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
STK38L_chr12_27239286_27330959	27241099	TTATATAT others(16): Show TTATATATATTACATATATGACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG00673.hp2 HG02896.hp1 HG02897.hp2 HG04204.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011	a0001c0001t0003g0057 a0001c0001t0003g0077 a0001c0001t0004g0076 others(2): Show a0001c0001t0003g0057 a0001c0001t0003g0077 a0001c0001t0004g0076 a0001c0001t0011g0043 a0001c0001t0011g0049	5	374	0.0134	-23	c.-32 others(34): Show c.-3244_-3222delTATATATATTACATATATGACTC	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3186		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241130	TTATATAT others(16): Show TTATATATATTACATATATGACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG03453.hp2 NA18954.hp2 others(1): Show HG00642.hp2 HG03453.hp2 NA18954.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0099 a0001c0001t0004g0053 a0001c0001t0004g0054 others(1): Show a0001c0001t0002g0099 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0074	4	374	0.0107	-23	c.-32 others(34): Show c.-3213_-3191delTATATATATTACATATATGACTC	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3155		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241161	TTATATAT others(16): Show TTATATATATTACATATATGACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0043 a0001c0001t0011g0049 a0001c0001t0011g0043 a0001c0001t0011g0049	2	374	0.0054	-23	c.-31 others(34): Show c.-3182_-3160delTATATATATTACATATATGACTC	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3124		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241686	ATATATAT others(16): Show ATATATATTACATATATGACTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 NA18997.hp2 HG02300.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0165 a0001c0001t0001g0101 a0001c0001t0001g0165	2	374	0.0054	-23	c.-26 others(34): Show c.-2657_-2635delTATATATTACATATATGACTATG	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2599		chr12	TogoVar
STK39_chr2_167949022_168252595	168242557	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02622.hp2 HG01168.hp2 HG02622.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0128 a0001c0006t0011g0129 a0001c0006t0011g0128 a0001c0006t0011g0129	2	270	0.0074	-23	c.208 others(40): Show c.208+4648_208+4670delATATATATATATATATATATTTT	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/17			chr2	TogoVar
STK4_chr20_44961512_45085021	45045945	TACAGGTG others(16): Show TACAGGTGCATGCCACCATGCCTG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02027.hp1 HG02698.hp1 others(8): Show HG01081.hp1 HG02027.hp1 HG02698.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 a0001c0001t0034 a0001c0001t0035	a0001c0001t0001g0051 a0001c0001t0012g0044 a0001c0001t0012g0046 others(8): Show a0001c0001t0001g0051 a0001c0001t0012g0044 a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0001t0012g0048 a0001c0001t0012g0053 a0001c0001t0012g0086 a0001c0001t0018g0049 a0001c0001t0018g0050 a0001c0001t0034g0052 a0001c0001t0035g0045	11	328	0.0335	-23	c.130 others(44): Show c.1305+20816_1305+20838delACAGGTGCATGCCACCATGCCTG	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	10/10			chr20	TogoVar
STON1_chr2_48525154_48603513	48564484	TTCTTCTT others(16): Show TTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	376	0.0027	-23	c.-47 others(42): Show c.-47-16101_-47-16079delCTTCTTCTTCTTCTTCTTCTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STOX1_chr10_68822531_68898060	68822790	GGTCCATT others(16): Show GGTCCATTTTACAGAGAGCTGATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02738.hp1 HG03209.hp1 others(4): Show HG01109.hp2 HG02738.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 NA18906.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0003 a0003c0002 others(1): Show a0001c0001 a0002c0003 a0003c0002 a0006c0008	a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 a0006c0008t0001	a0001c0001t0001g0006 a0002c0003t0001g0032 a0003c0002t0001g0020 others(4): Show a0001c0001t0001g0006 a0002c0003t0001g0032 a0003c0002t0001g0020 a0003c0002t0001g0022 a0003c0002t0001g0023 a0003c0002t0001g0044 a0006c0008t0001g0021	7	312	0.0224	-23	c.-48 others(34): Show c.-4833_-4811delGTCCATTTTACAGAGAGCTGATT	STOX1	ENSG00000165730.16	transcript	ENST00000298596.11	protein_coding		4740		chr10	TogoVar
