JoGo: Joint Open Genome and Omics Platform

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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CFAP61_chr20_20047532_20365698	20355616	G G	GGGGAGGT others(31): Show GGGGAGGTGGTCACACTGTGAGAGGGGAGGTGACCACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0108 a0002c0002t0005g0108	1	236	0.0042	38	c.351 others(57): Show c.3514-4594_3514-4593insGGGAGGTGGTCACACTGTGAGAGGGG AGGTGACCACAC		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26						chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356226	A A	AGTCACAC others(31): Show AGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0211 a0001c0003t0001g0211	1	236	0.0042	38	c.351 others(57): Show c.3514-3969_3514-3968insAGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGA		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356955	G G	GTGTGAGG others(31): Show GTGTGAGGGGAGGTGGTCACACTGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02970.hp1 others(1): Show HG02572.hp2 HG02896.hp1 HG02970.hp1 HG03195.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0008	a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 a0004c0008t0001	a0001c0001t0001g0078 a0001c0003t0004g0004 a0002c0002t0001g0136 others(1): Show a0001c0001t0001g0078 a0001c0003t0004g0004 a0002c0002t0001g0136 a0004c0008t0001g0135	4	236	0.0170	38	c.351 others(57): Show c.3514-3231_3514-3194dupGGGAGGTGGTCACACTGTGAGGGGAG GTGGTCACACTG		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357207	A A	AGTCACAC others(31): Show AGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(39): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02071.hp2 HG02135.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02615.hp1 HG02683.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03453.hp2 HG03579.hp1 HG04228.hp2 NA18942.hp2 NA18951.hp1 NA18955.hp2 NA18969.hp2 NA19007.hp1 NA19081.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010 a0014 a0015 a0020	a0001c0001 a0001c0003 a0001c0007 others(14): Show a0001c0001 a0001c0003 a0001c0007 a0001c0015 a0001c0024 a0001c0045 a0002c0002 a0002c0004 a0002c0009 a0003c0005 a0004c0008 a0007c0010 a0008c0020 a0010c0016 a0014c0031 a0015c0047 a0020c0040	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0003t0003 a0001c0007t0002 a0001c0015t0002 a0001c0024t0008 a0001c0045t0002 a0002c0002t0002 a0002c0004t0002 a0002c0004t0003 a0002c0009t0002 a0003c0005t0002 a0004c0008t0002 a0007c0010t0003 a0008c0020t0002 a0010c0016t0002 a0014c0031t0002 a0015c0047t0002 a0020c0040t0002	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(39): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0091 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0158 a0001c0001t0002g0180 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0003g0060 a0001c0001t0003g0095 a0001c0001t0006g0019 a0001c0003t0003g0175 a0001c0007t0002g0077 a0001c0007t0002g0084 a0001c0015t0002g0233 a0001c0024t0008g0176 a0001c0045t0002g0074 a0002c0002t0002g0071 a0002c0002t0002g0081 a0002c0002t0002g0182 a0002c0002t0002g0195 a0002c0002t0002g0227 a0002c0004t0002g0087 a0002c0004t0003g0207 a0002c0009t0002g0104 a0002c0009t0002g0106 a0003c0005t0002g0068 a0004c0008t0002g0166 a0007c0010t0003g0130 a0008c0020t0002g0123 a0010c0016t0002g0044 a0010c0016t0002g0165 a0014c0031t0002g0043 a0015c0047t0002g0168 a0020c0040t0002g0160	42	236	0.1780	38	c.351 others(57): Show c.3514-2988_3514-2987insAGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGA		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357546	A A	AGTCACAC others(31): Show AGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20905.hp1 HG03579.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0158 a0001c0001t0002g0075 a0001c0001t0002g0158	2	236	0.0085	38	c.351 others(57): Show c.3514-2649_3514-2648insAGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGA		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357793	G G	GAGGAGAG others(31): Show GAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18969.hp1 NA19090.hp1 NA18955.hp1 NA18969.