0001t0067 a0001c0001t0070 a0001c0011t0002 a0001c0017t0021	a0001c0001t0001g0026 a0001c0001t0001g0098 a0001c0001t0001g0254 others(14): Show a0001c0001t0001g0026 a0001c0001t0001g0098 a0001c0001t0001g0254 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0004g0084 a0001c0001t0010g0110 a0001c0001t0011g0157 a0001c0001t0026g0230 a0001c0001t0028g0146 a0001c0001t0028g0147 a0001c0001t0037g0028 a0001c0001t0052g0111 a0001c0001t0067g0144 a0001c0001t0070g0168 a0001c0011t0002g0187 a0001c0017t0021g0038	17	54	0.3148	-32	c.197 others(51): Show c.197-23577_197-23546delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SARDH_chr9_133658560_133743352	133669192	CACCCTCC others(25): Show CACCCTCCATCTCCCTCACCCTCCCTCTCCCTT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0248 a0003c0009t0001g0248	1	241	0.0041	-32	c.249 others(51): Show c.2495+1360_2495+1391delAAGGGAGAGGGAGGGTGAGGGAGATG GAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669200	ATCTCCCT others(25): Show ATCTCCCTCACCCTCCCTCTCCCTTACCCTCCC	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18945.hp1 NA19003.hp1 others(4): Show HG03710.hp1 NA18945.hp1 NA19003.hp1 NA19009.hp2 NA19077.hp1 NA19085.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0027 a0002c0004 a0001c0007 a0001c0027 a0002c0004	a0001c0007t0001 a0001c0027t0001 a0002c0004t0001 a0001c0007t0001 a0001c0027t0001 a0002c0004t0001	a0001c0007t0001g0075 a0001c0027t0001g0103 a0002c0004t0001g0013 others(4): Show a0001c0007t0001g0075 a0001c0027t0001g0103 a0002c0004t0001g0013 a0002c0004t0001g0014 a0002c0004t0001g0017 a0002c0004t0001g0034 a0002c0004t0001g0036	7	136	0.0515	-32	c.249 others(51): Show c.2495+1352_2495+1383delGGGAGGGTAAGGGAGAGGGAGGGTGA GGGAGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133734380	CTCATTCA others(25): Show CTCATTCATTCATTCACTCATTCATTCACTCAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03041.hp2 HG03098.hp1 others(2): Show HG02896.hp1 HG03041.hp2 HG03098.hp1 HG03540.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0017 a0003c0050 a0003c0003 a0003c0017 a0003c0050	a0003c0003t0002 a0003c0017t0001 a0003c0017t0002 others(1): Show a0003c0003t0002 a0003c0017t0001 a0003c0017t0002 a0003c0050t0001	a0003c0003t0002g0005 a0003c0017t0001g0008 a0003c0017t0002g0006 others(2): Show a0003c0003t0002g0005 a0003c0017t0001g0008 a0003c0017t0002g0006 a0003c0017t0002g0007 a0003c0050t0001g0009	5	259	0.0193	-32	c.-30 others(47): Show c.-30-209_-30-178delATGAGTGAATGAATGAGTGAATGAATGAAT GA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	1/20			chr9	TogoVar
SARS2_chr19_38910266_38935763	38920878	CACACAGA others(25): Show CACACAGACACACACACACACAAACACAGATAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	418	0.0024	-32	c.589 others(47): Show c.589+482_589+513delATATCTGTGTTTGTGTGTGTGTGTGTCTGT GT	SARS2	ENSG00000104835.15	transcript	ENST00000221431.11	protein_coding	5/15			chr19	TogoVar
SART1_chr11_65956734_65985137	65971550	GGAGGGGG others(25): Show GGAGGGGGATGGTGGGATTCATGAGCTGCTGAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02809.hp1 HG02922.hp2 others(1): Show HG01106.hp1 HG02809.hp1 HG02922.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0042 a0001c0005t0002g0262 a0001c0005t0002g0263 others(1): Show a0001c0005t0002g0042 a0001c0005t0002g0262 a0001c0005t0002g0263 a0001c0005t0002g0265	4	382	0.0105	-32	c.157 others(51): Show c.1572+3750_1572+3781delTGAGCTGCTGAAGAGGGGGATGGTGG GATTCA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp2 HG01192.hp2 others(4): Show HG00099.hp1 HG01175.hp2 HG01192.hp2 HG02559.hp1 HG02896.hp2 NA18946.hp1 NA19012.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0009 a0001c0015 others(3): Show a0001c0001 a0001c0009 a0001c0015 a0002c0002 a0003c0008 a0004c0012	a0001c0001t0001 a0001c0001t0013 a0001c0009t0001 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0009t0001 a0001c0015t0007 a0002c0002t0003 a0003c0008t0001 a0004c0012t0002	a0001c0001t0001g0151 a0001c0001t0013g0244 a0001c0009t0001g0267 others(4): Show a0001c0001t0001g0151 a0001c0001t0013g0244 a0001c0009t0001g0267 a0001c0015t0007g0215 a0002c0002t0003g0039 a0003c0008t0001g0063 a0004c0012t0002g0257	7	125	0.0560	-32	c.157 others(49): Show c.157-2473_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421134	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG01255.hp2 others(13): Show HG00323.hp2 HG00558.hp2 HG01255.