STOX1_chr10_68822531_68898060	68827547	CCCGCCGA others(16): Show CCCGCCGAGCGAGCGGCGTCGTAG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0088 a0002c0003t0008g0088	1	312	0.0032	-23	c.-70 others(30): Show c.-70_-48delAGCGAGCGGCGTCGTAGCCGCCG	STOX1	ENSG00000165730.16	transcript	ENST00000298596.11	protein_coding	1/4	48	INFO_REALIGN_3_PRIME	chr10	TogoVar
STPG2_chr4_97553872_98148476	98082433	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG02135.hp1 others(6): Show HG00735.hp1 HG01070.hp1 HG02135.hp1 HG02965.hp2 HG03516.hp1 HG03942.hp1 NA18966.hp1 NA18989.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0004 a0004c0005 a0002c0003 a0003c0004 a0004c0005	a0002c0003t0002 a0003c0004t0001 a0004c0005t0002 a0002c0003t0002 a0003c0004t0001 a0004c0005t0002	a0002c0003t0002g0052 a0002c0003t0002g0066 a0002c0003t0002g0083 others(6): Show a0002c0003t0002g0052 a0002c0003t0002g0066 a0002c0003t0002g0083 a0003c0004t0001g0101 a0004c0005t0002g0033 a0004c0005t0002g0045 a0004c0005t0002g0047 a0004c0005t0002g0062 a0004c0005t0002g0064	9	266	0.0338	-23	c.612 others(42): Show c.612+23497_612+23519delAAAAAAAAAAAAAAAAAAAAAAA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10			chr4	TogoVar
STPG3_chr9_137246286_137258483	137256839	CTGAAGCT others(16): Show CTGAAGCTGGTTATGGCTGACAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-23	c.35 others(34): Show c.3595_*3617delTGAAGCTGGTTATGGCTGACAAG	STPG3	ENSG00000197768.11	transcript	ENST00000412566.6	protein_coding		3357		chr9	TogoVar
STRN3_chr14_30888804_31031379	30893127	ATTACAAA others(16): Show ATTACAAACGGCAAAAACCACAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01981.hp2 HG02572.hp1 others(4): Show HG01433.hp1 HG01981.hp2 HG02572.hp1 HG03098.hp1 HG03209.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0006 a0001c0004t0007 a0001c0001t0007 a0001c0004t0006 a0001c0004t0007	a0001c0001t0007g0231 a0001c0001t0007g0232 a0001c0001t0007g0233 others(4): Show a0001c0001t0007g0231 a0001c0001t0007g0232 a0001c0001t0007g0233 a0001c0001t0007g0235 a0001c0004t0006g0075 a0001c0004t0006g0087 a0001c0004t0007g0083	7	364	0.0192	-23	c.22 others(34): Show c.2261_*2283delATTGTGGTTTTTGCCGTTTGTAA	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding		676		chr14	TogoVar
STRN3_chr14_30888804_31031379	30902171	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03486.hp2 HG02895.hp2 HG03486.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0205 a0001c0010t0002g0206 a0001c0010t0002g0205 a0001c0010t0002g0206	2	364	0.0055	-23	c.213 others(40): Show c.2137+342_2137+364delTTTTTTTTTTTTTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	16/17			chr14	TogoVar
STX11_chr6_144145517_144196939	144193846	CTCTTTTT others(16): Show CTCTTTTTCTTTCTTTCTTTTATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG02055.hp1 others(17): Show HG01106.hp1 HG01433.hp1 HG02055.hp1 HG02145.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 NA18906.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0068 a0001c0001t0070 a0004c0007t0030	a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0268 others(16): Show a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0268 a0001c0001t0002g0032 a0001c0001t0003g0083 a0001c0001t0003g0255 a0001c0001t0008g0262 a0001c0001t0008g0264 a0001c0001t0008g0265 a0001c0001t0008g0277 a0001c0001t0015g0064 a0001c0001t0015g0245 a0001c0001t0018g0073 a0001c0001t0018g0074 a0001c0001t0020g0016 a0001c0001t0020g0075 a0001c0001t0068g0058 a0001c0001t0070g0076 a0004c0007t0030g0061	20	378	0.0529	-23	c.63 others(34): Show c.6356_*6378delTCTTTTTCTTTCTTTCTTTTATT	STX11	ENSG00000135604.11	transcript	ENST00000367568.5	protein_coding		1908		chr6	TogoVar
STX1B_chr16_30984256_31015638	30989432	AAATGGGA others(16): Show AAATGGGACTCTGAGGGCTAACAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0119 a0001c0001t0054g0119	1	282	0.0036	-23	c.33 others(34): Show c.3366_*3388delCTGTTAGCCCTCAGAGTCCCATT	STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding	10/10	3366		chr16	TogoVar