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012 a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012	3	236	0.0127	38	c.351 others(57): Show c.3514-2417_3514-2416insAGGAGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACAC		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26						chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357833	G G	GAGGGGAG others(31): Show GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0015 a0001c0003t0004g0015	1	236	0.0042	38	c.351 others(57): Show c.3514-2377_3514-2376insAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACAC		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26						chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357854	G G	GAGGAGAG others(31): Show GAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18969.hp1 NA19090.hp1 NA18955.hp1 NA18969.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012 a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012	3	236	0.0127	38	c.351 others(57): Show c.3514-2356_3514-2355insAGGAGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACAC		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26						chr20	TogoVar
CFDP1_chr16_75288710_75438503	75349680	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	314	0.0032	38	c.651 others(57): Show c.651-44499_651-44498insATATATATATATATATATATATATAT ATATATATATAT		CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6						chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19055.hp2 NA18947.hp1 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0085 a0001c0002t0006g0311 a0001c0002t0001g0085 a0001c0002t0006g0311	2	314	0.0064	38	c.651 others(57): Show c.651-44503_651-44502insATATATATATATATATATATATATAT ATATATATATAT		CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6						chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	314	0.0032	38	c.651 others(57): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATATATATATAT		CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6						chr16	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01099.hp1 others(4): Show HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01175.hp2 HG01346.hp1 HG01928.hp2 HG02300.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0001 a0005c0007t0001 a0001c0002t0001 a0005c0007t0001	a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 others(4): Show a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0108 a0005c0007t0001g0070	7	354	0.0198	38	c.58- others(55): Show c.58-16989_58-16988insATATATATATATATATATATATATATAT ATATATATAT		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12						chr4	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18968.hp1 NA18985.hp2 HG04184.hp2 NA18968.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0175 a0001c0001t0001g0253 a0001c0004t0001g0252 a0001c0001t0001g0175 a0001c0001t0001g0253 a0001c0004t0001g0252	3	352	0.0085	38	c.-12 others(55): Show c.-12+1937_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA		CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5						chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	352	0.0028	38	c.-12 others(55): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA		CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5						chr2	TogoVar
CHCHD6_chr3_126699240_126965420	126792225	T T	TTAGAATA others(31): Show TTAGAATATATATTCTAATATAGAATATATATTCTAATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	216	0.0046	38	c.411 others(57): Show c.411+59014_411+59051dupATTCTAATATAGAATATATATTCTAA TATAGAATATAT		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	216	0.0046	38	c.412 others(57): Show c.412-28066_412-28065insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	324	0.0031	38	c.853 others(55): Show c.853-4721_853-4720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36						chr20	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	238	0.0042	38	c.-16 others(57): Show c.-164-9489_-164-9488insTATATATATATATATATATATATATA TATATATATATA		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(31): Show GTATGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02970.hp2 NA18955.hp1 others(1): Show HG01099.hp1 HG02970.hp2 NA18955.