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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
REV3L_chr6_111294033_111488218	111303671	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTAACAGACTATGACTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	288	0.0035	-41	c.925 others(60): Show c.9253-3556_9253-3516delAAAAAAAAAAAGTCATAGTCTGTTAA AAAAAAAAAAAAAAA		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31						chr6	TogoVar
RFX2_chr19_5988164_6115500	6100843	TAATTAAT others(34): Show TAATTAATTGAATTATATTGATTTAATTGAATTAATTAATTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0012	1	308	0.0033	-41	c.-9+ others(56): Show c.-9+9509_-9+9549delCAATTAATTAATTCAATTAAATCAATATAA TTCAATTAATT		RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17						chr19	TogoVar
RFX3_chr9_3213297_3531001	3504154	TTATATAT others(34): Show TTATATATTATATATATTATATATTATACATATTATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01243.hp1 others(16): Show HG01099.hp2 HG01175.hp1 HG01243.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp1 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA18955.hp1 NA18999.hp2 NA19030.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0032 a0001c0001t0049 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0004t0048	a0001c0001t0001g0054 a0001c0001t0002g0017 a0001c0001t0002g0019 others(16): Show a0001c0001t0001g0054 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0162 a0001c0001t0005g0030 a0001c0001t0012g0081 a0001c0001t0012g0166 a0001c0001t0012g0167 a0001c0001t0018g0079 a0001c0001t0018g0080 a0001c0001t0032g0020 a0001c0001t0049g0016 a0001c0001t0058g0179 a0001c0001t0059g0018 a0001c0001t0060g0013 a0001c0001t0069g0189 a0001c0001t0070g0190 a0001c0001t0071g0191 a0001c0004t0048g0180	19	196	0.0969	-41	c.-9+ others(58): Show c.-9+21552_-9+21592delTAATATATAATATGTATAATATATAATA TATATAATATATA		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RGS11_chr16_263307_280944	269997	CCCAGCAC others(34): Show CCCAGCACTTTGGGAGGCTGATGCGGGTGGATCATGAGGTTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0002 a0010c0021t0002	a0010c0021t0002g0145 a0010c0021t0002g0145	1	456	0.0022	-41	c.120 others(58): Show c.1207-453_1207-413delCAACCTCATGATCCACCCGCATCAGCCT CCCAAAGTGCTGG		RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding	15/16						chr16	TogoVar
RGS14_chr5_177352924_177377596	177371062	GCGGGGCC others(34): Show GCGGGGCCGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02165.hp2 NA18612.hp2 others(14): Show HG00423.hp1 HG02165.hp2 NA18612.hp2 NA18944.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18962.hp2 NA18968.hp2 NA18977.hp2 NA18979.hp2 NA18984.hp2 NA18986.hp2 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0070 a0001c0001t0001g0148 a0001c0001t0001g0006 a0001c0001t0001g0070 a0001c0001t0001g0148	17	418	0.0407	-41	c.125 others(56): Show c.1254+42_1255-52delCCGGGGCCGGGGCCGGGGCCGGGGCCGGGG CCGGGGCCGGG		RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS17_chr6_152999459_153136282	153054049	ATGTATAT others(34): Show ATGTATATAATATATATACATATATATATACACACAATATTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG04228.hp2 HG02055.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0042 a0001c0001t0004g0008 a0001c0001t0004g0042	2	338	0.0059	-41	c.-25 others(60): Show c.-25-10047_-25-10007delAAATATTGTGTGTATATATATATGTA TATATATTATATACA		RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4						chr6	TogoVar
RGS3_chr9_113458727_113602738	113490824	TTATATCA others(34): Show TTATATCAGTATATATAATTATATATAACCTAATTATAATTA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01258.hp2 HG01099.hp1 HG01123.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0104 a0001c0002t0001g0035 a0001c0002t0001g0103 a0001c0001t0001g0104 a0001c0002t0001g0035 a0001c0002t0001g0103	3	168	0.0179	-41	c.354 others(58): Show c.354-4873_354-4833delAGTATATATAATTATATATAACCTAATT ATAATTATATATC		RGS3	ENSG00000138835.24	transcript	ENST00000695401.1	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr9	TogoVar