STX1B_chr16_30984256_31015638	31013390	TTTTCTTC others(16): Show TTTTCTTCTTCTTCTTCCTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00735.hp2 others(6): Show HG00544.hp1 HG00544.hp2 HG00735.hp2 HG01257.hp1 HG01258.hp2 HG03239.hp2 NA18747.hp2 NA18939.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0108 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0146	9	282	0.0319	-23	c.-30 others(34): Show c.-3017_-2995delGGAAGAGGAAGAAGAAGAAGAAA	STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding		2753		chr16	TogoVar
STX6_chr1_180967725_181027870	181023095	CCTCTCTC others(16): Show CCTCTCTCTCCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01081.hp1 HG02027.hp1 others(4): Show HG00408.hp2 HG01081.hp1 HG02027.hp1 HG02080.hp2 HG04199.hp2 NA18952.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0210 a0001c0002t0002g0216 others(4): Show a0001c0002t0002g0015 a0001c0002t0002g0210 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0235 a0001c0002t0002g0237 a0001c0002t0002g0264	7	350	0.0200	-23	c.-44 others(32): Show c.-445_-423delAGAGAGAGAGAGAGGAGAGAGAG	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		226		chr1	TogoVar
STX8_chr17_9245471_9580820	9479805	GCCTCCTG others(16): Show GCCTCCTGCCAGCTCTCCTGGCCC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02258.hp1 others(6): Show HG01243.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG03098.hp2 HG03225.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0126 a0001c0002t0001g0010 a0001c0002t0001g0051 others(6): Show a0001c0001t0001g0126 a0001c0002t0001g0010 a0001c0002t0001g0051 a0001c0003t0001g0004 a0001c0003t0001g0032 a0001c0003t0001g0039 a0001c0003t0001g0041 a0001c0003t0001g0050 a0001c0003t0002g0005	9	188	0.0479	-23	c.541 others(42): Show c.541+12001_541+12023delGGGCCAGGAGAGCTGGCAGGAGG	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9518293	TCTTACCA others(16): Show TCTTACCAGACCCCTCCTCCAGGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02630.hp2 others(9): Show HG02145.hp2 HG02615.hp2 HG02630.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0008t0002 a0001c0010t0001	a0001c0002t0001g0007 a0001c0002t0001g0070 a0001c0002t0002g0002 others(9): Show a0001c0002t0001g0007 a0001c0002t0001g0070 a0001c0002t0002g0002 a0001c0002t0002g0063 a0001c0003t0001g0001 a0001c0003t0001g0032 a0001c0004t0001g0095 a0001c0004t0001g0122 a0001c0005t0001g0182 a0001c0005t0001g0184 a0001c0008t0002g0187 a0001c0010t0001g0092	12	188	0.0638	-23	c.324 others(42): Show c.324-13154_324-13132delGCCTGGAGGAGGGGTCTGGTAAG	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STXBP5L_chr3_120903205_121429761	121379091	GCCTCTGC others(16): Show GCCTCTGCTTATAGGTAACTACCC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0209 a0001c0001t0021g0209	1	290	0.0035	-23	c.234 others(40): Show c.2347+210_2347+232delTGCTTATAGGTAACTACCCCCTC	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147372406	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01515.hp1 HG02055.hp1 others(16): Show HG01256.hp1 HG01515.hp1 HG02055.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02809.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA19030.hp1 NA19063.hp1 NA19068.hp1 NA19075.hp1 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0038 a0001c0007t0019 a0002c0002t0002 a0002c0002t0014 a0002c0002t0020	a0001c0001t0001g0012 a0001c0001t0003g0339 a0001c0001t0003g0340 others(16): Show a0001c0001t0001g0012 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0010g0323 a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0262 a0001c0001t0011g0263 a0001c0001t0012g0035 a0001c0001t0012g0342 a0001c0001t0012g0343 a0001c0001t0012g0346 a0001c0001t0038g0334 a0001c0007t0019g0310 a0002c0002t0002g0032 a0002c0002t0002g0079 a0002c0002t0014g0019 a0002c0002t0020g0072 a0002c0002t0020g0146	19	350	0.0543	-23	c.308 others(42): Show c.3082-1324_3082-1302delCTTTTTTTTTTTTTTTTTTTTTT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	25/27			chr6	TogoVar