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0010 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0010 a0001c0003t0013	a0001c0001t0001g0110 a0001c0003t0002g0029 a0001c0003t0010g0006 others(1): Show a0001c0001t0001g0110 a0001c0003t0002g0029 a0001c0003t0010g0006 a0001c0003t0013g0186	4	238	0.0168	38	c.-16 others(57): Show c.-164-9504_-164-9503insGTATATATATATATATATATATATAT ATATATATATAT		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(31): Show GTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03579.hp2 NA19043.hp1 HG00597.hp1 HG03579.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0003 a0005c0007t0009 a0001c0001t0003 a0005c0007t0009	a0001c0001t0003g0096 a0001c0001t0003g0222 a0005c0007t0009g0076 a0001c0001t0003g0096 a0001c0001t0003g0222 a0005c0007t0009g0076	3	238	0.0126	38	c.-16 others(57): Show c.-164-9506_-164-9505insGTATATATATATATATATATATATAT ATATATATATAT		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHFR_chr12_132827356_132892605	132839934	C C	CGCCCCTG others(31): Show CGCCCCTGCACTAACTCGGGACCTCCCCTTCTCAGCCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0004 a0001c0010 others(12): Show a0001c0001 a0001c0004 a0001c0010 a0001c0015 a0001c0016 a0002c0002 a0002c0007 a0002c0011 a0002c0013 a0003c0003 a0003c0008 a0004c0006 a0005c0009 a0006c0014 a0007c0012	a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 others(95): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0023 a0001c0001t0033 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0119 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0004t0003 a0001c0004t0007 a0001c0004t0017 a0001c0004t0018 a0001c0004t0022 a0001c0004t0034 a0001c0004t0035 a0001c0004t0036 a0001c0004t0056 a0001c0004t0057 a0001c0004t0058 a0001c0004t0059 a0001c0004t0060 a0001c0010t0033 a0001c0015t0003 a0001c0016t0017 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0048 a0002c0002t0049 a0002c0002t0120 a0002c0002t0121 a0002c0002t0122 a0002c0002t0123 a0002c0002t0125 a0002c0002t0126 a0002c0002t0127 a0002c0002t0128 a0002c0002t0129 a0002c0002t0130 a0002c0002t0132 a0002c0002t0133 a0002c0002t0136 a0002c0002t0137 a0002c0002t0138 a0002c0002t0139 a0002c0002t0140 a0002c0002t0141 a0002c0002t0142 a0002c0007t0002 a0002c0011t0124 a0002c0013t0005 a0003c0003t0001 a0003c0003t0013 a0003c0003t0019 a0003c0003t0020 a0003c0003t0037 a0003c0003t0061 a0003c0003t0062 a0003c0003t0063 a0003c0003t0064 a0003c0003t0065 a0003c0003t0066 a0003c0003t0067 a0003c0003t0068 a0003c0003t0069 a0003c0008t0019 a0004c0006t0031 a0004c0006t0032 a0004c0006t0131 a0004c0006t0134 a0004c0006t0135 a0005c0009t0054 a0005c0009t0055 a0006c0014t0002 a0007c0012t0071	a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 others(248): Show a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0145 a0001c0001t0006g0147 a0001c0001t0006g0150 a0001c0001t0006g0152 a0001c0001t0009g0005 a0001c0001t0009g0030 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0012g0002 a0001c0001t0012g0123 a0001c0001t0012g0125 a0001c0001t0012g0148 a0001c0001t0012g0168 a0001c0001t0023g0001 a0001c0001t0033g0129 a0001c0001t0033g0149 a0001c0001t0050g0130 a0001c0001t0050g0136 a0001c0001t0051g0146 a0001c0001t0051g0153 a0001c0001t0052g0169 a0001c0001t0052g0170 a0001c0001t0053g0141 a0001c0001t0053g0151 a0001c0001t0070g0178 a0001c0001t0072g0352 a0001c0001t0073g0032 a0001c0001t0074g0034 a0001c0001t0119g0035 a0001c0001t0143g0124 a0001c0001t0144g0127 a0001c0001t0145g0312 a0001c0001t0146g0131 a0001c0001t0147g0133 a0001c0001t0148g0143 a0001c0001t0149g0142 a0001c0001t0150g0144 a0001c0001t0151g0140 a0001c0001t0152g0154 a0001c0001t0153g0155 a0001c0004t0003g0003 a0001c0004t0003g0011 a0001c0004t0003g0188 a0001c0004t0003g0189 a0001c0004t0003g0190 a0001c0004t0003g0191 a0001c0004t0003g0194 a0001c0004t0003g0197 a0001c0004t0003g0198 a0001c0004t0003g0199 a0001c0004t0003g0200 a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0204 a0001c0004t0003g0225 a0001c0004t0003g0226 a0001c0004t0003g0227 a0001c0004t0003g0228 a0001c0004t0003g0231 a0001c0004t0007g0012 a0001c0004t0007g0215 a0001c0004t0007g0216 a0001c0004t0007g0217 a0001c0004t0007g0218 a0001c0004t0007g0219 a0001c0004t0007g0224 a0001c0004t0017g0220 a0001c0004t0017g0221 a0001c0004t0017g0222 a0001c0004t0018g0086 a0001c0004t0018g0208 a0001c0004t0018g0209 a0001c0004t0018g0212 