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
PTPN9_chr15_75458251_75584315	75530748	A A	ATATAATA others(20): Show ATATAATATAATATATTATTATAATTAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	326	0.0031	27	c.64- others(42): Show c.64-3514_64-3488dupATAATTATAATAATATATTATATTATA	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0321 a0001c0001t0044g0321	1	326	0.0031	27	c.64- others(44): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRD_chr9_8309246_10618002	8421370	T T	TTCTCTTC others(20): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19240.hp1 HG02683.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0016 a0001c0006 a0004c0016	a0001c0006t0026 a0004c0016t0020 a0001c0006t0026 a0004c0016t0020	a0001c0006t0026g0034 a0004c0016t0020g0011 a0001c0006t0026g0034 a0004c0016t0020g0011	2	34	0.0588	27	c.408 others(48): Show c.4086+15221_4086+15222insGAAGAGAAGAGAAGAGAAGAGAAG AGA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	35/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9413100	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0015 a0001c0004t0018g0015	1	34	0.0294	27	c.-23 others(48): Show c.-236-15619_-236-15618insAAAAAAAAAAAAAAAAAAAAAAAA AAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	8/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9976689	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0019 a0001c0005t0001g0019	1	34	0.0294	27	c.-47 others(48): Show c.-471-38080_-471-38079insTTTTTTTTTTTTTTTTTTTTTTTT TTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9998127	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0031 a0001c0003t0023g0031	1	34	0.0294	27	c.-47 others(48): Show c.-472+35590_-472+35591insATATATATATATATATATATATAT ATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10065141	T T	TGAAAGAA others(20): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0020 a0004c0016t0020	a0004c0016t0020g0011 a0004c0016t0020g0011	1	34	0.0294	27	c.-54 others(48): Show c.-544-31352_-544-31351insTTCTTTCTTTCTTTCTTTCTTTCT TTC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10504115	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	34	0.0294	27	c.-60 others(50): Show c.-600+108282_-600+108283insTTTTTTTTTTTTTTTTTTTTTT TTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61676456	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0022 a0001c0005t0009g0022	1	94	0.0106	27	c.86- others(44): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAAAAAAAAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61676471	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01255.hp2 HG03669.hp2 HG01169.hp1 HG01255.hp2 HG03669.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0010 a0001c0001 a0003c0004 a0005c0010	a0001c0001t0001 a0003c0004t0013 a0005c0010t0002 a0001c0001t0001 a0003c0004t0013 a0005c0010t0002	a0001c0001t0001g0018 a0003c0004t0013g0054 a0005c0010t0002g0058 a0001c0001t0001g0018 a0003c0004t0013g0054 a0005c0010t0002g0058	3	94	0.0319	27	c.86- others(44): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAAAAAAGAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61870487	T T	TTTTTTTT others(20): Show TTTTTTTTGTATTTTTAGTAGAGATGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	94	0.0106	27	c.191 others(48): Show c.191-119131_191-119130insGTATTTTTAGTAGAGATGGATTTT TTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61894301	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0076 a0003c0004t0007g0076	1	94	0.0106	27	c.191 others(46): Show c.191-95317_191-95291dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02922.hp1 NA21309.hp2 HG01169.hp2 HG02922.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0033 a0003c0004t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0033 a0003c0004t0001g0002	3	94	0.0319	27	c.376 others(42): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRK_chr6_127963785_128525599	128369139	T T	TTATCCTG others(20): Show TTATCCTGAAAGTACATTTATACACTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00639.hp1 others(45): Show HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03942.hp1 HG03942.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp1 NA18959.hp2 NA18970.hp1 NA18970.