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
ANKRD11_chr16_89262630_89495561	89448154	C C	CTGGGCAC others(29): Show CTGGGCACCTTGCAGACAGTGGGCACCCTGCAGACAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00621.hp2 others(27): Show HG00423.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG01243.hp1 HG01346.hp2 HG02040.hp2 HG02148.hp1 HG02523.hp2 HG02647.hp2 HG03490.hp1 HG03492.hp2 NA18945.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18977.hp1 NA18980.hp2 NA18995.hp2 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19067.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0002c0002 a0002c0009 others(3): Show a0001c0001 a0002c0002 a0002c0009 a0003c0003 a0004c0004 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0009t0001 a0002c0009t0002 a0003c0003t0001 a0004c0004t0001 a0009c0016t0001	a0001c0001t0001g0281 a0001c0001t0001g0307 a0001c0001t0001g0310 others(27): Show a0001c0001t0001g0281 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0002g0292 a0002c0002t0002g0280 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0289 a0002c0002t0002g0299 a0002c0002t0002g0306 a0002c0009t0001g0294 a0002c0009t0001g0301 a0002c0009t0002g0284 a0003c0003t0001g0164 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0287 a0003c0003t0001g0296 a0003c0003t0001g0298 a0003c0003t0001g0300 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0305 a0004c0004t0001g0288 a0004c0004t0001g0290 a0004c0004t0001g0291 a0004c0004t0001g0293 a0009c0016t0001g0297 a0009c0016t0001g0308	30	310	0.0968	36	c.-14 others(57): Show c.-144-29822_-144-29787dupCTGTCTGCAGGGTGCCCACTGTCT GCAAGGTGCCCA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0226 a0001c0002t0002g0226	1	292	0.0034	36	c.696 others(55): Show c.6962-1474_6962-1473insATATATATATATATATATATATATTT TTTTTTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	292	0.0034	36	c.696 others(55): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT ATTTTTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(29): Show AAAAAAAATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	292	0.0034	36	c.696 others(55): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT TTATTTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18977.hp2 HG02083.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0015 a0001c0003t0003 a0001c0002t0015 a0001c0003t0003	a0001c0002t0015g0119 a0001c0003t0003g0040 a0001c0002t0015g0119 a0001c0003t0003g0040	2	292	0.0069	36	c.696 others(55): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT ATATTTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73158152	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01975.hp1 HG01981.hp2 others(15): Show HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02083.hp2 HG02148.hp1 HG03471.hp1 HG03942.hp2 NA18747.hp1 NA18950.hp1 NA18951.hp2 NA18956.hp2 NA18962.hp2 NA18978.hp1 NA18986.hp1 NA18994.hp2 NA18997.hp1 NA20129.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0023 a0001c0001 a0001c0002 a0006c0023	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0015 a0006c0023t0001	a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0044 others(15): Show a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0081 a0001c0001t0001g0134 a0001c0001t0001g0174 a0001c0002t0002g0062 a0001c0002t0002g0117 a0001c0002t0002g0123 a0001c0002t0002g0144 a0001c0002t0002g0148 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0004g0078 a0001c0002t0004g0124 a0001c0002t0004g0132 a0001c0002t0015g0119 a0006c0023t0001g0231	18	292	0.0616	36	c.705 others(53): Show c.705-2022_705-1987dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	3/33			chr4	TogoVar
ANKRD1_chr10_90907096_90926087	90918983	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG03654.hp2 others(3): Show HG02615.hp1 HG02647.hp1 HG03654.hp2 NA19075.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012	a0001c0001t0002g0173 a0001c0001t0004g0082 a0001c0001t0010g0081 others(3): Show a0001c0001t0002g0173 a0001c0001t0004g0082 a0001c0001t0010g0081 a0001c0001t0010g0083 a0001c0001t0010g0084 a0001c0001t0012g0085	6	468	0.0128	36	c.346 others(49): Show c.346-12_346-11insATATATATATATATATATATATATATATATAT ATAT	ANKRD1	ENSG00000148677.7	transcript	ENST00000371697.4	protein_coding	3/8			chr10	TogoVar
ANKRD23_chr2_96832912_96849021	96848583	T T	TGGGGGGG others(29): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	36	c.-45 others(47): Show c.-4592_-4591insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	ANKRD23	ENSG00000163126.15	transcript	ENST00000318357.9	protein_coding		4563		chr2	TogoVar