a0001c0004t0022g0193 a0001c0004t0022g0203 a0001c0004t0022g0229 a0001c0004t0034g0195 a0001c0004t0034g0196 a0001c0004t0035g0210 a0001c0004t0035g0213 a0001c0004t0036g0206 a0001c0004t0036g0207 a0001c0004t0056g0211 a0001c0004t0057g0214 a0001c0004t0058g0187 a0001c0004t0059g0192 a0001c0004t0060g0230 a0001c0010t0033g0128 a0001c0015t0003g0205 a0001c0016t0017g0223 a0002c0002t0002g0009 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0055 a0002c0002t0002g0062 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0122 a0002c0002t0004g0006 a0002c0002t0004g0054 a0002c0002t0004g0070 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0077 a0002c0002t0004g0108 a0002c0002t0004g0110 a0002c0002t0004g0111 a0002c0002t0004g0120 a0002c0002t0004g0165 a0002c0002t0004g0166 a0002c0002t0005g0008 a0002c0002t0005g0071 a0002c0002t0005g0087 a0002c0002t0005g0088 a0002c0002t0005g0090 a0002c0002t0005g0092 a0002c0002t0005g0093 a0002c0002t0005g0099 a0002c0002t0005g0107 a0002c0002t0005g0112 a0002c0002t0005g0114 a0002c0002t0028g0056 a0002c0002t0028g0057 a0002c0002t0028g0060 a0002c0002t0029g0078 a0002c0002t0029g0097 a0002c0002t0029g0167 a0002c0002t0030g0101 a0002c0002t0030g0102 a0002c0002t0030g0103 a0002c0002t0045g0007 a0002c0002t0046g0082 a0002c0002t0046g0083 a0002c0002t0047g0010 a0002c0002t0048g0040 a0002c0002t0048g0044 a0002c0002t0049g0042 a0002c0002t0049g0043 a0002c0002t0120g0091 a0002c0002t0121g0061 a0002c0002t0122g0058 a0002c0002t0123g0109 a0002c0002t0125g0066 a0002c0002t0126g0117 a0002c0002t0127g0076 a0002c0002t0128g0051 a0002c0002t0129g0119 a0002c0002t0130g0095 a0002c0002t0132g0047 a0002c0002t0133g0041 a0002c0002t0136g0085 a0002c0002t0137g0067 a0002c0002t0138g0089 a0002c0002t0139g0063 a0002c0002t0140g0096 a0002c0002t0141g0084 a0002c0002t0142g0068 a0002c0007t0002g0064 a0002c0007t0002g0069 a0002c0011t0124g0059 a0002c0013t0005g0121 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0329 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0337 a0003c0003t0001g0339 a0003c0003t0001g0340 a0003c0003t0001g0341 a0003c0003t0001g0342 a0003c0003t0001g0343 a0003c0003t0001g0344 a0003c0003t0001g0353 a0003c0003t0001g0354 a0003c0003t0001g0355 a0003c0003t0001g0356 a0003c0003t0013g0021 a0003c0003t0013g0022 a0003c0003t0013g0024 a0003c0003t0013g0025 a0003c0003t0013g0026 a0003c0003t0013g0027 a0003c0003t0019g0346 a0003c0003t0019g0351 a0003c0003t0020g0319 a0003c0003t0020g0320 a0003c0003t0020g0322 a0003c0003t0020g0324 a0003c0003t0037g0347 a0003c0003t0037g0348 a0003c0003t0061g0020 a0003c0003t0062g0029 a0003c0003t0063g0345 a0003c0003t0064g0028 a0003c0003t0065g0023 a0003c0003t0066g0338 a0003c0003t0067g0336 a0003c0003t0068g0321 a0003c0003t0069g0323 a0003c0008t0019g0349 a0003c0008t0019g0350 a0004c0006t0031g0161 a0004c0006t0031g0162 a0004c0006t0031g0163 a0004c0006t0032g0156 a0004c0006t0032g0159 a0004c0006t0032g0160 a0004c0006t0131g0158 a0004c0006t0134g0157 a0004c0006t0135g0164 a0005c0009t0054g0118 a0005c0009t0055g0106 a0006c0014t0002g0049 a0007c0012t0071g0019	265	378	0.7011	38	c.16 others(49): Show c.1619_*1620insAAGGCTGAGAAGGGGAGGTCCCGAGTTAGTGCAG GGGC		CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18				1619		chr12	TogoVar
CHFR_chr12_132827356_132892605	132839951	G G	GGGACCTC others(31): Show GGGACCTCCCCTTCTCAGCCTTGCCCCTGCACTAACTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(95): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00741.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03209.hp1 HG03516.hp2 NA18522.hp2 NA18747.hp2 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19083.