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
S1PR4_chr19_3173769_3185332	3174433	ACCTGTGC others(31): Show ACCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-38	c.-43 others(49): Show c.-4359_-4322delCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGG GACG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4335		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174862	CTCATGGG others(31): Show CTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-38	c.-39 others(49): Show c.-3930_-3893delTCATGGGACGCCTGTGCCCCTCATGGGACGCCTG TGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3906		chr19	TogoVar
SAMD11_chr1_918923_949574	939173	GGCAGTCC others(31): Show GGCAGTCCCTGAGGGTCCCCTGGACCTCGAGCAGGCACT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	434	0.0023	-38	c.105 others(53): Show c.1057+45_1058-64delGCAGTCCCTGAGGGTCCCCTGGACCTCGAG CAGGCACT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	6/13			chr1	TogoVar
SAMD12_chr8_118372984_118626963	118605765	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00642.hp1 others(29): Show HG00438.hp2 HG00558.hp2 HG00642.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG02572.hp2 HG02615.hp1 HG02886.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 NA18974.hp2 NA18998.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0003t0002	a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0101 others(29): Show a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0101 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0143 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0003g0077 a0001c0001t0003g0103 a0001c0001t0003g0120 a0001c0001t0003g0127 a0001c0001t0003g0142 a0001c0001t0004g0071 a0001c0001t0004g0076 a0001c0001t0004g0146 a0001c0001t0006g0116 a0001c0001t0020g0113 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0088 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0114 a0001c0002t0001g0122 a0001c0002t0001g0162 a0001c0002t0001g0166 a0001c0002t0001g0179 a0001c0002t0005g0132 a0001c0002t0005g0145 a0001c0002t0009g0144 a0001c0003t0002g0074	32	188	0.1702	-38	c.13+ others(55): Show c.13+16001_13+16038delATATATATATATATATATATATATATAT ATATATATAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3			chr8	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18943.hp2 HG06807.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0017 a0001c0001t0013 a0001c0001t0017	a0001c0001t0013g0190 a0001c0001t0017g0081 a0001c0001t0013g0190 a0001c0001t0017g0081	2	262	0.0076	-38	c.197 others(57): Show c.197-23583_197-23546delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SARM1_chr17_28366694_28409049	28371988	TGGCCCCG others(31): Show TGGCCCCGCCTCCAGGCCGGGGATGTCCCCCGCGGCCCC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0181 a0001c0001t0044g0181	1	336	0.0030	-38	c.-43 others(44): Show c.-43_-6delGCCCCGCCTCCAGGCCGGGGATGTCCCCCGCGGCCCCG	SARM1	ENSG00000004139.14	transcript	ENST00000585482.6	protein_coding	1/9	6	INFO_REALIGN_3_PRIME	chr17	TogoVar
SASH1_chr6_148337838_148557044	148486936	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01099.hp2 others(9): Show HG00323.hp2 HG00738.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01981.hp2 HG02257.hp1 HG03831.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(3): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0002c0005 a0002c0037	a0001c0001t0001 a0001c0003t0002 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0003t0002 a0001c0013t0001 a0002c0002t0004 a0002c0005t0006 a0002c0005t0035 a0002c0037t0006	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0003t0002g0241 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0003t0002g0241 a0001c0013t0001g0164 a0002c0002t0004g0009 a0002c0005t0006g0013 a0002c0005t0006g0061 a0002c0005t0006g0105 a0002c0005t0006g0161 a0002c0005t0006g0302 a0002c0005t0035g0148 a0002c0037t0006g0145	12	322	0.0373	-38	c.628 others(53): Show c.628-657_628-620delATATATATATATATATATATATATATATAT ATATATAT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATL1_chrX_85087284_85248779	85156813	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19000.hp1 NA19063.hp1 NA18989.hp1 NA19000.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023	3	232	0.0129	-38	c.-31 others(59): Show c.-312-47571_-312-47534delTATATATATATATATATATATATA TATATATATATATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	10298328	TTGCAGTG others(31): Show TTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	224	0.0045	-38	c.-42 others(49): Show c.-4297_-4260delCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCAC TGCA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding		4110		chr11	TogoVar