RHBDD2_chr7_75874034_75893926	75883712	TGCTATTC others(34): Show TGCTATTCCATCGACCTCTCAGAGCGAGTGGCACTGAAGCTC	T T	frameshift_variant frameshift_variant	HIGH	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0080 a0003c0006t0001g0080	1	394	0.0025	-41	c.603 others(48): Show c.603_643delCTATTCCATCGACCTCTCAGAGCGAGTGGCACTGAAGC TCG	p.Cys others(5): Show p.Cys201fs	RHBDD2	ENSG00000005486.17	transcript	ENST00000006777.11	protein_coding	3/4	652/1721	603/1095	201/364		INFO_REALIGN_3_PRIME	chr7	TogoVar
RHOC_chr1_112696131_112712127	112706430	TACACACA others(34): Show TACACACACACACACACACACACACACACACACACCACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03942.hp2 HG02630.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0129 a0001c0001t0005g0128 a0001c0001t0001g0129 a0001c0001t0005g0128	2	428	0.0047	-41	c.-77 others(56): Show c.-77+607_-77+647delGTGTGTGGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGT		RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5						chr1	TogoVar
RIMBP3B_chr22_21378751_21394478	21379157	AGTTTTGA others(34): Show AGTTTTGACCTGCTCCTTTTCGTTTTCCTTTTTCTTTCTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00741.hp1 others(25): Show HG00621.hp2 HG00639.hp1 HG00741.hp1 HG01071.hp2 HG01175.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02683.hp1 HG02818.hp1 HG03041.hp1 HG03471.hp2 HG03579.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 NA18966.hp2 NA18979.hp1 NA20905.hp1 NA20905.hp2	a0001 a0006 a0007 others(13): Show a0001 a0006 a0007 a0008 a0009 a0013 a0024 a0026 a0027 a0028 a0030 a0032 a0033 a0034 a0035 a0075	a0001c0002 a0001c0003 a0006c0005 others(15): Show a0001c0002 a0001c0003 a0006c0005 a0007c0068 a0007c0077 a0008c0009 a0009c0016 a0013c0010 a0024c0079 a0026c0083 a0027c0078 a0028c0076 a0030c0075 a0032c0081 a0033c0082 a0034c0071 a0035c0070 a0075c0012	a0001c0002t0004 a0001c0003t0004 a0006c0005t0004 others(15): Show a0001c0002t0004 a0001c0003t0004 a0006c0005t0004 a0007c0068t0005 a0007c0077t0004 a0008c0009t0001 a0009c0016t0001 a0013c0010t0004 a0024c0079t0001 a0026c0083t0005 a0027c0078t0004 a0028c0076t0007 a0030c0075t0001 a0032c0081t0002 a0033c0082t0002 a0034c0071t0011 a0035c0070t0001 a0075c0012t0013	a0001c0002t0004g0000 a0001c0003t0004g0000 a0006c0005t0004g0000 others(15): Show a0001c0002t0004g0000 a0001c0003t0004g0000 a0006c0005t0004g0000 a0007c0068t0005g0000 a0007c0077t0004g0000 a0008c0009t0001g0000 a0009c0016t0001g0000 a0013c0010t0004g0000 a0024c0079t0001g0000 a0026c0083t0005g0000 a0027c0078t0004g0000 a0028c0076t0007g0000 a0030c0075t0001g0000 a0032c0081t0002g0000 a0033c0082t0002g0000 a0034c0071t0011g0000 a0035c0070t0001g0000 a0075c0012t0013g0000	28	118	0.2373	-41	c.-47 others(52): Show c.-4701_-4661delGTTTTGACCTGCTCCTTTTCGTTTTCCTTTTTCT TTCTTTC		RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding					4593		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21392812	AGGAAGGA others(34): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0074 a0074	a0074c0015 a0074c0015	a0074c0015t0007 a0074c0015t0007	a0074c0015t0007g0000 a0074c0015t0007g0000	1	118	0.0085	-41	c.40 others(52): Show c.4035_*4075delGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAG		RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding					3335		chr22	TogoVar
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(34): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01993.hp1 HG02135.hp2 others(6): Show HG00408.hp2 HG01993.hp1 HG02135.hp2 HG02145.hp2 HG03098.hp2 NA18945.hp1 NA18959.hp1 NA18971.