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0002c0008	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(19): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0007t0001 a0001c0007t0006 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0002 a0001c0014t0007 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(45): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0008g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0026 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0002g0025 a0001c0003t0001g0024 a0001c0003t0001g0035 a0001c0003t0002g0029 a0001c0003t0004g0053 a0001c0004t0001g0006 a0001c0004t0001g0017 a0001c0004t0002g0010 a0001c0004t0002g0022 a0001c0004t0005g0002 a0001c0005t0001g0014 a0001c0005t0001g0019 a0001c0005t0003g0028 a0001c0006t0001g0031 a0001c0006t0001g0050 a0001c0007t0001g0047 a0001c0007t0006g0001 a0001c0009t0001g0015 a0001c0010t0001g0044 a0001c0011t0001g0043 a0001c0012t0001g0049 a0001c0013t0002g0045 a0001c0014t0007g0005 a0002c0008t0001g0020	48	53	0.9057	27	c.223 others(46): Show c.223+28426_223+28427insTCAGTGTATAAATGTACTTTCAGGAT A	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	2/29			chr6	TogoVar
PTPRT_chr20_42067756_43194906	42086753	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0036 a0001c0002t0006g0036	1	62	0.0161	27	c.384 others(44): Show c.3847-901_3847-900insATATATATATATATATATATATATATT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42184535	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0062 a0001c0007t0004g0062	1	62	0.0161	27	c.249 others(48): Show c.2491+14704_2491+14705insAGAAGAAGAAGAAGAAGAAGAAGA AGA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42184541	C C	CTCTTCCT others(20): Show CTCTTCCTCTTCCTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0061 a0001c0007t0001g0061	1	62	0.0161	27	c.249 others(48): Show c.2491+14698_2491+14699insAGAAGAAGAAGAAGAGGAAGAGGA AGA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42184541	C C	CTCTTCCT others(20): Show CTCTTCCTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0035 a0001c0030t0001g0035	1	62	0.0161	27	c.249 others(48): Show c.2491+14698_2491+14699insAGAAGAAGAAGAAGAAGAAGAGGA AGA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42569081	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0010 a0002c0005t0012g0010	1	62	0.0161	27	c.115 others(48): Show c.1154-96520_1154-96519insATATATATATATATATATATATTT TTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	334	0.0030	27	c.364 others(46): Show c.364-10121_364-10120insAAATATATATATATATATATATATAT A	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	334	0.0030	27	c.364 others(46): Show c.364-10121_364-10120insAAAAAAAAAAATATATATATATATAT A	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0082 a0003c0012t0002g0082	1	334	0.0030	27	c.364 others(46): Show c.364-10121_364-10120insAAAAAAAAAAAAAAATATATATATAT A	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	358	0.0028	27	c.195 others(44): Show c.1958-908_1958-907insATATATATATATATATATATATATATA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02080.hp2 NA19011.hp1 others(1): Show HG01243.hp2 HG02080.hp2 NA19011.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0250	4	358	0.0112	27	c.195 others(46): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT T	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	350	0.0029	27	c.-32 others(42): Show c.-32-667_-32-641dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PVALB_chr22_36795703_36822035	36821788	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	421	0.0024	27	c.-47 others(38): Show c.-4784_-4783insAAAAAAAAAAAAAAAAAAAAAAAAAAA	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		4754		chr22	TogoVar
PVR_chr19_44638910_44671162	44667786	A A	ATATATAT others(20): Show ATATATATAAATTATATAATTTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01361.hp2 NA19006.hp1 others(1): Show HG01358.hp2 HG01361.hp2 NA19006.hp1 NA19054.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0009 a0001c0001 a0002c0002 a0008c0009	a0001c0001t0001 a0002c0002t0035 a0008c0009t0099 a0001c0001t0001 a0002c0002t0035 a0008c0009t0099	a0001c0001t0001g0031 a0002c0002t0035g0002 a0008c0009t0099g0087 a0001c0001t0001g0031 a0002c0002t0035g0002 a0008c0009t0099g0087	4	412	0.0097	27	c.59 others(38): Show c.5975_*5976insTATATATAAATTATATAATTTATATAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1625		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132403862	G G	GGTGGGCA others(20): Show GGTGGGCAGGGAGGACCTTCCAGGGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp1 others(81): Show HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp2 HG02040.