SBK2_chr19_55523611_55542133	55538177	CGGACTCC others(31): Show CGGACTCCTGGGCCTGAGGGTGGAGGGGGTTGAGGACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0178 a0001c0001t0013g0178	1	434	0.0023	-38	c.-11 others(49): Show c.-1164_-1127delAGGTCCTCAACCCCCTCCACCCTCAGGCCCAGGA GTCC	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		1045		chr19	TogoVar
SBK3_chr19_55535656_55550543	55538177	CGGACTCC others(31): Show CGGACTCCTGGGCCTGAGGGTGGAGGGGGTTGAGGACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	438	0.0023	-38	c.26 others(49): Show c.2631_*2668delAGGTCCTCAACCCCCTCCACCCTCAGGCCCAGGA GTCC	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		2478		chr19	TogoVar
SBNO2_chr19_1102638_1179268	1157784	ACCGGGTA others(31): Show ACCGGGTAACTGTGTCCGCCTCCCAGCTCTCTCCTGAGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0060 a0001c0011t0001g0060	1	203	0.0049	-38	c.-12 others(57): Show c.-126-3420_-126-3383delACTCAGGAGAGAGCTGGGAGGCGGAC ACAGTTACCCGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAF11_chr12_45914131_45995574	45972893	GATATATA others(31): Show GATATATATATATATAGATATATATATAGATATATAGAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00642.hp2 others(22): Show HG00280.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01175.hp1 HG01192.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03490.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04228.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0022 a0001c0001 a0014c0022	a0001c0001t0001 a0001c0001t0011 a0014c0022t0001 a0001c0001t0001 a0001c0001t0011 a0014c0022t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0145 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0145 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0011g0261 a0014c0022t0001g0205	25	344	0.0727	-38	c.-21 others(55): Show c.-21-8743_-21-8706delATCTATATATCTATATATATATCTATAT ATATATATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF8_chr6_154728416_154839221	154794780	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG03098.hp2 others(2): Show HG02258.hp2 HG02630.hp1 HG03098.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 others(2): Show a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084	5	282	0.0177	-38	c.476 others(53): Show c.476-216_476-179delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAMP1_chr5_78355617_78485739	78460789	CTTCCTTC others(31): Show CTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	332	0.0030	-38	c.852 others(55): Show c.852+1428_852+1465delTTCCTTCCTTCCTTCCTCCCTTCCTTCC TTCCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCARF1_chr17_1628858_1650732	1643238	TCCCCGCC others(31): Show TCCCCGCCCACCGGTGTCCGCCCCGCCCACCGGTGCCCG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG00609.hp1 others(67): Show HG00140.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp2 HG01106.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02155.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18955.hp2 NA18966.hp1 NA18967.hp1 NA18974.hp1 NA18981.hp1 NA18987.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19043.hp1 NA19056.hp2 NA19059.hp1 NA19064.hp2 NA19077.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0012 a0013 a0017 a0019 a0021 a0025 a0031	a0001c0001 a0002c0002 a0003c0003 others(13): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0007c0008 a0008c0018 a0010c0013 a0012c0014 a0013c0041 a0013c0042 a0017c0038 a0019c0039 a0021c0036 a0025c0026 a0031c0025	a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 others(17): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0004c0004t0002 a0005c0005t0002 a0005c0005t0003 a0007c0008t0002 a0008c0018t0002 a0010c0013t0002 a0012c0014t0002 a0012c0014t0007 a0013c0041t0002 a0013c0042t0003 a0017c0038t0009 a0019c0039t0004 a0021c0036t0003 a0025c0026t0002 a0031c0025t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 others(49): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0002c0002t0002g0091 a0003c0003t0002g0008 a0003c0003t0002g0032 a0003c0003t0002g0055 a0003c0003t0002g0058 a0003c0003t0002g0062 a0003c0003t0002g0075 a0003c0003t0002g0082 a0003c0003t0002g0097 a0003c0003t0002g0214 a0003c0003t0003g0076 a0003c0003t0003g0095 a0003c0003t0004g0083 a0004c0004t0002g0009 a0004c0004t0002g0090 a0005c0005t0002g0068 a0005c0005t0002g0074 a0005c0005t0002g0085 a0005c0005t0002g0087 a0005c0005t0003g0086 a0005c0005t0003g0088 a0007c0008t0002g0031 a0007c0008t0002g0059 