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0048 a0001c0001t0003g0049 others(5): Show a0001c0001t0003g0022 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0059 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0340	9	372	0.0242	-41	c.554 others(56): Show c.554+363_554+403delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF213_chr17_80255852_80403794	80269408	TATCCATC others(34): Show TATCCATCCATCCATCCATTCATCTATTCTATCTATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01099.hp1 HG02622.hp2 others(5): Show HG00733.hp1 HG01099.hp1 HG02622.hp2 HG02717.hp1 HG03225.hp2 HG04204.hp1 NA19086.hp2 NA20129.hp1	a0001 a0008 a0029 others(4): Show a0001 a0008 a0029 a0069 a0070 a0091 a0095	a0001c0001 a0008c0028 a0029c0024 others(4): Show a0001c0001 a0008c0028 a0029c0024 a0069c0065 a0070c0066 a0091c0113 a0095c0040	a0001c0001t0002 a0008c0028t0018 a0029c0024t0015 others(4): Show a0001c0001t0002 a0008c0028t0018 a0029c0024t0015 a0069c0065t0025 a0070c0066t0040 a0091c0113t0021 a0095c0040t0003	a0001c0001t0002g0195 a0008c0028t0018g0028 a0029c0024t0015g0059 others(5): Show a0001c0001t0002g0195 a0008c0028t0018g0028 a0029c0024t0015g0059 a0029c0024t0015g0060 a0069c0065t0025g0029 a0070c0066t0040g0030 a0091c0113t0021g0031 a0095c0040t0003g0196	8	292	0.0274	-41	c.98- others(56): Show c.98-3829_98-3789delCATCCATCCATCCATTCATCTATTCTATCT ATCCATCCATC		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	2/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF4_chr4_2464106_2520857	2467175	GGCGAAAG others(34): Show GGCGAAAGCCAGTGTCTACAAAAAAAAAATACAAAAAAATTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	378	0.0027	-41	c.-22 others(52): Show c.-2240_-2200delGCGAAAGCCAGTGTCTACAAAAAAAAAATACAAA AAAATTA		RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding					1930		chr4	TogoVar
RNH1_chr11_489515_512242	499638	CCCCAGCA others(34): Show CCCCAGCATCATGGGGAGAGGAGAGCACCACAAGGCCCCAGA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02280.hp1 others(7): Show HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0028 a0001c0005t0001g0139 a0001c0005t0001g0148 others(5): Show a0001c0005t0001g0028 a0001c0005t0001g0139 a0001c0005t0001g0148 a0001c0005t0001g0149 a0001c0005t0001g0150 a0001c0005t0001g0151 a0001c0005t0001g0152 a0001c0005t0001g0175	10	387	0.0258	-41	c.443 others(56): Show c.443+150_443+190delTCTGGGGCCTTGTGGTGCTCTCCTCTCCCC ATGATGCTGGG		RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding	5/10						chr11	TogoVar
RNH1_chr11_489515_512242	499655	GAGGAGAG others(34): Show GAGGAGAGCACCACAAGGCCCCAGACCCAGCATCATGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 HG03579.hp1 others(1): Show HG02622.hp1 HG03130.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0116 a0001c0005t0001g0054 a0001c0005t0001g0158 a0001c0001t0001g0116 a0001c0005t0001g0054 a0001c0005t0001g0158	4	387	0.0103	-41	c.443 others(56): Show c.443+133_443+173delTTCCCCATGATGCTGGGTCTGGGGCCTTGT GGTGCTCTCCT		RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding	5/10						chr11	TogoVar
ROBO1_chr3_78592239_79772998	78711347	CCTCCTTC others(34): Show CCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	44	0.0227	-41	c.104 others(60): Show c.1045+3009_1045+3049delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAG		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30						chr3	TogoVar
ROBO2_chr3_77035099_77654964	77248361	GCTGAGCT others(34): Show GCTGAGCTGTTAACACTGAAAAACTGTCACACTGACCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp2 HG02145.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0036 a0001c0003t0043 a0001c0001t0036 a0001c0003t0043	a0001c0001t0036g0058 a0001c0003t0043g0137 a0001c0001t0036g0058 a0001c0003t0043g0137	2	160	0.0125	-41	c.388 others(62): Show c.388+150062_388+150102delACTGAGCTGTTAACACTGAAAAAC TGTCACACTGACCCTCC		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
RORA_chr15_60483284_61234302	60597552	ATATATAT others(34): Show ATATATATATATATATATATATACACATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0007 a0002c0009t0007	a0002c0009t0007g0118 a0002c0009t0007g0118	1	118	0.0085	-41	c.197 others(60): Show c.197-65742_197-65702delATATATATATATATATGTGTATATAT ATATATATATATATA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10						chr15	TogoVar