ANKRD27_chr19_32592006_32680180	32656103	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0113 a0002c0005t0006g0113	1	348	0.0029	36	c.102 others(53): Show c.102+2810_102+2811insTCTTTTCTTTTCTTTTCTTTCTTTCTTT CTTTCTTT	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding	2/28			chr19	TogoVar
ANKRD28_chr3_15662236_15802979	15720554	G G	GACAAATG others(29): Show GACAAATGTATATAACATAAACCCCTGCCAAAATACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0135 a0002c0006t0001g0135	1	340	0.0029	36	c.996 others(51): Show c.996+325_996+360dupTGTATTTTGGCAGGGGTTTATGTTATATAC ATTTGT	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	8/27			chr3	TogoVar
ANKRD29_chr18_23593926_23667911	23632531	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03195.hp2 HG03098.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0296 a0001c0002t0001g0314 a0001c0001t0001g0296 a0001c0002t0001g0314	2	352	0.0057	36	c.429 others(53): Show c.429+1519_429+1520insTATATATATATATATATATATATATATA TATATATA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	5/9			chr18	TogoVar
ANKRD30A_chr10_37120598_37237567	37167287	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01884.hp1 others(5): Show HG00733.hp2 HG00741.hp2 HG01884.hp1 HG02040.hp2 HG02165.hp1 HG03098.hp2 NA18977.hp2 NA19063.hp1	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0009	a0002c0008 a0004c0004 a0007c0010 others(1): Show a0002c0008 a0004c0004 a0007c0010 a0009c0011	a0002c0008t0001 a0004c0004t0002 a0007c0010t0001 others(1): Show a0002c0008t0001 a0004c0004t0002 a0007c0010t0001 a0009c0011t0001	a0002c0008t0001g0111 a0002c0008t0001g0216 a0004c0004t0002g0270 others(5): Show a0002c0008t0001g0111 a0002c0008t0001g0216 a0004c0004t0002g0270 a0004c0004t0002g0280 a0007c0010t0001g0086 a0007c0010t0001g0104 a0009c0011t0001g0251 a0009c0011t0001g0252	8	286	0.0280	36	c.215 others(53): Show c.2155+607_2155+608insTATATATATATATATATATATATATATA TATATATA	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	19/35		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD31_chr5_75063297_75241878	75224129	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	334	0.0030	36	c.179 others(53): Show c.179-1772_179-1771insTACATATATATATATATATATATATATA TATATATA	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	2/25			chr5	TogoVar
ANKRD34B_chr5_80551755_80575280	80568925	C C	CACACACA others(29): Show CACACACACACACACACACACACACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	392	0.0026	36	c.-19 others(51): Show c.-191+34_-191+35insCTCTCTCTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding	2/4			chr5	TogoVar
ANKRD40CL_chr17_50756030_50772518	50761033	A A	ATTATTTA others(29): Show ATTATTTATTTATTTATTTATTTATTTATTTATTTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0056 a0001c0001t0010g0056	1	456	0.0022	36	c.32 others(45): Show c.329_*330insATAAATAAATAAATAAATAAATAAATAAATAAATAA	ANKRD40CL	ENSG00000167117.10	transcript	ENST00000450727.6	protein_coding	4/4	329		chr17	TogoVar
ANKRD40CL_chr17_50756030_50772518	50767613	A A	ACAGAGGA others(29): Show ACAGAGGAGCATGCTGATCACAGACACCAGCAAGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	456	0.0022	36	c.-25 others(45): Show c.-250_-249insGGTCTTGCTGGTGTCTGTGATCAGCATGCTCCTCTG	ANKRD40CL	ENSG00000167117.10	transcript	ENST00000450727.6	protein_coding		96		chr17	TogoVar
ANKRD44_chr2_196981662_197315780	197305965	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp1 HG02976.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0070 a0001c0001t0005g0085 a0001c0001t0004g0070 a0001c0001t0005g0085	2	114	0.0175	36	c.27+ others(51): Show c.27+4612_27+4613insTATATATATATATATATATATATATATATA TATATA	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	1/27			chr2	TogoVar
ANKRD44_chr2_196981662_197315780	197305967	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	114	0.0088	36	c.27+ others(51): Show c.27+4610_27+4611insTATATATATATATATATATATATATATATA TATATA	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	1/27			chr2	TogoVar