STXBP6_chr14_24804454_25055147	24807451	ATTCCAGA others(16): Show ATTCCAGATGAGGCTCAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp1 others(104): Show HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18961.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA19001.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(55): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0076 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0098 a0001c0001t0099 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0114 a0001c0001t0115	a0001c0001t0007g0010 a0001c0001t0007g0017 a0001c0001t0007g0064 others(104): Show a0001c0001t0007g0010 a0001c0001t0007g0017 a0001c0001t0007g0064 a0001c0001t0007g0088 a0001c0001t0007g0139 a0001c0001t0007g0150 a0001c0001t0008g0206 a0001c0001t0008g0210 a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0222 a0001c0001t0008g0229 a0001c0001t0009g0036 a0001c0001t0009g0068 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0009g0104 a0001c0001t0010g0035 a0001c0001t0010g0043 a0001c0001t0010g0046 a0001c0001t0010g0096 a0001c0001t0010g0127 a0001c0001t0014g0033 a0001c0001t0014g0058 a0001c0001t0014g0066 a0001c0001t0014g0076 a0001c0001t0015g0107 a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0114 a0001c0001t0016g0039 a0001c0001t0016g0071 a0001c0001t0016g0084 a0001c0001t0016g0097 a0001c0001t0017g0034 a0001c0001t0017g0085 a0001c0001t0017g0095 a0001c0001t0017g0142 a0001c0001t0018g0012 a0001c0001t0018g0013 a0001c0001t0018g0016 a0001c0001t0018g0151 a0001c0001t0019g0094 a0001c0001t0019g0121 a0001c0001t0019g0122 a0001c0001t0020g0059 a0001c0001t0020g0135 a0001c0001t0020g0137 a0001c0001t0023g0199 a0001c0001t0023g0212 a0001c0001t0023g0241 a0001c0001t0025g0003 a0001c0001t0025g0136 a0001c0001t0026g0030 a0001c0001t0026g0149 a0001c0001t0027g0037 a0001c0001t0027g0060 a0001c0001t0028g0062 a0001c0001t0028g0148 a0001c0001t0032g0161 a0001c0001t0032g0165 a0001c0001t0033g0156 a0001c0001t0033g0174 a0001c0001t0034g0152 a0001c0001t0034g0153 a0001c0001t0039g0178 a0001c0001t0040g0179 a0001c0001t0040g0181 a0001c0001t0042g0192 a0001c0001t0042g0239 a0001c0001t0043g0214 a0001c0001t0043g0223 a0001c0001t0053g0080 a0001c0001t0054g0014 a0001c0001t0055g0028 a0001c0001t0056g0011 a0001c0001t0057g0023 a0001c0001t0058g0065 a0001c0001t0059g0051 a0001c0001t0060g0052 a0001c0001t0062g0101 a0001c0001t0063g0144 a0001c0001t0064g0145 a0001c0001t0065g0143 a0001c0001t0067g0072 a0001c0001t0076g0140 a0001c0001t0079g0159 a0001c0001t0080g0168 a0001c0001t0081g0169 a0001c0001t0082g0177 a0001c0001t0083g0187 a0001c0001t0090g0184 a0001c0001t0091g0189 a0001c0001t0093g0173 a0001c0001t0094g0180 a0001c0001t0098g0231 a0001c0001t0099g0208 a0001c0001t0101g0205 a0001c0001t0102g0207 a0001c0001t0103g0228 a0001c0001t0104g0196 a0001c0001t0105g0240 a0001c0001t0106g0235 a0001c0001t0107g0219 a0001c0001t0108g0220 a0001c0001t0114g0232 a0001c0001t0115g0230	107	242	0.4422	-23	c.52 others(34): Show c.5235_*5257delCCTTCCTTGAGCCTCATCTGGAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding		2002		chr14	TogoVar
STYXL1_chr7_75991342_76053000	76005836	GGAGGAGG others(16): Show GGAGGAGGAAGAGAGAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(187): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0002 a0001c0003 a0001c0005 others(4): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0003c0006 a0005c0008 a0006c0009	a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 others(8): Show a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0005t0002 a0001c0010t0002 a0003c0006t0002 a0005c0008t0001 a0006c0009t0002	a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 others(187): Show a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0142 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0006g0161 a0001c0002t0006g0162 a0001c0003t0001g0164 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0333 a0001c0003t0001g0347 a0001c0003t0001g0348 a0001c0003t0002g0159 a0001c0003t0005g0351 a0001c0003t0005g0352 a0001c0003t0005g0353 a0001c0003t0005g0354 a0001c0003t0005g0355 a0001c0003t0007g0002 a0001c0005t0002g0105 a0001c0005t0002g0131 a0001c0005t0002g0133 a0001c0005t0002g0140 a0001c0005t0002g0143 a0001c0005t0002g0144 a0001c0005t0002g0145 a0001c0005t0002g0146 a0001c0005t0002g0147 a0001c0010t0002g0071 a0003c0006t0002g0037 a0003c0006t0002g0077 a0003c0006t0002g0078 a0005c0008t0001g0289 a0006c0009t0002g0141	190	356	0.5337	-23	c.454 others(38): Show c.454-455_454-433delTCTCCTCCTCTCTCTTCCTCCTC	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	5/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046316	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0171 a0001c0003t0001g0171	1	356	0.0028	-23	c.-5+ others(38): Show c.-5+1323_-5+1345delACACACACACACACACACACACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