RORA_chr15_60483284_61234302	60597554	ATATATAT others(34): Show ATATATATATATATATATATACACATATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG02004.hp2 HG00438.hp2 HG00639.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016	a0001c0001t0005g0049 a0001c0001t0006g0099 a0001c0001t0016g0050 a0001c0001t0005g0049 a0001c0001t0006g0099 a0001c0001t0016g0050	3	118	0.0254	-41	c.197 others(60): Show c.197-65744_197-65704delGTATATATATATATATATGTGTATAT ATATATATATATATA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10						chr15	TogoVar
RPA1_chr17_1825005_1905082	1862717	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTTTTGCTTTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG02630.hp2 others(4): Show HG01884.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02895.hp2 HG03130.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 others(1): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 a0001c0002t0022	a0001c0001t0006g0384 a0001c0001t0011g0378 a0001c0001t0011g0379 others(4): Show a0001c0001t0006g0384 a0001c0001t0011g0378 a0001c0001t0011g0379 a0001c0001t0011g0380 a0001c0001t0021g0376 a0001c0001t0021g0377 a0001c0002t0022g0007	7	402	0.0174	-41	c.361 others(58): Show c.361+9531_361+9571delTTTTTTTTTTTTTTTTTTTTGAGATGAA GTTTTGCTTTGTT		RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA4_chrX_96878908_96890467	96881065	ATATTGTT others(34): Show ATATTGTTTTACATTTTAATAACTGTTTTCACTTATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	319	0.0031	-41	c.-32 others(52): Show c.-3245_-3205delTATTGTTTTACATTTTAATAACTGTTTTCACTTA TTTTTTT		RPA4	ENSG00000204086.4	transcript	ENST00000373040.4	protein_coding					2842		chrX	TogoVar
RPS6KA4_chr11_64354162_64377215	64354799	AAGCCTCA others(34): Show AAGCCTCAGCCTCCCCCCCTCCTCTGACCCTCTCCCTGCATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	402	0.0025	-41	c.-44 others(52): Show c.-4436_-4396delAGCCTCAGCCTCCCCCCCTCCTCTGACCCTCTCC CTGCATG		RPS6KA4	ENSG00000162302.13	transcript	ENST00000334205.9	protein_coding					4362		chr11	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19005.hp1 NA19089.hp2 NA19001.hp1 NA19005.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0005g0194 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0005g0194	3	304	0.0099	-41	c.142 others(58): Show c.142-1317_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH10B2_chr7_6749103_6803765	6793914	TCCTTTGC others(34): Show TCCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATGCTCA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0052 a0001c0026t0002g0052	1	108	0.0093	-41	c.223 others(60): Show c.2233+2036_2233+2076delGCTCACCTTTGCTGCTAGGCATCTTG GGGGGCTGTGTACAT		RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	19/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B2_chr7_6749103_6803765	6794033	GCTCACCT others(34): Show GCTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp1 HG01884.hp1 others(4): Show HG00438.hp1 HG01071.hp1 HG01884.hp1 HG01891.hp1 HG02148.hp2 HG04115.hp2 NA18522.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0008 a0002c0005 others(4): Show a0001c0001 a0001c0008 a0002c0005 a0002c0025 a0003c0003 a0004c0004 a0004c0007	a0001c0001t0003 a0001c0008t0002 a0002c0005t0001 others(4): Show a0001c0001t0003 a0001c0008t0002 a0002c0005t0001 a0002c0025t0001 a0003c0003t0001 a0004c0004t0001 a0004c0007t0004	a0001c0001t0003g0101 a0001c0008t0002g0038 a0002c0005t0001g0015 others(4): Show a0001c0001t0003g0101 a0001c0008t0002g0038 a0002c0005t0001g0015 a0002c0025t0001g0108 a0003c0003t0001g0016 a0004c0004t0001g0001 a0004c0007t0004g0094	7	108	0.0648	-41	c.223 others(60): Show c.2233+2077_2233+2117delACTCACCTTTGCTGCTAGGCATCTTG GGGGGCTGTGTACAT		RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	19/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B2_chr7_6749103_6803765	6794142	GGGGCTGT others(34): Show GGGGCTGTGTACATGTACACCTTTGCTGCTAGGCATCTTGGT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0007 a0011c0016t0007	a0011c0016t0007g0100 a0011c0016t0007g0100	1	108	0.0093	-41	c.223 others(60): Show c.2233+2157_2233+2197delATGTACACCTTTGCTGCTAGGCATCT TGGTGGGCTGTGTAC		RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	19/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5930783	ACCTAGCA others(34): Show ACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0003 a0009c0016t0003	a0009c0016t0003g0068 a0009c0016t0003g0068	1	70	0.0143	-41	c.223 others(60): Show c.2233+1958_2233+1998delCATCTTGGGGGGCTGTGTACATGCTC ACCTTTGCTGCTAGG		RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20						chr7	TogoVar