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG04199.hp2 NA18947.hp1 NA18966.hp1 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18990.hp2 NA19010.hp2 NA19056.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0005 a0002c0014 a0002c0025 a0003c0006 a0003c0008 a0005c0016	a0001c0001t0001 a0001c0001t0002 a0001c0003t0010 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0010 a0001c0007t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0029 a0002c0004t0004 a0002c0005t0006 a0002c0014t0001 a0002c0025t0001 a0003c0006t0002 a0003c0008t0003 a0005c0016t0001	a0001c0001t0001g0012 a0001c0001t0002g0200 a0001c0003t0010g0164 others(13): Show a0001c0001t0001g0012 a0001c0001t0002g0200 a0001c0003t0010g0164 a0001c0007t0001g0124 a0002c0002t0001g0188 a0002c0002t0003g0045 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0029g0179 a0002c0004t0004g0132 a0002c0005t0006g0058 a0002c0014t0001g0165 a0002c0025t0001g0290 a0003c0006t0002g0078 a0003c0008t0003g0066 a0005c0016t0001g0246	16	277	0.0578	-32	c.286 others(51): Show c.286-19046_286-19015delGAAGGAAGGAAGAAAGAAAGAAAGAA AGAAAG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148486936	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG02004.hp1 others(13): Show HG01433.hp1 HG01884.hp2 HG02004.hp1 HG02040.hp2 HG02083.hp2 HG02273.hp1 HG02486.hp2 HG02683.hp1 HG02970.hp2 HG03490.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0050 a0001c0001t0001g0152 a0001c0001t0002g0114 others(13): Show a0001c0001t0001g0050 a0001c0001t0001g0152 a0001c0001t0002g0114 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0006g0302 a0002c0002t0001g0208 a0002c0002t0001g0300 a0002c0002t0002g0010 a0002c0002t0002g0097 a0002c0002t0002g0168 a0002c0002t0003g0227 a0002c0002t0004g0082 a0002c0002t0004g0229 a0002c0002t0004g0277 a0002c0002t0004g0278	16	37	0.4324	-32	c.628 others(47): Show c.628-651_628-620delATATATATATATATATATATATATATATAT AT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAT1_chrX_23778173_23791210	23780471	AAAAAAAT others(25): Show AAAAAAATATATATATATATATATATATAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	324	0.0031	-32	c.-28 others(43): Show c.-2880_-2849delAAAAAATATATATATATATATATATATAATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2701		chrX	TogoVar
SBDS_chr7_66982680_67000586	66988949	AGCCTCCG others(25): Show AGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	436	0.0023	-32	c.625 others(47): Show c.625-482_625-451delAGGAGAATCACTTGAACCTGGGAGGCGGAG GC	SBDS	ENSG00000126524.12	transcript	ENST00000246868.7	protein_coding	4/4			chr7	TogoVar
SBK1_chr16_28287525_28328849	28322917	GCGCTCTC others(25): Show GCGCTCTCTCTCTCCCTCTCTCTCTCTCTCTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp1 HG01496.hp1 HG02056.hp2 others(1): Show HG01358.hp1 HG01496.hp1 HG02056.hp2 HG02080.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0020 a0004c0009t0020 a0001c0001t0020 a0004c0009t0020	a0001c0001t0020g0002 a0001c0001t0020g0008 a0001c0001t0020g0059 others(1): Show a0001c0001t0020g0002 a0001c0001t0020g0008 a0001c0001t0020g0059 a0004c0009t0020g0060	4	229	0.0175	-32	c.19 others(43): Show c.1998_*2029delGCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	1998	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322919	GCTCTCTC others(25): Show GCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG03927.hp1 HG00140.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0091 a0001c0004t0030g0153 a0001c0004t0030g0091 a0001c0004t0030g0153	2	327	0.0061	-32	c.20 others(43): Show c.2010_*2041delCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	2010	INFO_REALIGN_3_PRIME	chr16	TogoVar
SCAF11_chr12_45914131_45995574	45972897	TATATATA others(25): Show TATATATATATAGATATATATATAGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG03130.hp1 others(1): Show HG01891.hp2 HG02818.hp2 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 others(1): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171	4	308	0.0130	-32	c.-21 others(49): Show c.-21-8741_-21-8710delCTATATATCTATATATATATCTATATAT ATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF8_chr6_154728416_154839221	154821239	CCTGTTGG others(25): Show CCTGTTGGTAGCCTGTTCTGTAAATAAAGTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp1 HG01256.hp2 others(3): Show HG00099.hp2 HG01074.hp1 HG01256.hp2 HG01496.hp1 NA18951.