a0007c0008t0002g0080 a0007c0008t0002g0081 a0007c0008t0002g0084 a0008c0018t0002g0210 a0008c0018t0002g0211 a0010c0013t0002g0030 a0010c0013t0002g0226 a0012c0014t0002g0227 a0012c0014t0002g0228 a0012c0014t0007g0223 a0013c0041t0002g0230 a0013c0042t0003g0229 a0017c0038t0009g0224 a0019c0039t0004g0222 a0021c0036t0003g0208 a0025c0026t0002g0215 a0031c0025t0002g0089	70	401	0.1746	-38	c.791 others(53): Show c.791+166_791+203delCGGGCACCGGTGGGCGGGGCGGACACCGGT GGGCGGGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1643273	CCCGCCCC others(31): Show CCCGCCCCGCCCACCGGTGTCCGCCCCGCCCACCGGTGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp1 HG04184.hp1 others(1): Show HG01175.hp2 HG01346.hp1 HG04184.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0052 a0001c0001t0001g0212 a0001c0001t0001g0213	4	401	0.0100	-38	c.791 others(53): Show c.791+131_791+168delACACCGGTGGGCGGGGCGGACACCGGTGGG CGGGGCGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1643293	CCGCCCCG others(31): Show CCGCCCCGCCCACCGGTGTCCGCCCCGCCCACCTGTCTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0010 a0009c0009t0010	a0009c0009t0010g0199 a0009c0009t0010g0199	1	401	0.0025	-38	c.791 others(53): Show c.791+111_791+148delAAGACAGGTGGGCGGGGCGGACACCGGTGG GCGGGGCG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCEL_chr13_77530706_77650263	77637301	TATATATA others(31): Show TATATATACATATATATAAATATATATACATATATAAAC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0343 a0001c0004t0005g0343	1	356	0.0028	-38	c.183 others(55): Show c.1838+123_1838+160delTAAATATATATACATATATAAACATATA TACATATATA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD1_chr14_30617319_30740850	30703910	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0324 a0002c0002t0001g0324	1	328	0.0031	-38	c.149 others(57): Show c.1490+1551_1490+1588delTATATATATATATATATATATATATA TATATATATATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCGB1C1_chr11_188078_199575	191799	ACCTAACC others(31): Show ACCTAACCCTAACCCTAACCCCTAACCCCTAACCCTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02486.hp1 HG02559.hp1 others(17): Show HG00423.hp1 HG02486.hp1 HG02559.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18964.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0001 a0001c0003 a0001c0004 a0002c0001	a0001c0003t0001 a0001c0004t0002 a0002c0001t0002 a0001c0003t0001 a0001c0004t0002 a0002c0001t0002	a0001c0003t0001g0003 a0001c0004t0002g0001 a0002c0001t0002g0001 others(1): Show a0001c0003t0001g0003 a0001c0004t0002g0001 a0002c0001t0002g0001 a0002c0001t0002g0006	20	354	0.0565	-38	c.-13 others(49): Show c.-1300_-1263delCCTAACCCTAACCCTAACCCCTAACCCCTAACCC TAAC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1278		chr11	TogoVar
SCGB1C1_chr11_188078_199575	191852	TAACCCCT others(31): Show TAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	354	0.0028	-38	c.-12 others(49): Show c.-1247_-1210delAACCCCTAACCCCTAACCCTAACCCTAACCCTAA CCCC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1225		chr11	TogoVar
SCGB1C1_chr11_188078_199575	195360	GGTACACC others(31): Show GGTACACCCATGTCCAAGGGGGTTGGGAGCCGCAGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	354	0.0028	-38	c.91 others(47): Show c.911_*948delGTACACCCATGTCCAAGGGGGTTGGGAGCCGCAGGT GA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		786		chr11	TogoVar
SCGB1D4_chr11_62291281_62304075	62300189	CATACTGA others(31): Show CATACTGACCCCACAGGCTTCTCTCTCTGGCGATTTTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	430	0.0023	-38	c.-12 others(49): Show c.-1217_-1180delTCAAAATCGCCAGAGAGAGAAGCCTGTGGGGTCA GTAT	SCGB1D4	ENSG00000197745.3	transcript	ENST00000358585.3	protein_coding		1115		chr11	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	368	0.0027	-38	c.154 others(55): Show c.154-3532_154-3495delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159626202	AGATAGAT others(31): Show AGATAGATATATCTAGATATATATATATCTAGATATATC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02698.hp2 HG02976.hp1 others(3): Show HG02055.hp1 HG02698.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0078 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0002t0001g0061 a0001c0002t0001g0082	6	100	0.0600	-38	c.64- others(57): Show c.64-138240_64-138203delGATAGATATATCTAGATATATATATA TCTAGATATATC	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCLY_chr2_238056001_238104413	238077074	GTATTATT others(31): Show GTATTATTAATCAGTGGTCTGATTAATAGTTGATCACAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0167 a0001c0005t0167	a0001c0005t0167g0276 a0001c0005t0167g0276	1	392	0.0026	-38	c.485 others(55): Show c.485-4629_485-4592delTTAATCAGTGGTCTGATTAATAGTTGAT CACACTATTA	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCML4_chr6_107697154_107829313	107778206	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0011 a0001c0001t0013g0011	1	250	0.0040	-38	c.