RSPH1_chr21_42467486_42501224	42496204	GATCACAG others(34): Show GATCACAGCCGCAGCGCCTCTAGCAGGTGGGTAGCAACCGCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0034 a0001c0001t0011g0034	1	408	0.0025	-41	c.-59 others(48): Show c.-59_-19delGGCGGTTGCTACCCACCTGCTAGAGGCGCTGCGGCTGT GAT		RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	1/9				19		chr21	TogoVar
RTL6_chr22_44487583_44503233	44490146	GAGCACAG others(34): Show GAGCACAGCCTGGTTGCTCAGGGAGTGTCCTAAGTGGAGTAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	402	0.0025	-41	c.66 others(52): Show c.6650_*6690delTTACTCCACTTAGGACACTCCCTGAGCAACCAGG CTGTGCT		RTL6	ENSG00000188636.4	transcript	ENST00000341255.4	protein_coding					2436		chr22	TogoVar
RUNDC3B_chr7_87623398_87837296	87626362	ATATATGT others(34): Show ATATATGTGTCATATGTATGTGTCATATATATGTGTCATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0086 a0001c0001t0056g0086	1	202	0.0050	-41	c.-24 others(52): Show c.-2461_-2421delTATATGTGTCATATGTATGTGTCATATATATGTG TCATATG		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					2035		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626657	ATGTGTCA others(34): Show ATGTGTCATATATATGTGTCATATATATGTGTCATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0189 a0001c0001t0011g0189	1	202	0.0050	-41	c.-21 others(52): Show c.-2166_-2126delTGTGTCATATATATGTGTCATATATATGTGTCAT ATATATG		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					1740		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87810029	CCCTATAA others(34): Show CCCTATAATTCATTACAGTTTTAATGATAGTAGATGATTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0001 a0001c0001t0068g0001	1	202	0.0050	-41	c.110 others(60): Show c.1103+2514_1103+2554delATAATTCATTACAGTTTTAATGATAG TAGATGATTTTTCCT		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1_chr21_34782801_35054302	34849317	TATATATT others(34): Show TATATATTATATATACTATATATATTATATATAGTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG03239.hp2 others(1): Show HG00738.hp2 HG01109.hp2 HG03239.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0001g0064 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0014	4	170	0.0235	-41	c.613 others(60): Show c.613+10116_613+10156delTATATATACTATATATAATATATATA GTATATATAATATAT		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8						chr21	TogoVar
SAPCD2_chr9_137057127_137075557	137063499	CCCCGCAT others(34): Show CCCCGCATCGGCATCGGGGGCCCTGCGCCCCCCACGCACTGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0050 a0002c0002t0021g0050	1	414	0.0024	-41	c.11 others(52): Show c.1119_*1159delTCAGTGCGTGGGGGGCGCAGGGCCCCCGATGCCG ATGCGGG		SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding	6/6				1119		chr9	TogoVar
SARS2_chr19_38910266_38935763	38927819	AGTTAGGA others(34): Show AGTTAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0107	1	420	0.0024	-41	c.268 others(58): Show c.268-1560_268-1520delGGGTTTCACCATCTTGGCCAGGCTGGTC TCGAACTCCTAAC		SARS2	ENSG00000104835.15	transcript	ENST00000221431.11	protein_coding	1/15						chr19	TogoVar
SASH1_chr6_148337838_148557044	148387583	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0110 a0002c0002t0003g0110	1	322	0.0031	-41	c.157 others(58): Show c.157-2550_157-2510delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTC		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19						chr6	TogoVar
