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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0271 a0002c0002t0013g0271	1	294	0.0034	28	c.169 others(45): Show c.1698-170_1698-169insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(21): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18993.hp2 HG01928.hp1 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0002c0008t0003 a0001c0001t0002 a0002c0008t0003	a0001c0001t0002g0213 a0002c0008t0003g0019 a0001c0001t0002g0213 a0002c0008t0003g0019	2	294	0.0068	28	c.169 others(45): Show c.1698-191_1698-190insGAAAAAAAAAAAAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18			chr15	TogoVar
CGN_chr1_151506387_151543692	151512639	G G	GAACTAGA others(21): Show GAACTAGAGTCAACCTTAGCTTGGCCCCT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0052 a0001c0001t0007g0052	1	382	0.0026	28	c.-15 others(45): Show c.-15+1125_-15+1152dupAACTAGAGTCAACCTTAGCTTGGCCCCT	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01516.hp2 NA18963.hp1 HG00735.hp1 HG01516.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0006g0302 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0006g0302	3	352	0.0085	28	c.-12 others(45): Show c.-12+1947_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03831.hp2 HG02015.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0009t0002 a0001c0002t0002 a0001c0009t0002	a0001c0002t0002g0079 a0001c0009t0002g0078 a0001c0002t0002g0079 a0001c0009t0002g0078	2	352	0.0057	28	c.-12 others(45): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03927.hp2 NA18959.hp2 others(2): Show HG02572.hp2 HG03927.hp2 NA18959.hp2 NA19010.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0182 a0001c0001t0001g0189 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0206	5	310	0.0161	28	c.369 others(47): Show c.369+19968_369+19995dupACACACACACACACACACACACACAC AC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126859612	C C	CTTGCAGC others(21): Show CTTGCAGCAACCCTGTAAGGTAGATTATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	216	0.0046	28	c.495 others(45): Show c.495+6885_495+6912dupGCAGCAACCCTGTAAGGTAGATTATATT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126910273	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAACAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	216	0.0046	28	c.496 others(45): Show c.496-4385_496-4384insAAAAACAAAAAAAAAAAAACAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0151 a0001c0007t0001g0151	1	418	0.0024	28	c.34 others(39): Show c.3491_*3492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03471.hp2 HG02965.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0079 a0002c0002t0005g0023 a0002c0002t0002g0079 a0002c0002t0005g0023	2	334	0.0060	28	c.54- others(43): Show c.54-6076_54-6049dupATATATATATATATATATATATATATAT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(21): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp2 HG02897.hp2 others(3): Show HG02486.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0012 a0001c0003t0002 a0001c0003t0012	a0001c0003t0002g0002 a0001c0003t0002g0065 a0001c0003t0012g0301 others(2): Show a0001c0003t0002g0002 a0001c0003t0002g0065 a0001c0003t0012g0301 a0001c0003t0012g0302 a0001c0003t0012g0304	6	334	0.0180	28	c.53+ others(43): Show c.53+9034_53+9035insTTTTTTTTTTTTTTTTTTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	324	0.0031	28	c.853 others(45): Show c.853-4721_853-4720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD9_chr16_53049991_53332497	53146413	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19068.hp1 NA19088.hp1 NA18981.hp2 NA19068.hp1 NA19088.hp1	a0001 a0009 a0001 a0009	a0001c0005 a0009c0018 a0001c0005 a0009c0018	a0001c0005t0005 a0009c0018t0005 a0001c0005t0005 a0009c0018t0005	a0001c0005t0005g0135 a0001c0005t0005g0151 a0009c0018t0005g0155 a0001c0005t0005g0135 a0001c0005t0005g0151 a0009c0018t0005g0155	3	238	0.0126	28	c.-16 others(47): Show c.-164-9512_-164-9511insATATATATATATATATATATATATAT AT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01074.hp2 others(8): Show HG00140.hp1 HG00323.hp2 HG01074.hp2 HG01243.hp2 HG02451.hp2 HG02486.hp1 HG02809.hp2 HG03486.hp2 HG03669.hp2 HG04184.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0072 others(8): Show a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0116 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0014t0001g0115	11	238	0.0462	28	c.