SULF2_chr20_47652406_47790481	47745389	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0355 a0001c0001t0003g0355	1	364	0.0028	-23	c.176 others(40): Show c.176-8470_176-8448delATTTTTTTTTTTTTTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745391	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0056 a0001c0001t0010g0056	1	364	0.0028	-23	c.176 others(40): Show c.176-8472_176-8450delATATTTTTTTTTTTTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745393	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03516.hp2 NA18963.hp1 HG01243.hp1 HG03516.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0002t0015 a0001c0001t0001 a0001c0001t0018 a0001c0002t0015	a0001c0001t0001g0212 a0001c0001t0018g0263 a0001c0002t0015g0096 a0001c0001t0001g0212 a0001c0001t0018g0263 a0001c0002t0015g0096	3	364	0.0082	-23	c.176 others(40): Show c.176-8474_176-8452delATATATTTTTTTTTTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745395	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	364	0.0028	-23	c.176 others(40): Show c.176-8476_176-8454delATATATATTTTTTTTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745397	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0350 a0001c0001t0003g0350	1	364	0.0028	-23	c.176 others(40): Show c.176-8478_176-8456delATATATATATTTTTTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULT1B1_chr4_69716167_69765620	69765537	TATACATA others(16): Show TATACATATTGAGCTTTCATTAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0124 a0001c0001t0096g0124	1	408	0.0025	-23	c.-51 others(34): Show c.-5146_-5124delTTTAATGAAAGCTCAATATGTAT	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		4918		chr4	TogoVar
SULT2B1_chr19_48547172_48604423	48602705	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02723.hp1 others(2): Show HG02280.hp2 HG02647.hp2 HG02723.hp1 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0001t0001 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0017 a0001c0004t0001g0371 a0001c0007t0001g0161 others(2): Show a0001c0001t0001g0017 a0001c0004t0001g0371 a0001c0007t0001g0161 a0001c0007t0001g0356 a0001c0007t0001g0357	5	376	0.0133	-23	c.33 others(34): Show c.3300_*3322delTATATATATATATATATATATAT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding		3283		chr19	TogoVar
SUMF1_chr3_4356146_4472269	4424590	TAACTTAA others(16): Show TAACTTAAAATTACAAAATAACCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(287): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0008	a0001c0001 a0001c0002 a0001c0010 others(6): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0002c0004 a0003c0005 a0004c0007 a0006c0009 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0015 a0001c0010t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0016 a0002c0004t0001 a0003c0005t0005 a0004c0007t0001 a0006c0009t0004 a0008c0012t0004	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 others(278): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0305 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0046 a0001c0001t0002g0069 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0110 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0137 a0001c0001t0002g0150 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0308 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0335 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0002g0344 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0366 a0001c0001t0002g0375 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0079 a0001c0001t0003g0083 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0138 a0001c0001t0003g0144 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0176 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0192 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0257 a0001c0001t0003g0268 a0001c0001t0003g0271 a0001c0001t0003g0274 a0001c0001t0003g0314 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0329 a0001c0001t0003g0334 a0001c0001t0003g0365 a0001c0001t0004g0002 a0001c0001t0004g0052 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0100 a0001c0001t0004g0112 a0001c0001t0004g0126 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0210 a0001c0001t0004g0218 a0001c0001t0004g0241 a0001c0001t0004g0244 a0001c0001t0004g0251 a0001c0001t0004g0269 