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0001g0157 a0001c0001t0001g0159 others(3): Show a0001c0001t0001g0098 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0196 a0001c0001t0002g0018	6	280	0.0214	-32	c.179 others(49): Show c.1792+939_1792+970delCTGTTGGTAGCCTGTTCTGTAAATAAAG TTTT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAMP2_chr15_74838730_74878365	74865950	CGAAGGAA others(25): Show CGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG02523.hp2 HG00738.hp2 HG00741.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0020 a0001c0001t0012 a0001c0001t0020	a0001c0001t0012g0279 a0001c0001t0020g0333 a0001c0001t0020g0334 a0001c0001t0012g0279 a0001c0001t0020g0333 a0001c0001t0020g0334	3	48	0.0625	-32	c.57+ others(47): Show c.57+7217_57+7248delCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding	1/8			chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874653	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	356	0.0028	-32	c.-14 others(43): Show c.-1430_-1399delATATATATATATATATATATATATTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1289		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74995517	GGCGCGCG others(25): Show GGCGCGCGCAGAGACGGCCTCGGGCGCGCGCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	280	0.0036	-32	c.-20 others(41): Show c.-204_-173delGCGCGCGCAGAGACGGCCTCGGGCGCGCGCGC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		45		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76637740	ATATGTGT others(25): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG02976.hp1 HG02145.hp1 HG02630.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0187 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0187	3	301	0.0100	-32	c.264 others(53): Show c.2646-15943_2646-15912delCACACACACACACACACACACACA CACACATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCARA3_chr8_27628902_27678018	27631404	TTAAATAA others(25): Show TTAAATAAGTTAGCATACAGGTAACCTCCAAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(64): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00733.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG03017.hp2 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18960.hp2 NA18963.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18992.hp2 NA19002.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19057.hp1 NA19062.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0021 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040	a0001c0001t0001g0109 a0001c0001t0001g0300 a0001c0001t0003g0008 others(58): Show a0001c0001t0001g0109 a0001c0001t0001g0300 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0134 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0160 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0338 a0001c0001t0003g0347 a0001c0001t0006g0234 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0143 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0161 a0001c0001t0007g0346 a0001c0001t0008g0005 a0001c0001t0008g0292 a0001c0001t0008g0307 a0001c0001t0008g0308 a0001c0001t0008g0310 a0001c0001t0008g0351 a0001c0001t0015g0030 a0001c0001t0015g0120 a0001c0001t0021g0008 a0001c0001t0021g0127 a0001c0001t0035g0148 a0001c0001t0037g0157 a0001c0001t0038g0163 a0001c0001t0040g0133	67	406	0.1650	-32	c.-27 others(43): Show c.-2796_-2765delTAAATAAGTTAGCATACAGGTAACCTCCAAGG	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding		2497		chr8	TogoVar
SCD5_chr4_82624539_82803796	82712243	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp2 HG01496.hp1 others(6): Show HG00642.hp1 HG01346.hp2 HG01496.hp1 HG01928.hp2 HG02055.hp2 HG02280.hp2 HG03098.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0089 a0001c0001t0001g0148 a0001c0001t0001g0167 others(6): Show a0001c0001t0001g0089 a0001c0001t0001g0148 a0001c0001t0001g0167 a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0097 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0011g0010	9	96	0.0938	-32	c.233 others(49): Show c.233-6862_233-6831delATATATATATATATATATATATATATAT ATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCG3_chr15_51676503_51726026	51709675	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	394	0.0025	-32	c.120 others(51): Show c.1208-3656_1208-3625delATATATATATATATATATATATATAT TTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32663032	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp1 HG02109.hp1 others(10): Show HG01081.hp1 HG01496.hp1 HG02109.hp1 HG02559.hp1 HG02630.