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18961.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp2 NA19000.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19083.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0011 a0001c0014 others(7): Show a0001c0001 a0001c0011 a0001c0014 a0001c0021 a0001c0023 a0002c0002 a0003c0004 a0003c0005 a0003c0019 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0011t0001 a0001c0014t0001 a0001c0021t0001 a0001c0023t0001 a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 a0003c0019t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0017 others(55): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0158 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0003g0234 a0001c0001t0012g0199 a0001c0011t0001g0051 a0001c0011t0001g0223 a0001c0014t0001g0179 a0001c0014t0001g0222 a0001c0021t0001g0180 a0001c0023t0001g0246 a0002c0002t0001g0053 a0002c0002t0001g0188 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0211 a0002c0002t0001g0233 a0002c0002t0001g0241 a0003c0004t0001g0051 a0003c0005t0001g0008 a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0083 a0003c0005t0001g0160 a0003c0005t0001g0161 a0003c0005t0001g0164 a0003c0005t0001g0167 a0003c0005t0001g0207 a0003c0005t0001g0257 a0003c0019t0001g0095 a0004c0006t0001g0030 a0004c0006t0001g0154 a0004c0006t0001g0191	84	374	0.2246	27	c.126 others(42): Show c.126-756_126-755insGGAGGACCTTCCAGGGTGTGTGGGCAG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PXMP2_chr12_132682587_132709985	132705501	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0080 a0001c0004t0002g0080	1	350	0.0029	27	c.81 others(36): Show c.814_*815insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		517		chr12	TogoVar
PXN_chr12_120205447_120270730	120265770	C C	CCGCGCGC others(20): Show CCGCGCGCGCCCGCGCCCGCGCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	324	0.0031	27	c.-14 others(36): Show c.-142_-141insCGGCGGGCGCGGGCGCGGGCGCGCGCG	PXN	ENSG00000089159.17	transcript	ENST00000637617.2	protein_coding		41		chr12	TogoVar
PYDC2_chr3_191456163_191466456	191463055	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	434	0.0023	27	c.15 others(38): Show c.1599_*1600insTTCTTTCTTTCTTTCTTTCTTTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1600		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463063	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	434	0.0023	27	c.16 others(38): Show c.1607_*1608insTTCTTTCTTTCTTTCTTTCTTTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1608		chr3	TogoVar
PYGM_chr11_64741398_64764974	64743748	C C	CGCGCCAA others(20): Show CGCGCCAAGGGTGGCCGGTGGGTGCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG03486.hp2 HG02451.hp1 HG02572.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	3	350	0.0086	27	c.28 others(38): Show c.2884_*2910dupCATGCACCCACCGGCCACCCTTGGCGC	PYGM	ENSG00000068976.14	transcript	ENST00000164139.4	protein_coding		2649		chr11	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0023 a0001c0001t0010g0023	1	412	0.0024	27	c.49+ others(44): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYROXD1_chr12_21432655_21476250	21457811	A A	ATCCAGTC others(20): Show ATCCAGTCACCTCCCACCAGGCCGTACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(226): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0007 a0001c0001 a0001c0006 a0004c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0006t0004 a0004c0007t0004	a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0012 others(120): Show a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0139 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0046 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0004g0024 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0063 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0111 a0001c0001t0005g0008 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0132 a0001c0001t0005g0141 a0001c0001t0015g0009 a0001c0001t0015g0012 a0001c0001t0015g0058 a0001c0001t0017g0041 a0001c0001t0018g0003 a0001c0001t0019g0004 a0001c0001t0019g0025 a0001c0001t0020g0002 a0001c0001t0023g0140 a0001c0001t0024g0043 a0001c0001t0026g0008 a0001c0001t0027g0026 a0001c0001t0029g0060 a0001c0001t0030g0070 a0001c0001t0031g0040 a0001c0001t0032g0023 