-16 others(47): Show c.-164-9489_-164-9488insTATATATATATATATATATATATATA TA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp2 others(12): Show HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00621.hp2 HG01109.hp2 HG02135.hp1 HG04115.hp2 NA18962.hp1 NA18972.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19062.hp2 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0002 a0001c0003t0019	a0001c0001t0001g0031 a0001c0001t0001g0058 a0001c0001t0001g0066 others(12): Show a0001c0001t0001g0031 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0015g0166 a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0041 a0001c0003t0002g0047 a0001c0003t0002g0152 a0001c0003t0002g0191 a0001c0003t0002g0224 a0001c0003t0019g0004	15	238	0.0630	28	c.-16 others(47): Show c.-164-9504_-164-9503insGTATATATATATATATATATATATAT AT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp1 HG03540.hp2 HG02630.hp1 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0001 a0001c0001t0003 a0001c0001t0020	a0001c0001t0001g0117 a0001c0001t0003g0112 a0001c0001t0020g0101 a0001c0001t0001g0117 a0001c0001t0003g0112 a0001c0001t0020g0101	3	238	0.0126	28	c.-16 others(47): Show c.-164-9506_-164-9505insGTATATATATATATATATATATATAT AT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146436	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	238	0.0042	28	c.-16 others(47): Show c.-164-9489_-164-9488insTATATATATATATATATATATATATA AA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHEK1_chr11_125620163_125662147	125650840	C C	CTTAAATT others(21): Show CTTAAATTCTGTATACCAAAAACAAAAAA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	384	0.0026	28	c.123 others(47): Show c.1234-2904_1234-2877dupTAAATTCTGTATACCAAAAACAAAAA AT	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CHEK2_chr22_28682743_28746820	28698228	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG02015.hp2 others(4): Show HG00438.hp2 HG00673.hp1 HG02015.hp2 HG02129.hp1 HG04184.hp2 NA18994.hp2 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0363 a0001c0002t0001g0364 others(4): Show a0001c0002t0001g0006 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0368 a0001c0002t0001g0369 a0001c0002t0001g0370	7	384	0.0182	28	c.100 others(47): Show c.1009-1242_1009-1241insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	9/14			chr22	TogoVar
CHGB_chr20_5906510_5930353	5926068	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	440	0.0023	28	c.10 others(39): Show c.1019_*1020insAAAAAAATATATATATATATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		716		chr20	TogoVar
CHIC1_chrX_73558197_73692111	73655430	G G	GTGTATAT others(21): Show GTGTATATATATACATATATACACAATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG02148.hp1 others(2): Show HG01261.hp1 HG01361.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 others(2): Show a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092	5	208	0.0240	28	c.508 others(47): Show c.508-23892_508-23865dupATATATATACATATATACACAATATT GT	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHL1_chr3_191763_414417	194897	A A	ATCCTTCC others(21): Show ATCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0237 a0004c0004t0008g0237	1	290	0.0035	28	c.-23 others(39): Show c.-2341_-2340insTCCTTCCTTCCTTCCTTCCTTCCTTCCT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding		1865		chr3	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG03516.hp1 HG02080.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0112 a0001c0001t0001g0036 a0001c0001t0001g0112	2	245	0.0082	28	c.83 others(39): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85871320	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	245	0.0041	28	c.177 others(47): Show c.1770+1731_1770+1732insCTTTTTTTTTTTTTTTTTTTTTTTTT TT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	245	0.0041	28	c.116 others(47): Show c.1167-2022_1167-1995dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02135.hp1 HG02145.hp1 others(6): Show HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02895.hp1 HG02897.hp1 HG03540.hp2 NA18949.hp1 NA18957.