a0001c0001t0004g0278 a0001c0001t0004g0292 a0001c0001t0004g0294 a0001c0001t0004g0304 a0001c0001t0004g0312 a0001c0001t0004g0324 a0001c0001t0004g0328 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0343 a0001c0001t0004g0347 a0001c0001t0004g0374 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0049 a0001c0001t0005g0074 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0120 a0001c0001t0005g0136 a0001c0001t0005g0236 a0001c0001t0005g0302 a0001c0001t0005g0363 a0001c0001t0006g0132 a0001c0001t0006g0234 a0001c0001t0007g0061 a0001c0001t0007g0064 a0001c0001t0007g0299 a0001c0001t0008g0078 a0001c0001t0008g0221 a0001c0001t0008g0272 a0001c0001t0008g0313 a0001c0001t0010g0321 a0001c0001t0011g0378 a0001c0001t0011g0379 a0001c0001t0012g0104 a0001c0001t0012g0362 a0001c0001t0013g0242 a0001c0001t0017g0298 a0001c0001t0019g0101 a0001c0001t0020g0249 a0001c0001t0021g0289 a0001c0002t0001g0007 a0001c0002t0001g0068 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0089 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0187 a0001c0002t0001g0195 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0208 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0216 a0001c0002t0001g0219 a0001c0002t0001g0225 a0001c0002t0001g0228 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0267 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0317 a0001c0002t0001g0333 a0001c0002t0001g0336 a0001c0002t0001g0341 a0001c0002t0001g0345 a0001c0002t0001g0349 a0001c0002t0001g0355 a0001c0002t0001g0356 a0001c0002t0001g0361 a0001c0002t0015g0131 a0001c0010t0001g0264 a0002c0003t0001g0034 a0002c0003t0004g0020 a0002c0003t0016g0035 a0002c0004t0001g0039 a0003c0005t0005g0013 a0004c0007t0001g0019 a0006c0009t0004g0121 a0008c0012t0004g0377	290	392	0.7398	-23	c.520 others(40): Show c.520-4467_520-4445delGGGTTATTTTGTAATTTTAAGTT	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	3/8			chr3	TogoVar
SUN1_chr7_827476_879934	837437	TCAATTTT others(16): Show TCAATTTTTTTCAATCTTTTGATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0034 a0002c0002t0009g0034	1	418	0.0024	-23	c.78- others(38): Show c.78-1357_78-1335delTTTTTTTCAATCTTTTGATACAA	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN5_chr20_32978775_33009433	32996378	GTAAGGGG others(16): Show GTAAGGGGTCTCCTTCAGATGGCT	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	382	0.0026	-23	c.391 others(36): Show c.391-43_391-21delAGCCATCTGAAGGAGACCCCTTA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	6/12			chr20	TogoVar
SUPT3H_chr6_44821726_45382934	44956480	AAAATAAA others(16): Show AAAATAAAAAAAAAAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01243.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0016 a0001c0001t0003 a0001c0002t0016	a0001c0001t0003g0166 a0001c0002t0016g0104 a0001c0001t0003g0166 a0001c0002t0016g0104	2	262	0.0076	-23	c.581 others(40): Show c.581-1896_581-1874delATTTTTATTTTTTTTTTTTATTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	7/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45108843	AAAAAACT others(16): Show AAAAAACTAAAACTATAAAAGTAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	262	0.0038	-23	c.102 others(40): Show c.102-2860_102-2838delATACTTTTATAGTTTTAGTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45128522	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	262	0.0038	-23	c.102 others(42): Show c.102-22539_102-22517delATATATATATATTTTTTTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUSD6_chr14_69606596_69720144	69623974	ATATGTAG others(16): Show ATATGTAGCCTAAGTGTACAGTGT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0263 a0001c0001t0009g0263	1	288	0.0035	-23	c.-81 others(42): Show c.-81+12148_-81+12170delATGTAGCCTAAGTGTACAGTGTT	SUSD6	ENSG00000100647.8	transcript	ENST00000342745.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SV2C_chr5_76078383_76338956	76320573	CAAAAACA others(16): Show CAAAAACATCTATTCATATTTCTA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19030.hp1 HG00735.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0135 a0001c0001t0048 a0001c0001t0135	a0001c0001t0048g0047 a0001c0001t0135g0198 a0001c0001t0048g0047 a0001c0001t0135g0198	2	234	0.0086	-23	c.200 others(42): Show c.2001-4783_2001-4761delTCTATTCATATTTCTAAAAAACA	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110376268	GAGCCAGA others(16): Show GAGCCAGACCAGCTAAGGCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00738.hp2 others(9): Show HG00099.hp2 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01993.hp1 HG02698.hp1 HG02818.hp2 HG03239.