SASH1_chr6_148337838_148557044	148543137	CTGTCTGT others(34): Show CTGTCTGTGTCCAGGTTGGTTGATTGCTTCTAGGATAAACTT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0167 a0002c0002t0028g0167	1	322	0.0031	-41	c.221 others(58): Show c.2210-542_2210-502delTGTCTGTGTCCAGGTTGGTTGATTGCTT CTAGGATAAACTT		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	17/19						chr6	TogoVar
SBK3_chr19_55535656_55550543	55542493	ATCCACCC others(34): Show ATCCACCCACCAATCCTTCCTTCCATCCATCCACCCATCCGC	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0058 a0003c0004t0001g0058	1	438	0.0023	-41	c.400 others(57): Show c.400-1008_400-968delGCGGATGGGTGGATGGATGGAAGGAAGGA TTGGTGGGTGGA		SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding	3/3						chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78392006	GGAGAGGG others(34): Show GGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGACCGTGGAAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0062 a0001c0001t0010g0062	1	332	0.0030	-41	c.135 others(58): Show c.135+3109_135+3149delGAGAGGGAGAGGGAGACCGTGGAAAGAG AGGGAGAGGGAGA		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCARB1_chr12_124771856_124868864	124839644	TCCCAACG others(34): Show TCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp2 HG02145.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0008 a0001c0013t0016 a0001c0001t0008 a0001c0013t0016	a0001c0001t0008g0331 a0001c0013t0016g0334 a0001c0001t0008g0331 a0001c0013t0016g0334	2	356	0.0056	-41	c.127 others(60): Show c.127-21978_127-21938delGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGG		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCHIP1_chr3_159268244_159902359	159630613	GTAAGTGG others(34): Show GTAAGTGGAGCTAAGCTATGAGGACACAAACATTCTCGCTCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01243.hp1 others(45): Show HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0039 a0001c0002t0001g0051 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0074 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0002g0047 a0001c0002t0003g0083 a0001c0004t0001g0018 a0002c0003t0001g0091	48	100	0.4800	-41	c.64- others(60): Show c.64-133800_64-133760delCATTCTCGCTCATAAGTGGAGCTAAG CTATGAGGACACAAA		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159681886	AGGTTAAC others(34): Show AGGTTAACTTGGGTTAACTCAACGTTAACTTAGGTTAACTTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02055.hp2 others(3): Show HG01167.hp2 HG01169.hp2 HG02055.hp2 HG02922.hp1 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0097 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030	6	100	0.0600	-41	c.64- others(58): Show c.64-82535_64-82495delCGTTAACTTAGGTTAACTTGGGTTAACT TGGGTTAACTCAA		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCN1A_chr2_165980813_166133020	166116575	TAATTCAT others(34): Show TAATTCATCAGATTCAGTGTCCCAGAATCTGATGAATTATCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(326): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 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 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0004 others(17): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0021 a0001c0023 a0001c0024 a0002c0002 a0002c0019 a0003c0007 a0004c0020 a0005c0025 a0006c0015 a0007c0018 a0009c0022 a0010c0009 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(93): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0086 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0003t0020 a0001c0003t0034 a0001c0003t0088 a0001c0004t0032 a0001c0004t0033 a0001c0004t0055 a0001c0005t0084 a0001c0005t0085 a0001c0005t0089 a0001c0006t0041 a0001c0008t0003 a0001c0011t0006 a0001c0021t0003 a0001c0023t0023 a0001c0024t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0026 a0002c0002t0027 a0002c0002t0029 a0002c0002t0030 a0002c0002t0037 a0002c0002t0052 a0002c0002t0054 a0002c0002t0071 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0019t0007 a0003c0007t0044 a0004c0020t0040 a0005c0025t0011 a0006c0015t0007 a0007c0018t0007 a0009c0022t0013 a0010c0009t0045 a0011c0013t0053	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 