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0003t0005	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0176 others(6): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0176 a0001c0001t0001g0202 a0001c0001t0002g0189 a0001c0001t0003g0135 a0001c0001t0004g0236 a0001c0001t0012g0224 a0001c0003t0005g0227	9	245	0.0367	28	c.116 others(47): Show c.1166+6147_1166+6174dupATATATATATATATATATATATATAT AT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981204	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0199 a0001c0001t0009g0199	1	245	0.0041	28	c.189 others(43): Show c.189+532_189+533insTATATATATATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19240.hp1 HG02145.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0189 a0001c0001t0004g0236 a0001c0001t0002g0189 a0001c0001t0004g0236	2	245	0.0082	28	c.189 others(43): Show c.189+530_189+531insTATATATATATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATTTCT others(21): Show CTATTTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18984.hp1 NA18990.hp1 others(1): Show NA18940.hp1 NA18984.hp1 NA18990.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0066 others(1): Show a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0066 a0001c0002t0002g0073	4	245	0.0163	28	c.189 others(43): Show c.189+530_189+531insTATATATATATATATATATATAGAAATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02040.hp1 NA18991.hp1 HG00558.hp2 HG02040.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0003g0016 a0001c0001t0005g0018 a0001c0001t0009g0017 a0001c0001t0003g0016 a0001c0001t0005g0018 a0001c0001t0009g0017	3	232	0.0129	28	c.49+ others(41): Show c.49+640_49+641insAGAGAGAGAGAGAGAGAGAGAGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	232	0.0043	28	c.49+ others(41): Show c.49+640_49+641insAGAGAGAGAGAGAGAGTGTGTGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29233825	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0081 a0001c0002t0002g0081	1	232	0.0043	28	c.49+ others(45): Show c.49+38861_49+38862insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	232	0.0043	28	c.49+ others(45): Show c.49+57589_49+57616dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273347	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp1 HG02109.hp2 others(3): Show HG00609.hp2 HG01167.hp1 HG02109.hp2 HG02145.hp1 HG04228.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0002c0003t0021 a0002c0004t0007	a0001c0001t0001g0183 a0001c0001t0003g0079 a0001c0001t0005g0133 others(3): Show a0001c0001t0001g0183 a0001c0001t0003g0079 a0001c0001t0005g0133 a0001c0002t0002g0078 a0002c0003t0021g0112 a0002c0004t0007g0084	6	232	0.0259	28	c.49+ others(45): Show c.49+78382_49+78383insGTGTATATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273349	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0013	a0003c0007t0013g0035 a0003c0007t0013g0035	1	232	0.0043	28	c.49+ others(45): Show c.49+78384_49+78385insGTGTATATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273351	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0022 a0001c0001t0007g0022	1	232	0.0043	28	c.49+ others(45): Show c.49+78386_49+78387insGTGTATATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29405212	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0071 a0002c0003t0004g0071	1	232	0.0043	28	c.576 others(45): Show c.576+4394_576+4395insACACACACACACACACAAACACACACAC	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 NA18986.hp1 HG03471.hp1 HG03471.hp2 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0009 a0001c0001t0012 a0002c0004t0006 a0001c0001t0009 a0001c0001t0012 a0002c0004t0006	a0001c0001t0009g0091 a0001c0001t0012g0172 a0002c0004t0006g0113 a0001c0001t0009g0091 a0001c0001t0012g0172 a0002c0004t0006g0113	3	232	0.0129	28	c.577 others(47): Show c.577-37328_577-37327insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18251582	A A	AAAATATT others(21): Show AAAATATTTATTTTATTATTTTAATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02258.hp2 HG02280.hp1 others(8): Show HG00639.hp1 HG02258.hp2 HG02280.hp1 HG02818.hp1 HG02895.hp1 HG03041.hp1 HG03139.hp1 HG03486.hp2 HG03516.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0025 a0001c0002t0008 a0001c0001t0003 a0001c0001t0025 a0001c0002t0008	a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 others(5): Show a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0025g0272 a0001c0002t0008g0014	11	402	0.0274	28	c.80- others(43): Show c.80-4911_80-4910insATTTTAATATATAAATATTTATTTTATT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHP2_chr16_23750026_23763935	23750869	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	28	c.