-59 others(55): Show c.-59-5858_-59-5821delATATATATATATATATATATATTTTTTT TTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813387	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01952.hp2 HG01257.hp2 HG01952.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0022 a0002c0006t0009 a0002c0006t0022	a0002c0006t0009g0016 a0002c0006t0022g0015 a0002c0006t0009g0016 a0002c0006t0022g0015	2	250	0.0080	-38	c.-60 others(57): Show c.-60+10701_-60+10738delTTATATATATATATATATATATATAT ATATATATATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN2A_chr2_165234414_165397304	165306504	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	358	0.0028	-38	c.387 others(55): Show c.387-1332_387-1295delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2B_chr11_118157806_118181639	118168382	CTTTTCCT others(31): Show CTTTTCCTGGGGAAGAGAGGCAGTTACCTCTGTGAGGCA	C C	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0224 a0001c0001t0054g0224	1	450	0.0022	-38	c.238 others(52): Show c.238-125_238-88delTGCCTCACAGAGGTAACTGCCTCTCTTCCCC AGGAAAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding	2/3			chr11	TogoVar
SCN7A_chr2_166398573_166499249	166414103	TTATATAT others(31): Show TTATATATAAATATATATAATATATTATATATATGTAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	394	0.0025	-38	c.341 others(56): Show c.3415-1020_3415-983delTTTACATATATATAATATATTATATAT ATTTATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1A_chr12_6341847_6380563	6379026	GATGACGG others(31): Show GATGACGGAAGTAATCACTCCACCCTCCTAGGGAGAGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0117 a0005c0013t0001g0117	1	454	0.0022	-38	c.-36 others(49): Show c.-3614_-3577delGGCTCTCCCTAGGAGGGTGGAGTGATTACTTCCG TCAT	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding		3464		chr12	TogoVar
SCNN1D_chr1_1275436_1297025	1284383	CTCTTTCC others(31): Show CTCTTTCCGATGCCTGGCCCCGTGTGCCATCAGGAACAG	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0210 a0001c0009t0001g0210	1	290	0.0035	-38	c.464 others(53): Show c.464+294_464+331delTCTTTCCGATGCCTGGCCCCGTGTGCCATC AGGAACAG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288242	TGTCTCTG others(31): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA19088.hp1 HG02896.hp2 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0148 a0003c0004t0003g0151 a0003c0004t0003g0148 a0003c0004t0003g0151	2	290	0.0069	-38	c.166 others(55): Show c.1662+228_1662+265delCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288341	CCCGTCCC others(31): Show CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	290	0.0035	-38	c.166 others(55): Show c.1662+312_1662+349delCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288511	TCCCGTGT others(31): Show TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 NA19079.hp1 HG02258.hp1 HG02976.hp2 NA19079.hp1	a0004 a0009 a0004 a0009	a0004c0008 a0009c0013 a0004c0008 a0009c0013	a0004c0008t0001 a0009c0013t0001 a0004c0008t0001 a0009c0013t0001	a0004c0008t0001g0239 a0004c0008t0001g0240 a0009c0013t0001g0078 a0004c0008t0001g0239 a0004c0008t0001g0240 a0009c0013t0001g0078	3	290	0.0103	-38	c.166 others(55): Show c.1662+483_1662+520delCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288898	CTCCGTCC others(31): Show CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	290	0.0035	-38	c.166 others(55): Show c.1662+870_1662+907delGTGTCTCTGCTCCGTCCCCCGTGTCCCT GTTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289002	TGTCTCTG others(31): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	290	0.0035	-38	c.166 others(56): Show c.1662+987_1662+1024delCCTGCTCCGTCCCCCGAGTCTCTGCTC CGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	CCCCGAGT others(31): Show CCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19057.hp1 NA18969.hp1 NA19057.