a0001c0001t0034g0003 a0001c0006t0004g0024 a0004c0007t0004g0110	229	416	0.5505	27	c.750 others(44): Show c.750+1721_750+1747dupGTCACCTCCCACCAGGCCGTACCTCCA	PYROXD1	ENSG00000121350.16	transcript	ENST00000240651.14	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYROXD1_chr12_21432655_21476250	21457825	C C	CACCAGGC others(20): Show CACCAGGCCGTACCTCCAGTCACCTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0057 a0001c0001t0033g0057	1	416	0.0024	27	c.750 others(44): Show c.750+1747_750+1748insGTCACCTCCTACCAGGCCGTACCTCCA	PYROXD1	ENSG00000121350.16	transcript	ENST00000240651.14	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYROXD1_chr12_21432655_21476250	21464256	T T	TAGGCCCC others(20): Show TAGGCCCCATTTCTTGGCTTACACAAGC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0060 a0001c0001t0029g0060	1	416	0.0024	27	c.111 others(46): Show c.1116+1396_1116+1422dupGGCCCCATTTCTTGGCTTACACAAGC A	PYROXD1	ENSG00000121350.16	transcript	ENST00000240651.14	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATCATAT others(20): Show TATCATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG02451.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	2	442	0.0045	27	c.120 others(44): Show c.120+2321_120+2322insCATATATATATAACATATATATAACAT	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRICH1_chr3_49024707_49099071	49050248	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	226	0.0044	27	c.133 others(46): Show c.1339-3003_1339-3002insTTTTTTTTTTTTTTTTTTTTTTTTTT T	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9			chr3	TogoVar
QSOX2_chr9_136201333_136250812	136208291	T T	TGGAGGGT others(20): Show TGGAGGGTGCAGGGAGGGCCAAGGTGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00735.hp2 others(41): Show HG00280.hp1 HG00609.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03942.hp1 HG04199.hp1 NA18906.hp2 NA18988.hp2 NA19000.hp2 NA19030.hp2 NA19058.hp2 NA19078.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0017 a0002c0003 a0003c0010	a0001c0001t0012 a0001c0001t0013 a0001c0001t0023 others(17): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0098 a0001c0001t0100 a0001c0002t0014 a0001c0004t0027 a0001c0004t0049 a0001c0017t0013 a0002c0003t0041 a0002c0003t0099 a0003c0010t0032	a0001c0001t0012g0036 a0001c0001t0012g0222 a0001c0001t0012g0229 others(36): Show a0001c0001t0012g0036 a0001c0001t0012g0222 a0001c0001t0012g0229 a0001c0001t0012g0235 a0001c0001t0012g0236 a0001c0001t0013g0023 a0001c0001t0013g0024 a0001c0001t0013g0185 a0001c0001t0023g0274 a0001c0001t0023g0295 a0001c0001t0023g0326 a0001c0001t0024g0323 a0001c0001t0024g0324 a0001c0001t0024g0325 a0001c0001t0031g0209 a0001c0001t0031g0305 a0001c0001t0033g0186 a0001c0001t0033g0210 a0001c0001t0034g0206 a0001c0001t0034g0208 a0001c0001t0060g0188 a0001c0001t0061g0287 a0001c0001t0062g0190 a0001c0001t0063g0207 a0001c0001t0098g0216 a0001c0001t0100g0327 a0001c0002t0014g0010 a0001c0002t0014g0041 a0001c0002t0014g0042 a0001c0002t0014g0043 a0001c0002t0014g0044 a0001c0004t0027g0135 a0001c0004t0027g0136 a0001c0004t0049g0133 a0001c0017t0013g0180 a0002c0003t0041g0252 a0002c0003t0041g0308 a0002c0003t0099g0218 a0003c0010t0032g0031	44	392	0.1122	27	c.43 others(36): Show c.436_*437insCCCACCTTGGCCCTCCCTGCACCCTCC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	12/12	436		chr9	TogoVar
QSOX2_chr9_136201333_136250812	136237032	T T	TGTCCTGG others(20): Show TGTCCTGGGCCGGTGTCACCTGGTGCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0264 a0002c0003t0002g0264	1	392	0.0026	27	c.328 others(44): Show c.328+8443_328+8444insGGGCACCAGGTGACACCGGCCCAGGAC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136237125	A A	ATCCTGGG others(20): Show ATCCTGGGCCGGCGTCACCTGGAGCCCG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04199.hp2 HG03704.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0006g0276 a0001c0001t0006g0277	2	392	0.0051	27	c.328 others(44): Show c.328+8324_328+8350dupCGGGCTCCAGGTGACGCCGGCCCAGGA	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136237456	A A	ATCCTGTG others(20): Show ATCCTGTGCCGGCAACACCTGGAGCCCG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	392	0.0026	27	c.328 others(44): Show c.328+8019_328+8020insCGGGCTCCAGGTGTTGCCGGCACAGGA	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136237456	A A	ATCCTGTG others(20): Show ATCCTGTGCCGGCGACACCTGGAGCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(93): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01069.