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2	a0005 a0007 a0013 others(2): Show a0005 a0007 a0013 a0064 a0101	a0005c0005 a0005c0060 a0007c0019 others(4): Show a0005c0005 a0005c0060 a0007c0019 a0007c0035 a0013c0041 a0064c0066 a0101c0121	a0005c0005t0003 a0005c0060t0010 a0007c0019t0003 others(4): Show a0005c0005t0003 a0005c0060t0010 a0007c0019t0003 a0007c0035t0001 a0013c0041t0003 a0064c0066t0003 a0101c0121t0003	a0005c0005t0003g0059 a0005c0005t0003g0272 a0005c0005t0003g0341 others(9): Show a0005c0005t0003g0059 a0005c0005t0003g0272 a0005c0005t0003g0341 a0005c0060t0010g0018 a0007c0019t0003g0050 a0007c0035t0001g0109 a0007c0035t0001g0110 a0007c0035t0001g0340 a0013c0041t0003g0025 a0013c0041t0003g0026 a0064c0066t0003g0044 a0101c0121t0003g0202	12	362	0.0332	-23	c.105 others(42): Show c.10505-828_10505-806delTGGCTGCCTTAGCTGGTCTGGCT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	45/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110387935	CATTTAAA others(16): Show CATTTAAATTATTTTTCATCTGAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02572.hp2 others(7): Show HG01109.hp2 HG02258.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG06807.hp2	a0030 a0032 a0045 others(3): Show a0030 a0032 a0045 a0049 a0071 a0100	a0030c0055 a0032c0034 a0045c0049 others(3): Show a0030c0055 a0032c0034 a0045c0049 a0049c0054 a0071c0084 a0100c0118	a0030c0055t0001 a0032c0034t0001 a0032c0034t0005 others(6): Show a0030c0055t0001 a0032c0034t0001 a0032c0034t0005 a0045c0049t0002 a0045c0049t0004 a0049c0054t0001 a0049c0054t0004 a0071c0084t0005 a0100c0118t0004	a0030c0055t0001g0080 a0032c0034t0001g0085 a0032c0034t0005g0082 others(7): Show a0030c0055t0001g0080 a0032c0034t0001g0085 a0032c0034t0005g0082 a0032c0034t0005g0120 a0045c0049t0002g0094 a0045c0049t0004g0075 a0049c0054t0001g0095 a0049c0054t0004g0096 a0071c0084t0005g0073 a0100c0118t0004g0071	10	362	0.0276	-23	c.988 others(40): Show c.9887-500_9887-478delTTCAGATGAAAAATAATTTAAAT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	41/47			chr9	TogoVar
SVIL_chr10_29452338_29639971	29506816	CAGGGAAG others(16): Show CAGGGAAGGGACAGAGGCCCTAGG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18980.hp2 HG00438.hp1 NA18980.hp2	a0002 a0006 a0002 a0006	a0002c0001 a0006c0083 a0002c0001 a0006c0083	a0002c0001t0002 a0006c0083t0002 a0002c0001t0002 a0006c0083t0002	a0002c0001t0002g0125 a0006c0083t0002g0113 a0002c0001t0002g0125 a0006c0083t0002g0113	2	290	0.0069	-23	c.351 others(42): Show c.3516+5896_3516+5918delCCTAGGGCCTCTGTCCCTTCCCT	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	17/37			chr10	TogoVar
SWAP70_chr11_9659077_9757993	9725549	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02451.hp1 others(5): Show HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG03225.hp1 HG03516.hp2 NA18522.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0001 a0001c0007 a0002c0001	a0001c0007t0002 a0002c0001t0001 a0002c0001t0005 a0001c0007t0002 a0002c0001t0001 a0002c0001t0005	a0001c0007t0002g0090 a0001c0007t0002g0091 a0001c0007t0002g0292 others(5): Show a0001c0007t0002g0090 a0001c0007t0002g0091 a0001c0007t0002g0292 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0042 a0002c0001t0001g0261 a0002c0001t0005g0087	8	294	0.0272	-23	c.642 others(38): Show c.642+666_642+688delATATATATATATATATATATTTT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9725551	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00609.hp1 others(40): Show HG00140.hp1 HG00423.hp2 HG00609.hp1 HG00733.hp2 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01515.hp1 HG02055.hp2 HG02071.hp1 HG02486.hp2 HG02647.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp1 HG03834.hp2 NA18522.hp2 NA18942.hp2 NA18946.hp1 NA18965.hp2 NA18966.hp1 NA18972.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18998.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19068.hp1 NA19078.