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
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18981.hp1 NA18974.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0041 a0001c0001t0004g0035 a0001c0001t0004g0041	2	420	0.0048	37	c.349 others(52): Show c.349-499_349-498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTH2_chr19_49417419_49428441	49427666	A A	ACTCCTGG others(30): Show ACTCCTGGGTCCGAGGGAGGAGGGGCTGGGGGCCTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02451.hp2 others(4): Show HG01884.hp1 HG02109.hp2 HG02451.hp2 HG02723.hp1 HG03130.hp1 HG03209.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 a0001c0001t0001 a0001c0005t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0005t0001g0005 a0003c0003t0001g0003 a0001c0001t0001g0001 a0001c0005t0001g0005 a0003c0003t0001g0003	7	444	0.0158	37	c.-43 others(48): Show c.-4328_-4327insCCCAGGCCCCCAGCCCCTCCTCCCTCGGACCCAG GAG	PTH2	ENSG00000142538.2	transcript	ENST00000270631.2	protein_coding		4226		chr19	TogoVar
PTH2_chr19_49417419_49428441	49427714	C C	CGAGGGAG others(30): Show CGAGGGAGGAGGGGCTGGGGGCCTGGGCTCCTGGGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	37	c.-43 others(48): Show c.-4376_-4375insAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCC CTC	PTH2	ENSG00000142538.2	transcript	ENST00000270631.2	protein_coding		4274		chr19	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	296	0.0034	37	c.-1- others(54): Show c.-1-25726_-1-25725insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	296	0.0034	37	c.-2+ others(54): Show c.-2+19005_-2+19006insATATATATATATATATATATATATTTTT TTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTP4A3_chr8_141387021_141437454	141437022	A A	ATGGGGAG others(30): Show ATGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	323	0.0031	37	c.59 others(48): Show c.5978_*5979insTGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCG CCG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding		4569		chr8	TogoVar
PTPN1_chr20_50505383_50590241	50524569	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	336	0.0030	37	c.63+ others(54): Show c.63+14004_63+14005insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	370	0.0027	37	c.859 others(54): Show c.859-5436_859-5435insATATATATATATATATATTTTTTTTTTT TTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19000.hp1 HG02273.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0356 a0001c0001t0001g0142 a0001c0001t0001g0356	2	370	0.0054	37	c.859 others(54): Show c.859-5436_859-5435insATATATATATATATATATATTTTTTTTT TTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02683.hp2 HG00639.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0170 a0001c0001t0001g0173	2	370	0.0054	37	c.859 others(54): Show c.859-5436_859-5435insATATATATATATATATATATATATTTTT TTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN4_chr2_119754922_119989899	119973655	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03195.hp1 HG02647.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0039 a0001c0001t0005 a0001c0001t0039	a0001c0001t0005g0036 a0001c0001t0039g0037 a0001c0001t0005g0036 a0001c0001t0039g0037	2	252	0.0079	37	c.269 others(56): Show c.2695-3302_2695-3301insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPRA_chr20_2868481_3043669	2910408	G G	GTATATTA others(30): Show GTATATTATATATTATATAATATATAAAATGTATATTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0293 a0002c0002t0001g0293	1	356	0.0028	37	c.-12 others(58): Show c.-128-12788_-128-12787insTTATATAATATATAAAATGTATAT TATATATTATATA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRD_chr9_8309246_10618002	9947387	A A	ATATAATA others(30): Show ATATAATATATATTATATATTATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02683.hp2 others(2): Show HG02055.hp2 HG02257.hp1 HG02683.hp2 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0018	a0001c0001t0022 a0001c0002t0009 a0001c0003t0007 others(2): Show a0001c0001t0022 a0001c0002t0009 a0001c0003t0007 a0001c0006t0026 a0001c0018t0004	a0001c0001t0022g0012 a0001c0002t0009g0017 a0001c0003t0007g0029 others(2): Show a0001c0001t0022g0012 a0001c0002t0009g0017 a0001c0003t0007g0029 a0001c0006t0026g0034 a0001c0018t0004g0020	5	34	0.1471	37	c.