others(324): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0263 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0002g0274 a0001c0001t0002g0348 a0001c0001t0003g0013 a0001c0001t0003g0094 a0001c0001t0003g0122 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0212 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0277 a0001c0001t0003g0294 a0001c0001t0004g0121 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0241 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0261 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0005g0170 a0001c0001t0005g0185 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0196 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0217 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0230 a0001c0001t0005g0300 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0292 a0001c0001t0006g0296 a0001c0001t0006g0299 a0001c0001t0008g0001 a0001c0001t0008g0180 a0001c0001t0008g0202 a0001c0001t0008g0205 a0001c0001t0008g0206 a0001c0001t0008g0207 a0001c0001t0008g0223 a0001c0001t0008g0233 a0001c0001t0011g0236 a0001c0001t0011g0253 a0001c0001t0011g0258 a0001c0001t0011g0264 a0001c0001t0011g0265 a0001c0001t0011g0282 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0012g0006 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0012 a0001c0001t0013g0173 a0001c0001t0013g0174 a0001c0001t0013g0182 a0001c0001t0013g0215 a0001c0001t0013g0295 a0001c0001t0014g0025 a0001c0001t0014g0027 a0001c0001t0014g0029 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0014g0125 a0001c0001t0016g0177 a0001c0001t0016g0210 a0001c0001t0016g0229 a0001c0001t0016g0235 a0001c0001t0016g0267 a0001c0001t0017g0018 a0001c0001t0017g0028 a0001c0001t0017g0056 a0001c0001t0019g0035 a0001c0001t0019g0103 a0001c0001t0019g0150 a0001c0001t0019g0243 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0021g0162 a0001c0001t0022g0209 a0001c0001t0022g0216 a0001c0001t0022g0244 a0001c0001t0023g0146 a0001c0001t0023g0252 a0001c0001t0024g0293 a0001c0001t0025g0073 a0001c0001t0025g0087 a0001c0001t0025g0088 a0001c0001t0026g0080 a0001c0001t0026g0081 a0001c0001t0028g0008 a0001c0001t0028g0011 a0001c0001t0031g0346 a0001c0001t0031g0347 a0001c0001t0035g0082 a0001c0001t0035g0083 a0001c0001t0038g0156 a0001c0001t0038g0222 a0001c0001t0039g0128 a0001c0001t0039g0255 a0001c0001t0043g0038 a0001c0001t0043g0283 a0001c0001t0046g0352 a0001c0001t0046g0353 a0001c0001t0047g0007 a0001c0001t0048g0005 a0001c0001t0049g0291 a0001c0001t0050g0249 a0001c0001t0051g0036 a0001c0001t0057g0199 a0001c0001t0058g0297 a0001c0001t0059g0247 a0001c0001t0060g0350 a0001c0001t0062g0086 a0001c0001t0063g0051 a0001c0001t0064g0106 a0001c0001t0065g0066 a0001c0001t0066g0203 a0001c0001t0067g0184 a0001c0001t0068g0288 a0001c0001t0069g0287 a0001c0001t0070g0074 a0001c0001t0072g0318 a0001c0001t0073g0050 a0001c0001t0079g0273 a0001c0001t0080g0251 a0001c0001t0081g0231 a0001c0001t0082g0104 a0001c0001t0086g0107 a0001c0001t0090g0272 a0001c0001t0091g0266 a0001c0001t0092g0354 a0001c0003t0020g0163 a0001c0003t0034g0069 a0001c0003t0034g0070 a0001c0003t0088g0312 a0001c0004t0032g0034 a0001c0004t0032g0089 a0001c0004t0033g0032 a0001c0004t0033g0033 a0001c0004t0055g0136 a0001c0005t0084g0072 a0001c0005t0085g0037 a0001c0005t0089g0349 a0001c0006t0041g0095 a0001c0006t0041g0248 a0001c0008t0003g0061 a0001c0008t0003g0225 a0001c0011t0006g0298 a0001c0021t0003g0191 a0001c0023t0023g0176 a0001c0024t0003g0014 a0002c0002t0007g0092 a0002c0002t0007g0137 a0002c0002t0007g0139 a0002c0002t0007g0142 a0002c0002t0007g0145 a0002c0002t0007g0153 a0002c0002t0007g0303 a0002c0002t0009g0304 a0002c0002t0009g0308 a0002c0002t0009g0309 a0002c0002t0009g0310 a0002c0002t0009g0311 a0002c0002t0009g0313 a0002c0002t0009g0351 a0002c0002t0010g0075 a0002c0002t0010g0076 a0002c0002t0010g0077 a0002c0002t0010g0078 a0002c0002t0010g0169 a0002c0002t0010g0325 a0002c0002t0010g0326 a0002c0002t0015g0166 a0002c0002t0018g0178 a0002c0002t0018g0181 a0002c0002t0018g0186 a0002c0002t0018g0187 a0002c0002t0026g0019 a0002c0002t0027g0151 a0002c0002t0027g0152 a0002c0002t0029g0314 a0002c0002t0029g0315 a0002c0002t0030g0039 a0002c0002t0030g0316 a0002c0002t0037g0053 a0002c0002t0037g0055 a0002c0002t0052g0307 a0002c0002t0054g0306 a0002c0002t0071g0079 a0002c0002t0074g0155 a0002c0002t0075g0167 a0002c0002t0076g0143 a0002c0002t0077g0161 a0002c0019t0007g0164 a0003c0007t0044g0149 a0003c0007t0044g0317 a0004c0020t0040g0135 a0005c0025t0011g0254 a0006c0015t0007g0240 a0007c0018t0007g0165 a0009c0022t0013g0172 a0010c0009t0045g0250 a0011c0013t0053g0305	329	356	0.9242	-41	c.