ANKRD55_chr5_56094680_56238330	56166153	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCCTTC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	308	0.0033	36	c.422 others(53): Show c.422+4540_422+4541insGAAGGAAAGAAGAAAGAAAGAAAGAAAG AAAGAAAG	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56166153	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0271 a0001c0003t0001g0271	1	308	0.0033	36	c.422 others(53): Show c.422+4540_422+4541insGAAAGAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56166199	T T	TTCCTTCC others(29): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	308	0.0033	36	c.422 others(53): Show c.422+4494_422+4495insGAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD66_chr6_46741933_46764506	46744355	C C	CTCTTCTC others(29): Show CTCTTCTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	402	0.0025	36	c.-27 others(47): Show c.-2732_-2731insTCTTCTCTTCTTCTTCTTCTTTCTTCTTCTTCTT CT	ANKRD66	ENSG00000230062.7	transcript	ENST00000565422.3	protein_coding		2577		chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89608368	C C	CACACACA others(29): Show CACACACACACACACACACACACTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0007 a0004c0006t0007	a0004c0006t0007g0104 a0004c0006t0007g0104	1	270	0.0037	36	c.417 others(53): Show c.417+2263_417+2264insACACACACACACACACACACACTATATA TATATATA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15			chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89608368	C C	CACACACA others(29): Show CACACACACACACACACACACTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01943.hp2 HG02129.hp1 others(2): Show HG00323.hp1 HG01943.hp2 HG02129.hp1 HG04199.hp2 NA20905.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0008 a0004c0014 a0005c0004 a0003c0008 a0004c0014 a0005c0004	a0003c0008t0003 a0004c0014t0001 a0005c0004t0004 a0003c0008t0003 a0004c0014t0001 a0005c0004t0004	a0003c0008t0003g0252 a0003c0008t0003g0261 a0004c0014t0001g0196 others(2): Show a0003c0008t0003g0252 a0003c0008t0003g0261 a0004c0014t0001g0196 a0005c0004t0004g0038 a0005c0004t0004g0263	5	270	0.0185	36	c.417 others(53): Show c.417+2263_417+2264insACACACACACACACACACACTATATATA TATATATA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15			chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89608368	C C	CACACACA others(29): Show CACACACACACACACACACTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0191 a0003c0015t0002g0191	1	270	0.0037	36	c.417 others(53): Show c.417+2263_417+2264insACACACACACACACACACTATATATATA TATATATA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15			chr6	TogoVar
ANKS1B_chr12_98738974_99989936	98800675	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0046 a0001c0001t0025g0046	1	48	0.0208	36	c.327 others(53): Show c.3270+321_3270+322insATATATATATATATATATATATATATAT ATATATAT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	21/26			chr12	TogoVar
ANO1_chr11_70073317_70194530	70095248	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0082 a0004c0012t0001g0082	1	302	0.0033	36	c.441 others(53): Show c.441+7198_441+7199insAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095251	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01167.hp2 others(9): Show HG00741.hp2 HG01069.hp1 HG01167.hp2 HG02486.hp1 HG02723.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03492.hp1 NA18952.hp2	a0003 a0006 a0014 others(1): Show a0003 a0006 a0014 a0015	a0003c0007 a0003c0010 a0003c0014 others(4): Show a0003c0007 a0003c0010 a0003c0014 a0003c0019 a0006c0013 a0014c0021 a0015c0020	a0003c0007t0001 a0003c0010t0001 a0003c0014t0001 others(4): Show a0003c0007t0001 a0003c0010t0001 a0003c0014t0001 a0003c0019t0001 a0006c0013t0001 a0014c0021t0003 a0015c0020t0001	a0003c0007t0001g0170 a0003c0007t0001g0173 a0003c0007t0001g0174 others(9): Show a0003c0007t0001g0170 a0003c0007t0001g0173 a0003c0007t0001g0174 a0003c0010t0001g0168 a0003c0010t0001g0179 a0003c0014t0001g0176 a0003c0014t0001g0180 a0003c0019t0001g0172 a0006c0013t0001g0177 a0006c0013t0001g0178 a0014c0021t0003g0171 a0015c0020t0001g0175	12	302	0.0397	36	c.441 others(53): Show c.441+7198_441+7199insAGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095251	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp1 HG02083.hp2 others(3): Show HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02523.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0051 a0001c0001t0001g0089 a0001c0001t0001g0090 others(3): Show a0001c0001t0001g0051 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0117 a0001c0002t0006g0064	6	302	0.0199	36	c.441 others(53): Show c.441+7202_441+7203insAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095299	G G	GGAAGGAA others(29): Show GGAAGGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18986.hp1 NA19003.hp2 others(1): Show NA18955.hp1 NA18986.hp1 NA19003.