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 others(51): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118	a0001c0001t0008g0013 a0001c0001t0008g0240 a0001c0001t0008g0256 others(87): Show a0001c0001t0008g0013 a0001c0001t0008g0240 a0001c0001t0008g0256 a0001c0001t0008g0266 a0001c0001t0008g0286 a0001c0001t0008g0304 a0001c0001t0008g0306 a0001c0001t0010g0038 a0001c0001t0010g0236 a0001c0001t0010g0258 a0001c0001t0010g0259 a0001c0001t0010g0277 a0001c0001t0010g0289 a0001c0001t0010g0310 a0001c0001t0011g0014 a0001c0001t0011g0243 a0001c0001t0011g0248 a0001c0001t0011g0264 a0001c0001t0011g0287 a0001c0001t0011g0290 a0001c0001t0014g0004 a0001c0001t0014g0278 a0001c0001t0014g0279 a0001c0001t0014g0280 a0001c0001t0015g0235 a0001c0001t0015g0244 a0001c0001t0015g0247 a0001c0001t0015g0294 a0001c0001t0015g0298 a0001c0001t0015g0300 a0001c0001t0016g0234 a0001c0001t0016g0249 a0001c0001t0016g0250 a0001c0001t0016g0251 a0001c0001t0016g0302 a0001c0001t0025g0242 a0001c0001t0025g0255 a0001c0001t0025g0262 a0001c0001t0026g0016 a0001c0001t0026g0271 a0001c0001t0027g0015 a0001c0001t0027g0307 a0001c0001t0040g0253 a0001c0001t0040g0265 a0001c0001t0041g0257 a0001c0001t0041g0305 a0001c0001t0042g0275 a0001c0001t0042g0276 a0001c0001t0043g0017 a0001c0001t0044g0018 a0001c0001t0079g0245 a0001c0001t0080g0237 a0001c0001t0081g0252 a0001c0001t0082g0246 a0001c0001t0083g0272 a0001c0001t0084g0292 a0001c0001t0085g0285 a0001c0001t0086g0299 a0001c0001t0087g0281 a0001c0001t0088g0269 a0001c0001t0089g0282 a0001c0001t0090g0039 a0001c0001t0091g0065 a0001c0001t0092g0239 a0001c0001t0093g0284 a0001c0001t0094g0270 a0001c0001t0095g0295 a0001c0001t0096g0293 a0001c0001t0097g0283 a0001c0001t0098g0296 a0001c0001t0099g0238 a0001c0001t0100g0297 a0001c0001t0101g0303 a0001c0001t0102g0308 a0001c0001t0103g0274 a0001c0001t0104g0309 a0001c0001t0105g0273 a0001c0001t0106g0291 a0001c0001t0107g0241 a0001c0001t0108g0254 a0001c0001t0109g0301 a0001c0001t0110g0263 a0001c0001t0111g0260 a0001c0001t0112g0233 a0001c0001t0113g0261 a0001c0001t0114g0288 a0001c0001t0115g0267 a0001c0001t0116g0311 a0001c0001t0117g0232 a0001c0001t0118g0268	98	378	0.2593	38	c.16 others(49): Show c.1602_*1603insGGAGTTAGTGCAGGGGCAAGGCTGAGAAGGGGAG GTCC		CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18				1602		chr12	TogoVar
CHI3L2_chr1_111222713_111248440	111236137	G G	GCCCCCCC others(31): Show GCCCCCCCCCCCCCCCCCTCCCCCCCCCCCTCCCCCCCC	frameshift_variant frameshift_variant	HIGH	NA19030.hp1 NA19030.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0003 a0010c0014t0003	a0010c0014t0003g0092 a0010c0014t0003g0092	1	434	0.0023	38	c.720 others(45): Show c.720_721insCCCCCCCCCCCCCCCCTCCCCCCCCCCCTCCCCCCCCC	p.Ser others(5): Show p.Ser241fs	CHI3L2	ENSG00000064886.14	transcript	ENST00000369748.9	protein_coding	7/11	738/1416	721/1173	241/390		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHIA_chr1_111285851_111325563	111286739	G G	GATAGTTG others(31): Show GATAGTTGGACATAACATTTTTAGAGGTAGTTGGTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03139.hp2 HG02145.hp1 HG03139.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0008 a0005c0005t0001g0008	2	426	0.0047	38	c.-42 others(49): Show c.-4280_-4279insATAGTTGGACATAACATTTTTAGAGGTAGTTGGT ATTT		CHIA	ENSG00000134216.19	transcript	ENST00000369740.6	protein_coding					4111		chr1	TogoVar
CHIA_chr1_111285851_111325563	111322957	G G	GGGGGTGG others(31): Show GGGGGTGGGGGTGGGAGAGGGGGTGGGGTGGCAAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	426	0.0024	38	c.24 others(49): Show c.2491_*2492insGGGGTGGGGGTGGGAGAGGGGGTGGGGTGGCAAG GGGT		CHIA	ENSG00000134216.19	transcript	ENST00000369740.6	protein_coding					2395		chr1	TogoVar
CHID1_chr11_862859_915810	893928	C C	CTTGGCCA others(31): Show CTTGGCCAACATGGCGAAACCCCGCCTCTACTAAAAACA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	386	0.0026	38	c.609 others(53): Show c.609-447_609-410dupTGTTTTTAGTAGAGGCGGGGTTTCGCCATG TTGGCCAA		CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	7/12						chr11	TogoVar
CHM_chrX_85856180_86052558	85981204	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0245 a0001c0001t0018g0245	1	245	0.0041	38	c.189 others(53): Show c.189+532_189+533insTATATATATATATATATATATATATATATA TATATATA		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14						chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATTTCT others(31): Show CTATTTCTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 NA18967.hp1 others(3): Show HG01167.hp1 HG01169.hp1 NA18967.hp1 NA18969.hp1 NA19010.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0047 a0001c0002t0001g0058 a0001c0002t0001g0067 others(3): Show a0001c0001t0001g0047 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0002g0048 a0001c0002t0002g0052 a0001c0002t0002g0065	6	245	0.0245	38	c.189 others(53): Show c.189+530_189+531insTATATATATATATATATATATATATATATA TAGAAATA		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14						chrX	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19005.hp2 NA18984.