-41 others(39): Show c.-4181_-4180insTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		4156		chr16	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01069.hp1 HG01175.hp1 others(27): Show HG00408.hp2 HG01069.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp1 HG02683.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03669.hp1 NA18939.hp2 NA18969.hp1 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18991.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0002g0005 a0001c0001t0003g0002 a0001c0001t0004g0009 a0001c0001t0005g0002	30	392	0.0765	28	c.17 others(39): Show c.1798_*1799insTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		447		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110689841	A A	ATCTATAT others(21): Show ATCTATATATCTATATATATCTATATATC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0003 a0001c0001t0036g0003	1	172	0.0058	28	c.779 others(45): Show c.779-1066_779-1039dupGATATATAGATATATATAGATATATAGA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689905	C C	CTATATAT others(21): Show CTATATATCTATATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02897.hp1 others(2): Show HG02622.hp2 HG02809.hp2 HG02897.hp1 HG03041.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0041 a0002c0003t0043 others(2): Show a0001c0001t0002 a0002c0003t0041 a0002c0003t0043 a0002c0003t0045 a0002c0003t0047	a0001c0001t0002g0105 a0002c0003t0041g0024 a0002c0003t0043g0016 others(2): Show a0001c0001t0002g0105 a0002c0003t0041g0024 a0002c0003t0043g0016 a0002c0003t0045g0008 a0002c0003t0047g0127	5	172	0.0291	28	c.779 others(45): Show c.779-1130_779-1103dupTAGATATATAGATATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRD_chr3_184375054_184394829	184388245	A A	ATCCATCC others(21): Show ATCCATCCATCCATCCATCCGTCCGTCCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0067 a0002c0010t0001g0067	1	428	0.0023	28	c.255 others(45): Show c.2554+231_2554+232insGTCCGTCCGTCCATCCATCCATCCATCC	CHRD	ENSG00000090539.16	transcript	ENST00000204604.6	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393865	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0010 a0002c0008t0010	a0002c0008t0010g0120 a0002c0008t0010g0120	1	133	0.0075	28	c.-77 others(37): Show c.-771_-770insTAGACACACACACACACACACACACACA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		326		chr15	TogoVar
CHRM1_chr11_62903679_62926363	62924656	C C	CTATATAT others(21): Show CTATATATATATATATATACATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0028	1	420	0.0024	28	c.-35 others(39): Show c.-3518_-3517insTATATATATGTATATATATATATATATA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3294		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	420	0.0024	28	c.-35 others(39): Show c.-3530_-3529insTATATATATATATATAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	420	0.0024	28	c.-35 others(39): Show c.-3530_-3529insTATATATATATAGAGAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM2_chr7_136863652_137025213	136867861	T T	TATATATT others(21): Show TATATATTCTGGATATATATATCCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	320	0.0031	28	c.-14 others(39): Show c.-1414_-1413insATATATTCTGGATATATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		790		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136921794	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01123.hp1 others(8): Show HG00735.hp2 HG01069.hp1 HG01123.hp1 HG01175.hp2 HG01433.hp2 HG01516.hp1 HG02145.hp2 HG04115.hp1 HG06807.hp1 NA18984.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0061	a0001c0001t0001g0007 a0001c0001t0002g0092 a0001c0001t0006g0278 others(8): Show a0001c0001t0001g0007 a0001c0001t0002g0092 a0001c0001t0006g0278 a0001c0001t0007g0088 a0001c0001t0007g0287 a0001c0001t0007g0302 a0001c0001t0007g0316 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0010g0065 a0001c0001t0061g0155	11	320	0.0344	28	c.-12 others(49): Show c.-125+52384_-125+52385insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar

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