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0003 a0001c0001t0001 a0001c0002t0001 a0002c0005t0003	a0001c0001t0001g0141 a0001c0001t0001g0252 a0001c0002t0001g0138 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0252 a0001c0002t0001g0138 a0002c0005t0003g0137	4	302	0.0133	36	c.441 others(53): Show c.441+7218_441+7219insGGAAAGAAAGAAGGAAGGAAGGAAGGAA GGAAAGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO2_chr12_5557655_5950259	5610723	C C	CATATATA others(29): Show CATATATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0156 a0001c0001t0005g0156	1	162	0.0062	36	c.208 others(55): Show c.2087+1932_2087+1933insATATATATATATATATATATATATAT ATGTATATAT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	19/24			chr12	TogoVar
ANO3_chr11_26327130_26668289	26529407	A A	ATATATAA others(29): Show ATATATAATAATATATTATTATATATTATTATATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	190	0.0053	36	c.738 others(53): Show c.738-1780_738-1779insTATATATTATTATATAATTATATAATAA TATATTAT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26544251	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0087 a0001c0009t0004g0087	1	190	0.0053	36	c.115 others(55): Show c.1154+2206_1154+2207insTATATATATATATATATATATATATA TATATATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO4_chr12_100789776_101133629	101080865	G G	GATATATA others(29): Show GATATATATATATATTATATATATATATATATATTAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG04199.hp2 HG01261.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0156 a0001c0001t0001g0121 a0001c0001t0001g0156	2	236	0.0085	36	c.139 others(55): Show c.1395+1604_1395+1605insTATATATATATATATATATTATATAT ATATATATAT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO5_chr11_22188085_22288357	22267508	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18960.hp2 NA18963.hp1 others(6): Show HG02055.hp1 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA19011.hp2 NA19058.hp1 NA19062.hp1 NA19082.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0003g0108 a0001c0001t0003g0117 a0001c0001t0003g0127 others(6): Show a0001c0001t0003g0108 a0001c0001t0003g0117 a0001c0001t0003g0127 a0001c0001t0003g0132 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0004g0112 a0001c0001t0004g0134 a0001c0001t0010g0105	9	364	0.0247	36	c.189 others(55): Show c.1899-2788_1899-2787insTATATATATATATATATATATATATA TATATATATA	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22267508	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02257.hp2 HG02630.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0020 a0003c0005t0019 a0003c0005t0020	a0003c0005t0019g0021 a0003c0005t0020g0019 a0003c0005t0019g0021 a0003c0005t0020g0019	2	364	0.0055	36	c.189 others(55): Show c.1899-2803_1899-2802insTTATATATATATATATATATATATAT ATATATATAT	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22288297	T T	TACCAAAG others(29): Show TACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0022 a0001c0010t0022	a0001c0010t0022g0297 a0001c0010t0022g0297	1	364	0.0028	36	c.85 others(47): Show c.8532_*8533insACCAAAGCCGGGCAGAGACACAACCAAAAAAGAG AA	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding		4941		chr11	TogoVar
ANO6_chr12_45211095_45437349	45317107	T T	TTATGTGT others(29): Show TTATGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	234	0.0043	36	c.151 others(55): Show c.151-14185_151-14184insGTGTGTGTGTGTATATATATATATAT ATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19030.hp1 NA19080.hp2 HG02523.hp2 NA19030.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0085 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0085	3	234	0.0128	36	c.151 others(55): Show c.151-14181_151-14180insGTGTGTATATATATATATATATATAT ATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(29): Show GTGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0180 a0003c0005t0010g0180	1	234	0.0043	36	c.151 others(55): Show c.151-14181_151-14180insGTGTGTGTATATATATATATATATAT ATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANP32E_chr1_150213417_150241112	150221600	G G	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0062 a0002c0001t0001g0062	1	370	0.0027	36	c.737 others(51): Show c.737-840_737-839insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANP32E_chr1_150213417_150241112	150221604	G G	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp2 others(48): Show HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01261.