-47 others(56): Show c.-471-8778_-471-8777insATATATATTATATATATAATATATAA TATATATTATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61803479	T T	TCATGTTG others(30): Show TCATGTTGTCCATGTTGTCCAACATGGTTCATGTTGTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02109.hp2 HG02145.hp2 others(6): Show HG02027.hp1 HG02109.hp2 HG02145.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG03540.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0002c0003t0001 a0002c0003t0008	a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0002g0035 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0002g0035 a0001c0001t0002g0089 a0001c0001t0003g0012 a0001c0001t0004g0026 a0001c0001t0006g0036 a0002c0003t0001g0067 a0002c0003t0008g0016	9	94	0.0957	37	c.190 others(56): Show c.190+54523_190+54524insTTCATGTTGTCCATGTTGTCCATGTT GTCCAACATGG	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRH_chr19_55176247_55214501	55190492	T T	TTTATATA others(30): Show TTTATATATTATATATTATATATTATATAATTTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02886.hp1 HG03041.hp1 others(2): Show HG01109.hp2 HG02886.hp1 HG03041.hp1 HG03486.hp2 NA18906.hp2	a0003 a0005 a0040 a0003 a0005 a0040	a0003c0071 a0005c0006 a0040c0069 a0003c0071 a0005c0006 a0040c0069	a0003c0071t0004 a0005c0006t0001 a0040c0069t0001 a0003c0071t0004 a0005c0006t0001 a0040c0069t0001	a0003c0071t0004g0110 a0005c0006t0001g0043 a0005c0006t0001g0046 others(2): Show a0003c0071t0004g0110 a0005c0006t0001g0043 a0005c0006t0001g0046 a0005c0006t0001g0066 a0040c0069t0001g0047	5	378	0.0132	37	c.238 others(56): Show c.2384+1008_2384+1009insTATATAAATTATATAATATATAATAT ATAATATATAA	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	12/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208637	T T	TGGGGGTC others(30): Show TGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0125 a0001c0041t0001g0125	1	378	0.0027	37	c.51+ others(50): Show c.51+745_51+746insCAACCTCTCCTCCCTCAAACCAGAGGTCGAGA CCCCC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRO_chr12_15317508_15603331	15549245	G G	GAAATCTG others(30): Show GAAATCTGGTCTTTGGAAGTTCTTTCCATATTTTTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp1 HG02723.hp2 HG02559.hp2 HG02630.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0002t0008 a0001c0001t0003 a0001c0002t0003 a0001c0002t0008	a0001c0001t0003g0030 a0001c0002t0003g0028 a0001c0002t0008g0027 a0001c0001t0003g0030 a0001c0002t0003g0028 a0001c0002t0008g0027	3	164	0.0183	37	c.243 others(52): Show c.2437+19_2437+20insAAATCTGGTCTTTGGAAGTTCTTTCCATAT TTTTTTC	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	14/26			chr12	TogoVar
PTPRT_chr20_42067756_43194906	42086753	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0013 a0002c0015t0001g0013	1	62	0.0161	37	c.384 others(54): Show c.3847-901_3847-900insATATATATATATATATATATATATATAT ATATATATT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42184594	C C	CTTCTTCT others(30): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0041 a0001c0003t0004g0041	1	62	0.0161	37	c.249 others(58): Show c.2491+14645_2491+14646insAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0073 a0001c0004t0002g0073	1	334	0.0030	37	c.364 others(56): Show c.364-10121_364-10120insAAAAAAAAATATATATATATATATAT ATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	358	0.0028	37	c.195 others(56): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	350	0.0029	37	c.22 others(48): Show c.2213_*2214insATATATATATATATATATATATATATATATATAT ATA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar