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0001 a0002c0005 a0001c0008 a0002c0001 a0002c0005	a0001c0008t0009 a0001c0008t0035 a0002c0001t0001 others(6): Show a0001c0008t0009 a0001c0008t0035 a0002c0001t0001 a0002c0001t0005 a0002c0001t0006 a0002c0001t0012 a0002c0001t0021 a0002c0001t0024 a0002c0005t0001	a0001c0008t0009g0081 a0001c0008t0035g0058 a0002c0001t0001g0010 others(40): Show a0001c0008t0009g0081 a0001c0008t0035g0058 a0002c0001t0001g0010 a0002c0001t0001g0031 a0002c0001t0001g0041 a0002c0001t0001g0046 a0002c0001t0001g0059 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0073 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0080 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0127 a0002c0001t0005g0085 a0002c0001t0005g0086 a0002c0001t0005g0088 a0002c0001t0005g0089 a0002c0001t0005g0099 a0002c0001t0005g0251 a0002c0001t0006g0048 a0002c0001t0006g0049 a0002c0001t0006g0050 a0002c0001t0006g0051 a0002c0001t0006g0052 a0002c0001t0012g0055 a0002c0001t0012g0057 a0002c0001t0012g0060 a0002c0001t0021g0066 a0002c0001t0024g0072 a0002c0005t0001g0249 a0002c0005t0001g0250	43	294	0.1463	-23	c.642 others(38): Show c.642+668_642+690delATATATATATATATATATTTTTT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9725553	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp2 HG01891.hp1 others(5): Show HG00673.hp1 HG00741.hp2 HG01891.hp1 HG02683.hp1 HG02717.hp2 HG03017.hp1 HG03654.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0001 a0001c0008 a0002c0001	a0001c0008t0003 a0002c0001t0001 a0002c0001t0014 others(1): Show a0001c0008t0003 a0002c0001t0001 a0002c0001t0014 a0002c0001t0023	a0001c0008t0003g0056 a0002c0001t0001g0036 a0002c0001t0001g0054 others(5): Show a0001c0008t0003g0056 a0002c0001t0001g0036 a0002c0001t0001g0054 a0002c0001t0001g0061 a0002c0001t0001g0075 a0002c0001t0014g0238 a0002c0001t0014g0239 a0002c0001t0023g0053	8	294	0.0272	-23	c.642 others(38): Show c.642+670_642+692delATATATATATATATATTTTTTTT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9725555	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0032 a0002c0001t0001g0032	1	294	0.0034	-23	c.642 others(38): Show c.642+672_642+694delATATATATATATATTTTTTTTTT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWI5_chr9_128271276_128293989	128291978	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA19000.hp1 HG03139.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0105 a0001c0001t0001g0017 a0001c0001t0001g0105	2	386	0.0052	-23	c.32 others(34): Show c.3263_*3285delAAAAAAAAAAAAAAAAAAAAAAA	SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding		2990		chr9	TogoVar
SYCP2L_chr6_10882052_10979309	10888066	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02056.hp1 HG02129.hp2 others(3): Show HG02015.hp2 HG02056.hp1 HG02129.hp2 HG02895.hp1 NA18968.hp2 NA19011.hp1	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0005c0008 a0011c0017 a0001c0001 a0005c0008 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0005c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0005c0008t0001 a0011c0017t0002	a0001c0001t0001g0045 a0001c0001t0001g0283 a0001c0001t0002g0285 others(3): Show a0001c0001t0001g0045 a0001c0001t0001g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0005c0008t0001g0284 a0011c0017t0002g0282	6	354	0.0170	-23	c.9+9 others(34): Show c.9+957_9+979delTTTTTTTTTTTTTTTTTTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP2_chr20_59858571_59938637	59876369	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	276	0.0036	-23	c.315 others(40): Show c.3151-923_3151-901delTTTTTTTTTTTTTTTTTTTTTTT	SYCP2	ENSG00000196074.13	transcript	ENST00000357552.8	protein_coding	33/44			chr20	TogoVar
SYN3_chr22_32502820_33063381	33008941	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03195.hp1 HG03471.hp2 others(2): Show HG02280.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0009 a0001c0001t0010 a0001c0001t0053 others(2): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0053 a0001c0004t0035 a0002c0002t0011	a0001c0001t0009g0067 a0001c0001t0010g0087 a0001c0001t0053g0041 others(2): Show a0001c0001t0009g0067 a0001c0001t0010g0087 a0001c0001t0053g0041 a0001c0004t0035g0066 a0002c0002t0011g0061	5	184	0.0272	-23	c.-16 others(42): Show c.-162-2140_-162-2118delCTTTTTTTTTTTTTTTTTTTTTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	1/13			chr22	TogoVar

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