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02300.hp1 HG02572.hp1 HG02717.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18973.hp2 NA18984.hp2 NA18985.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19011.hp2 NA19054.hp2 NA19055.hp1 NA19060.hp1 NA19066.hp1 NA19074.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0024	a0001c0002t0001g0066 a0001c0002t0001g0071 a0001c0002t0001g0086 others(46): Show a0001c0002t0001g0066 a0001c0002t0001g0071 a0001c0002t0001g0086 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0009g0220 a0001c0003t0001g0301 a0001c0003t0001g0305 a0001c0003t0001g0306 a0002c0001t0001g0015 a0002c0001t0001g0017 a0002c0001t0001g0049 a0002c0001t0001g0058 a0002c0001t0001g0084 a0002c0001t0001g0090 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0102 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0120 a0002c0001t0001g0125 a0002c0001t0001g0129 a0002c0001t0001g0131 a0002c0001t0001g0139 a0002c0001t0001g0148 a0002c0001t0001g0150 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0177 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0181 a0002c0001t0001g0183 a0002c0001t0001g0186 a0002c0001t0002g0081 a0002c0001t0002g0114 a0002c0001t0002g0126 a0002c0001t0002g0170 a0002c0001t0002g0187 a0002c0001t0024g0166	51	370	0.1378	36	c.737 others(51): Show c.737-844_737-843insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANP32E_chr1_150213417_150241112	150221604	G G	GGGAGGGA others(29): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0044 a0001c0003t0005g0044	1	370	0.0027	36	c.737 others(51): Show c.737-844_737-843insTTCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANP32E_chr1_150213417_150241112	150221612	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03209.hp1 HG01175.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0207 a0001c0003t0001g0212 a0001c0003t0001g0207 a0001c0003t0001g0212	2	370	0.0054	36	c.737 others(51): Show c.737-852_737-851insCTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANTXR1_chr2_69008179_69254327	69096282	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	206	0.0049	36	c.703 others(53): Show c.703+5370_703+5371insAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGG	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR1_chr2_69008179_69254327	69219384	G G	GACACACA others(29): Show GACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp1 HG01261.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0161 a0001c0001t0001g0022 a0001c0001t0001g0161	2	206	0.0097	36	c.143 others(57): Show c.1435-25838_1435-25803dupACACACACACACACACACACACAC ACACACACACAC	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA10_chr4_168087537_168192736	168156227	T T	TTATATTA others(29): Show TTATATTATATATAATGTATATATTATATATAATGTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	284	0.0035	36	c.196 others(53): Show c.196-6286_196-6285insGTATATATTATATATAATGTATATATTA TATATAAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA2R_chr5_43034371_43045319	43044037	A A	AATATAAA others(29): Show AATATAAAATATATATTATATATAAAATATATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02615.hp2 NA18982.hp2 HG02258.hp1 HG02615.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000	3	296	0.0101	36	c.-39 others(47): Show c.-3992_-3991insATAATATATATTTTATATATAATATATATTTTAT AT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3719		chr5	TogoVar
ANXA2R_chr5_43034371_43045319	43044042	A A	AAAATATA others(29): Show AAAATATATATTATATATAAAATATATATTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	296	0.0034	36	c.-39 others(47): Show c.-3997_-3996insCATATATAATATATATTTTATATATAATATATAT TT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3724		chr5	TogoVar
ANXA2R_chr5_43034371_43045319	43044072	A A	ATATATGA others(29): Show ATATATGAAATATATATTATATATGAAATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18944.hp1 NA18969.hp1 others(4): Show NA18941.hp2 NA18944.hp1 NA18969.hp1 NA18983.hp2 NA19012.hp2 NA19063.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	296	0.0237	36	c.-40 others(47): Show c.-4027_-4026insAAATATATATTTCATATATAATATATATTTCATA TA	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3754		chr5	TogoVar

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