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0006 a0001c0002t0002g0007 a0001c0001t0005g0006 a0001c0002t0002g0007	2	232	0.0086	38	c.49+ others(51): Show c.49+640_49+641insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG TGTGTG		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273326	C C	CATATATA others(31): Show CATATATATATATATATATGTGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01169.hp2 HG00140.hp1 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0034	3	232	0.0129	38	c.49+ others(55): Show c.49+78350_49+78351insATATGTGTATATATATATATATATATAT ATATATATAT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29472281	A A	ACACACAC others(31): Show ACACACACACACACACACACGCACACACACACACACACG	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	232	0.0043	38	c.577 others(55): Show c.577-7981_577-7980insACGCACACACACACACACACGCACACAC ACACACACAC		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29472281	A A	ACACACAC others(31): Show ACACACACACACACACACGCACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0193	1	232	0.0043	38	c.577 others(55): Show c.577-7968_577-7967insCACACACGCACACACACACACACACGCA CACACACACA		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29472283	A A	ACACACAC others(31): Show ACACACACACACACACGCACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02886.hp1 HG03195.hp2 others(3): Show HG02273.hp2 HG02886.hp1 HG03195.hp2 HG03209.hp1 HG06807.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0006 a0001c0001t0012 a0001c0002t0007 others(1): Show a0001c0001t0006 a0001c0001t0012 a0001c0002t0007 a0003c0007t0013	a0001c0001t0006g0036 a0001c0001t0006g0145 a0001c0001t0006g0217 others(3): Show a0001c0001t0006g0036 a0001c0001t0006g0145 a0001c0001t0006g0217 a0001c0001t0012g0170 a0001c0002t0007g0152 a0003c0007t0013g0035	6	232	0.0259	38	c.577 others(55): Show c.577-7968_577-7967insCACACACACGCACACACACACACACGCA CACACACACA		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTCTTCTT others(31): Show CTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	392	0.0026	38	c.17 others(49): Show c.1798_*1799insTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT		CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding					447		chr16	TogoVar
CHP2_chr16_23750026_23763935	23759422	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	392	0.0026	38	c.18 others(49): Show c.1839_*1840insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC		CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding					488		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110689915	A A	ATCTATAT others(31): Show ATCTATATATATCTATATATCTATATATCTATATATATC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02895.hp1 HG02897.hp2 others(3): Show HG01106.hp1 HG02895.hp1 HG02897.hp2 HG03471.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0049	a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 others(3): Show a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0004g0038 a0001c0002t0007g0165 a0001c0002t0049g0039	6	172	0.0349	38	c.779 others(55): Show c.779-1113_779-1112insGATATATATAGATATATAGATATATAGA TATATATAGA		CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11						chrX	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393857	C C	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0080 a0001c0007t0001g0080	1	133	0.0075	38	c.-76 others(47): Show c.-763_-762insCACACACACACACACACACACACACACACACACACA CA		CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding					318		chr15	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393865	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03453.hp2 HG03041.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0059 a0002c0002t0004g0063 a0002c0002t0004g0059 a0002c0002t0004g0063	2	133	0.0150	38	c.-77 others(47): Show c.-771_-770insTAGACACACACACACACACACACACACACACACACA CA		CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding					326		chr15	TogoVar