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18998.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19054.hp2 NA19057.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0015 a0001c0023 a0008c0018	a0001c0001t0008 a0001c0001t0042 a0001c0001t0050 others(27): Show a0001c0001t0008 a0001c0001t0042 a0001c0001t0050 a0001c0001t0101 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0036 a0001c0002t0070 a0001c0002t0076 a0001c0002t0077 a0001c0002t0079 a0001c0002t0085 a0001c0002t0091 a0001c0002t0096 a0001c0004t0003 a0001c0005t0001 a0001c0005t0008 a0001c0005t0010 a0001c0005t0068 a0001c0006t0009 a0001c0008t0059 a0001c0015t0067 a0001c0023t0051 a0008c0018t0001	a0001c0001t0008g0199 a0001c0001t0008g0201 a0001c0001t0008g0203 others(84): Show a0001c0001t0008g0199 a0001c0001t0008g0201 a0001c0001t0008g0203 a0001c0001t0042g0331 a0001c0001t0042g0332 a0001c0001t0050g0202 a0001c0001t0101g0333 a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0048 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0173 a0001c0002t0001g0179 a0001c0002t0002g0174 a0001c0002t0004g0068 a0001c0002t0004g0100 a0001c0002t0005g0040 a0001c0002t0005g0064 a0001c0002t0005g0073 a0001c0002t0005g0090 a0001c0002t0005g0092 a0001c0002t0005g0095 a0001c0002t0005g0097 a0001c0002t0005g0099 a0001c0002t0005g0104 a0001c0002t0005g0105 a0001c0002t0006g0081 a0001c0002t0019g0083 a0001c0002t0019g0084 a0001c0002t0019g0085 a0001c0002t0020g0175 a0001c0002t0021g0022 a0001c0002t0021g0176 a0001c0002t0021g0178 a0001c0002t0036g0057 a0001c0002t0036g0060 a0001c0002t0070g0061 a0001c0002t0076g0098 a0001c0002t0077g0070 a0001c0002t0079g0108 a0001c0002t0085g0071 a0001c0002t0091g0082 a0001c0002t0096g0177 a0001c0004t0003g0109 a0001c0005t0001g0205 a0001c0005t0008g0200 a0001c0005t0008g0204 a0001c0005t0010g0026 a0001c0005t0010g0194 a0001c0005t0010g0196 a0001c0005t0010g0197 a0001c0005t0068g0195 a0001c0006t0009g0015 a0001c0006t0009g0080 a0001c0008t0059g0045 a0001c0015t0067g0091 a0001c0023t0051g0322 a0008c0018t0001g0181	96	392	0.2449	27	c.328 others(44): Show c.328+7993_328+8019dupCGGGCTCCAGGTGTCGCCGGCACAGGA	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136240933	G G	GCAGTGCT others(20): Show GCAGTGCTTATGACCTGGGTCACCCCAT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0099 a0002c0003t0099	a0002c0003t0099g0218 a0002c0003t0099g0218	1	392	0.0026	27	c.328 others(44): Show c.328+4516_328+4542dupATGGGGTGACCCAGGTCATAAGCACTG	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
R3HCC1L_chr10_98129657_98249897	98183958	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0003 a0003c0012t0003	a0003c0012t0003g0158 a0003c0012t0003g0158	1	388	0.0026	27	c.-15 others(46): Show c.-15+20576_-15+20577insTTTTTTTTTTTTTTTTTTTTTTTTTT T	R3HCC1L	ENSG00000166024.14	transcript	ENST00000298999.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02280.hp1 HG01167.hp2 HG01169.hp2 HG02280.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0286 a0002c0003t0002g0124 a0002c0003t0002g0126 a0001c0001t0001g0286 a0002c0003t0002g0124 a0002c0003t0002g0126	3	336	0.0089	27	c.213 others(46): Show c.2132-1205_2132-1204insTTTTTTTTTTTTTTTTTTTTTTTTTT T	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAGAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	336	0.0030	27	c.213 others(46): Show c.2132-1205_2132-1204insTTTTCTTTTTTTTTTTTTTTTTTTTT T	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
RAB15_chr14_64940816_64977336	64973893	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02109.hp1 HG01123.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0006 a0001c0001t0016	a0001c0001t0006g0259 a0001c0001t0016g0034 a0001c0001t0006g0259 a0001c0001t0016g0034	2	382	0.0052	27	c.-18 others(38): Show c.-1818_-1817insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding		1558		chr14	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG02132.hp2 HG02523.hp2 others(1): Show HG01943.hp2 HG02132.hp2 HG02523.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0057 a0001c0001t0003g0202 a0001c0001t0003g0210 others(1): Show a0001c0001t0003g0057 a0001c0001t0003g0202 a0001c0001t0003g0210 a0001c0001t0004g0214	4	410	0.0098	27	c.84 others(38): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar

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