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0003 a0002c0002t0001 a0003c0004t0003	a0002c0002t0001g0089 a0003c0004t0003g0146 a0002c0002t0001g0089 a0003c0004t0003g0146	2	290	0.0069	-38	c.166 others(57): Show c.1662+1041_1662+1078delAGTCTCTGCTCCGTCCCCCGTGTCCC TGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289143	CCCGTCCC others(31): Show CCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCT	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0154 a0003c0004t0003g0154	1	290	0.0035	-38	c.166 others(57): Show c.1662+1114_1663-1083delGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289252	TCTGCTCC others(31): Show TCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	290	0.0035	-38	c.166 others(56): Show c.1663-1014_1663-977delTCCGTCCCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289257	TCCGTCCC others(31): Show TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA19007.hp2 HG01361.hp2 NA19007.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0175 a0003c0004t0003g0005 a0001c0001t0001g0175 a0003c0004t0003g0005	2	290	0.0069	-38	c.166 others(56): Show c.1663-1006_1663-969delCCGTGTCCCTGCTCCGTCCCGTGTCCC TGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289299	TCCCGTGT others(31): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	290	0.0035	-38	c.166 others(55): Show c.1663-958_1663-921delCCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289638	TGTCTCTG others(31): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0239 a0004c0008t0001g0239	1	290	0.0035	-38	c.166 others(55): Show c.1663-611_1663-574delCCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCT_chr11_621309_632181	628945	CTTTCTTT others(31): Show CTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02080.hp2 HG02135.hp1 others(3): Show HG02040.hp1 HG02080.hp2 HG02135.hp1 HG02155.hp1 NA18973.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	411	0.0146	-38	c.-18 others(49): Show c.-1840_-1803delAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1765		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43217032	CGCCAGGT others(31): Show CGCCAGGTGTCACCTCTTTACCAACAGCTTCCCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02129.hp1 HG02735.hp2 others(7): Show HG02080.hp2 HG02129.hp1 HG02735.hp2 HG03130.hp2 HG03471.hp2 NA18943.hp1 NA18944.hp1 NA18990.hp2 NA19066.hp1 NA19068.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0039 a0002c0002 a0003c0007 others(1): Show a0001c0039 a0002c0002 a0003c0007 a0005c0030	a0001c0039t0040 a0002c0002t0013 a0003c0007t0001 others(1): Show a0001c0039t0040 a0002c0002t0013 a0003c0007t0001 a0005c0030t0014	a0001c0039t0040g0134 a0002c0002t0013g0062 a0002c0002t0013g0100 others(7): Show a0001c0039t0040g0134 a0002c0002t0013g0062 a0002c0002t0013g0100 a0002c0002t0013g0175 a0003c0007t0001g0102 a0003c0007t0001g0105 a0003c0007t0001g0193 a0003c0007t0001g0226 a0005c0030t0014g0239 a0005c0030t0014g0240	10	280	0.0357	-38	c.189 others(57): Show c.1891+1185_1891+1222delAGGGTGGGGAAGCTGTTGGTAAAGAG GTGACACCTGGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	15/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3321761	CCCTTCCT others(31): Show CCCTTCCTTCCTTCCTTCTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG03139.hp1 HG02615.hp2 HG02886.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0067 a0002c0012 a0001c0067 a0002c0012	a0001c0067t0068 a0002c0012t0016 a0001c0067t0068 a0002c0012t0016	a0001c0067t0068g0001 a0002c0012t0016g0002 a0002c0012t0016g0003 a0001c0067t0068g0001 a0002c0012t0016g0002 a0002c0012t0016g0003	3	116	0.0259	-38	c.298 others(57): Show c.298+19895_298+19932delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3708269	CACCTCCA others(31): Show CACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0028 a0001c0034t0028	a0001c0034t0028g0097 a0001c0034t0028g0097	1	116	0.0086	-38	c.713 others(57): Show c.713+66583_713+66620delACCTCCAAGGTCCAGTTACCTCCCAC CAGGCCCTCCAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4029062	GGGGTGGG others(31): Show GGGGTGGGGGTCACTGAATTGATAGACCTTTTCCGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02735.hp1 HG02809.hp2 others(3): Show HG02451.hp2 HG02735.hp1 HG02809.hp2 HG02965.hp2 HG03225.hp1 HG03225.hp2	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0011 a0001c0025 a0001c0031 others(3): Show a0001c0011 a0001c0025 a0001c0031 a0001c0088 a0002c0009 a0022c0050	a0001c0011t0008 a0001c0025t0024 a0001c0031t0001 others(3): Show a0001c0011t0008 a0001c0025t0024 a0001c0031t0001 a0001c0088t0009 a0002c0009t0056 a0022c0050t0019	a0001c0011t0008g0028 a0001c0025t0024g0088 a0001c0031t0001g0018 others(3): Show a0001c0011t0008g0028 a0001c0025t0024g0088 a0001c0031t0001g0018 a0001c0088t0009g0048 a0002c0009t0056g0044 a0022c0050t0019g0092	6	116	0.0517	-38	c.260 others(59): Show c.2602+11748_2602+11785delTGGGTGGGGGTCACTGAATTGATA GACCTTTTCCGAGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	17/44		INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 2603 hits)