CHRM2_chr7_136863652_137025213	136867962	T T	TATATATA others(31): Show TATATATATATATATTCTGGATATATATATATATTCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01168.hp2 HG01496.hp2 others(6): Show HG01099.hp2 HG01168.hp2 HG01496.hp2 HG02055.hp1 HG02572.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0020 a0001c0001t0032 others(6): Show a0001c0001t0016 a0001c0001t0020 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079	a0001c0001t0016g0112 a0001c0001t0020g0102 a0001c0001t0032g0111 others(6): Show a0001c0001t0016g0112 a0001c0001t0020g0102 a0001c0001t0032g0111 a0001c0001t0033g0113 a0001c0001t0034g0110 a0001c0001t0075g0106 a0001c0001t0076g0109 a0001c0001t0077g0107 a0001c0001t0079g0101	9	320	0.0281	38	c.-13 others(49): Show c.-1313_-1312insATATATATATATATTCTGGATATATATATATATT CTGG		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding					689		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136875076	T T	TACACATA others(31): Show TACACATATATACATATATACACATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0317 a0001c0001t0039g0317	1	320	0.0031	38	c.-12 others(57): Show c.-125+5678_-125+5715dupCACATATATACATATATACACACATA TATACATATATA		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239407417	T T	TATATATA others(31): Show TATATATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	116	0.0086	38	c.-52 others(59): Show c.-521+20191_-521+20192insTATATATATATATATATATATATA TAGAGAGAGAGAGA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239684748	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA20129.hp2 HG03831.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0064 a0001c0001t0013g0078 a0001c0001t0004g0064 a0001c0001t0013g0078	2	116	0.0172	38	c.-14 others(57): Show c.-147+6461_-147+6462insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239684748	G G	GAGAAAAA others(31): Show GAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03209.hp2 HG01106.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0020 a0001c0001t0006 a0001c0001t0020	a0001c0001t0006g0044 a0001c0001t0020g0036 a0001c0001t0006g0044 a0001c0001t0020g0036	2	116	0.0172	38	c.-14 others(57): Show c.-147+6465_-147+6466insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239684770	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19068.hp1 HG01346.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0047 a0001c0001t0004g0016 a0001c0001t0003g0047 a0001c0001t0004g0016	2	116	0.0172	38	c.-14 others(57): Show c.-147+6483_-147+6484insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHST15_chr10_124002668_124098598	124045112	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	392	0.0026	38	c.547 others(53): Show c.547-194_547-193insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	2/7						chr10	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	254	0.0039	38	c.131 others(57): Show c.131-13890_131-13889insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33765070	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	254	0.0039	38	c.131 others(55): Show c.131-6340_131-6339insATATATATATATATATATATATATATAT ATGTATGTAT		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY3_chr5_129899465_130191634	130143810	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	276	0.0036	38	c.108 others(59): Show c.1087-40394_1087-40393insGTGTGTATATATATATATATATAT ATATATATATATAT		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130143810	G G	GTGTATAT others(31): Show GTGTATATATATATATATATATATATGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	276	0.0036	38	c.108 others(59): Show c.1087-40418_1087-40417insGTATATATATATATATATATATAT GTGTGTATATATAT		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
CHTOP_chr1_153629066_153651306	153651168	T T	TATAGATA others(31): Show TATAGATATATAGATATATATAGATATATAGATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02723.hp1 HG03209.hp1 HG01891.hp1 HG02723.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0010 a0001c0001t0011g0058 a0001c0001t0001g0010 a0001c0001t0011g0058	3	372	0.0081	38	c.58 others(49): Show c.5899_*5900insATAGATATATAGATATATATAGATATATAGATAT ATAG		CHTOP	ENSG00000160679.14	transcript	ENST00000368694.8	protein_coding					4863		chr1	TogoVar

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