-14 others(62): Show c.-142+10308_-142+10348delTGATAATTCATCAGATTCTGGGAC ACTGAATCTGATGAATT		SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28						chr2	TogoVar
SCN5A_chr3_38543062_38654687	38555067	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	340	0.0029	-41	c.454 others(58): Show c.4542+548_4543-519delAAATATATATATATATATATATATATAT ATATATATATATA		SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27						chr3	TogoVar
SCN8A_chr12_51586233_51817864	51702656	GGTTATTT others(34): Show GGTTATTTATTATCTCCAAGGTCATGGAGTAAATAGAATTAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02056.hp1 HG02572.hp1 others(18): Show HG01109.hp1 HG02056.hp1 HG02572.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03927.hp2 HG04204.hp1 NA18974.hp2 NA18977.hp1 NA18999.hp1 NA19043.hp2 NA19058.hp2 NA19081.hp2 NA19084.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0014 others(1): Show a0001c0001 a0001c0005 a0001c0014 a0001c0017	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0005t0013 a0001c0014t0001 a0001c0017t0004	a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0025 others(18): Show a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0056 a0001c0001t0004g0008 a0001c0001t0004g0032 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0101 a0001c0001t0011g0178 a0001c0001t0011g0179 a0001c0001t0011g0180 a0001c0005t0013g0199 a0001c0005t0013g0200 a0001c0014t0001g0102 a0001c0017t0004g0181	21	202	0.1040	-41	c.993 others(54): Show c.993-90_993-50delAGTAAATAGAATTATGTTATTTATTATCTCCA AGGTCATGG		SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	8/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
SCNM1_chr1_151161144_151175296	151171676	CTTCGGAC others(34): Show CTTCGGACCCTCTTTAGTATCTCCTCAATGTTTGTGGGATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	378	0.0027	-41	c.25 others(52): Show c.2592_*2632delTTCGGACCCTCTTTAGTATCTCCTCAATGTTTGT GGGATTT		SCNM1	ENSG00000163156.12	transcript	ENST00000368905.9	protein_coding					1381		chr1	TogoVar
SCNN1B_chr16_23297302_23386294	23377581	TCCCTCCC others(34): Show TCCCTCCCTTCTCCCTTCCTTCCTTCCTTCTTTCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp2 HG03540.hp1 others(2): Show HG02145.hp2 HG03453.hp2 HG03540.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0269 a0001c0001t0001g0271 others(2): Show a0001c0001t0001g0137 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0280 a0001c0001t0001g0282	5	306	0.0163	-41	c.140 others(58): Show c.1404+196_1404+236delCCCTCCCTTCTCCCTTCCTTCCTTCCTT CTTTCTTCCTTCC		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	10/12						chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288916	CTCCGTCC others(34): Show CTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCT	C C	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0002 a0002c0003t0005g0002	1	290	0.0035	-41	c.166 others(58): Show c.1662+880_1662+920delTCCGTCCCCCGTGTCCCTGTTCCGTCCC CCGAGTCTCTGCT		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17						chr1	TogoVar
SCRIB_chr8_143785925_143820773	143808288	CACTGAGA others(34): Show CACTGAGACCAACGCCAGGGCAGGCCTGGGGTCCAAGCATGG	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	387	0.0026	-41	c.211 others(58): Show c.2115+280_2115+320delCCATGCTTGGACCCCAGGCCTGCCCTGG CGTTGGTCTCAGT		SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding	15/36						chr8	TogoVar

Search by Variant

Search

Search Results (Total: 1267 hits)