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0038 a0001c0001t0001g0110 a0001c0001t0001g0111 others(9): Show a0001c0001t0001g0038 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0384 a0001c0001t0001g0390 a0001c0001t0004g0010 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0005g0383	13	127	0.1024	-32	c.227 others(51): Show c.227-16718_227-16687delTATATATATATATATATATATATATA TATATA	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	191830	ACCCTAAC others(25): Show ACCCTAACCCTAACCCTAACCCTAACCCCTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(171): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG03041.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0002c0001t0002	a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0013 others(10): Show a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0002g0001 a0001c0003t0001g0003 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0015 a0001c0005t0001g0004 a0001c0005t0001g0016 a0002c0001t0002g0001 a0002c0001t0002g0006	174	353	0.4929	-32	c.-12 others(43): Show c.-1269_-1238delCCCTAACCCTAACCCTAACCCTAACCCCTAAC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1247		chr11	TogoVar
SCHIP1_chr3_159268244_159902359	159626130	ATAGATAG others(25): Show ATAGATAGATATATCTAGATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	100	0.0100	-32	c.64- others(51): Show c.64-138306_64-138275delGATATATCTAGATATATATATATATC TAGATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159704876	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02145.hp2 HG02622.hp1 others(10): Show HG01978.hp1 HG02145.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02897.hp1 HG03098.hp1 HG03098.hp2 NA18747.hp2 NA19007.hp1 NA19058.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0002t0001g0022 a0001c0002t0001g0048 a0001c0002t0002g0047	13	100	0.1300	-32	c.64- others(49): Show c.64-59535_64-59504delATTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCML4_chr6_107697154_107829313	107778208	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	192	0.0052	-32	c.-59 others(49): Show c.-59-5854_-59-5823delATATATATATATATATATTTTTTTTTTT TTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN11A_chr3_38840764_39056944	38877424	ATATATAT others(25): Show ATATATATGGTGTATATACTATATATATGGTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02071.hp2 HG02602.hp2 others(6): Show HG00280.hp2 HG02071.hp2 HG02602.hp2 HG02738.hp1 NA18957.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0162 a0001c0002t0001g0164 others(6): Show a0001c0002t0001g0155 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0180 a0001c0002t0001g0183 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0194	9	306	0.0294	-32	c.339 others(51): Show c.3393+2494_3393+2525delATACCATATATATAGTATATACACCA TATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877455	ATATATAT others(25): Show ATATATATGGTGTATATACTATATATATGGTAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	282	0.0035	-32	c.339 others(51): Show c.3393+2463_3393+2494delATACCATATATATAGTATATACACCA TATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291345	GTCGTTCG others(25): Show GTCGTTCGTTCCTTCCTTCCTTCCTTCCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03453.hp1 NA18906.hp2 HG02897.hp2 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0201	3	258	0.0116	-32	c.-51 others(49): Show c.-51-4425_-51-4394delGTTCGTTCCTTCCTTCCTTCCTTCCTTC CTTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN5A_chr3_38543062_38654687	38555077	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0006 a0006	a0006c0067 a0006c0067	a0006c0067t0027 a0006c0067t0027	a0006c0067t0027g0278 a0006c0067t0027g0278	1	338	0.0030	-32	c.454 others(49): Show c.4542+547_4543-529delAAAATATATATATATATATATATATATA TATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414894	ATATTATT others(25): Show ATATTATTATATAGGATAATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0028 a0005c0005t0001g0028	1	217	0.0046	-32	c.341 others(51): Show c.3414+1781_3415-1774delATATATATTATATATTATCCTATATA ATAATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414923	ATATTATT others(25): Show ATATTATTATATAGGATAATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0019 a0019	a0019c0029 a0019c0029	a0019c0029t0001 a0019c0029t0001	a0019c0029t0001g0203 a0019c0029t0001g0203	1	306	0.0033	-32	c.341 others(51): Show c.3414+1752_3414+1783delATATATATTATATATTATCCTATATA ATAATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar

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