PVR_chr19_44638910_44671162	44645128	A A	AATATATA others(30): Show AATATATAATATATATTATAATATATAATATGTATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(56): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG01074.hp1 HG01175.hp2 HG01255.hp1 HG01346.hp1 HG01884.hp2 HG02040.hp1 HG02040.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02818.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18522.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18953.hp2 NA18965.hp2 NA18972.hp1 NA18983.hp1 NA18991.hp1 NA18994.hp1 NA19001.hp2 NA19004.hp2 NA19006.hp1 NA19054.hp2 NA19058.hp1 NA19072.hp1 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0009 a0001c0001 a0003c0003 a0008c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(23): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0023 a0001c0001t0028 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0101 a0001c0001t0102 a0001c0001t0105 a0001c0001t0106 a0001c0001t0116 a0003c0003t0007 a0003c0003t0045 a0003c0003t0046 a0003c0003t0107 a0003c0003t0109 a0003c0003t0111 a0003c0003t0112 a0003c0003t0115 a0008c0009t0099	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 others(51): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0007g0058 a0001c0001t0007g0073 a0001c0001t0010g0009 a0001c0001t0010g0015 a0001c0001t0010g0055 a0001c0001t0010g0080 a0001c0001t0010g0083 a0001c0001t0010g0085 a0001c0001t0010g0091 a0001c0001t0010g0092 a0001c0001t0010g0094 a0001c0001t0023g0089 a0001c0001t0028g0057 a0001c0001t0028g0126 a0001c0001t0041g0075 a0001c0001t0042g0009 a0001c0001t0042g0078 a0001c0001t0043g0015 a0001c0001t0046g0095 a0001c0001t0095g0010 a0001c0001t0096g0090 a0001c0001t0097g0010 a0001c0001t0101g0030 a0001c0001t0102g0030 a0001c0001t0105g0099 a0001c0001t0106g0098 a0001c0001t0116g0015 a0003c0003t0007g0033 a0003c0003t0045g0034 a0003c0003t0045g0096 a0003c0003t0046g0097 a0003c0003t0107g0032 a0003c0003t0109g0100 a0003c0003t0111g0032 a0003c0003t0112g0034 a0003c0003t0115g0033 a0008c0009t0099g0087	59	412	0.1432	37	c.79+ others(50): Show c.79+959_79+960insAATATATATTATAATATATAATATGTATATTA TATAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44645128	A A	AATATATT others(30): Show AATATATTATATATATTATAATATATAATATGTATATT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 NA18944.hp1 others(11): Show HG00597.hp2 HG00673.hp2 NA18944.hp1 NA18952.hp1 NA18957.hp2 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18990.hp2 NA19007.hp2 NA19010.hp1 NA19057.hp2 NA19066.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0119 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0007g0117 a0001c0001t0007g0118	14	412	0.0340	37	c.79+ others(50): Show c.79+971_79+972insAATATATAATATGTATATTATATATTATATAT ATTAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44645183	T T	TTATTATT others(30): Show TTATTATTATATATAATATGTATATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01123.hp2 others(56): Show HG00140.hp1 HG00642.hp1 HG01123.hp2 HG01257.hp2 HG01358.hp2 HG01361.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02809.hp2 HG03471.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18989.hp2 NA19001.hp1 NA19002.hp1 NA19010.hp2 NA19054.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19078.hp1 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 others(12): Show a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0016 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0035 a0002c0002t0036 a0002c0002t0061 a0002c0002t0062 a0002c0002t0078 a0002c0002t0079 a0002c0002t0083 a0002c0002t0085	a0002c0002t0004g0002 a0002c0002t0004g0007 a0002c0002t0004g0019 others(35): Show a0002c0002t0004g0002 a0002c0002t0004g0007 a0002c0002t0004g0019 a0002c0002t0004g0040 a0002c0002t0004g0135 a0002c0002t0004g0138 a0002c0002t0004g0140 a0002c0002t0004g0142 a0002c0002t0004g0145 a0002c0002t0006g0002 a0002c0002t0006g0007 a0002c0002t0006g0008 a0002c0002t0006g0019 a0002c0002t0006g0041 a0002c0002t0006g0132 a0002c0002t0006g0136 a0002c0002t0006g0141 a0002c0002t0008g0054 a0002c0002t0008g0134 a0002c0002t0008g0143 a0002c0002t0008g0146 a0002c0002t0008g0156 a0002c0002t0016g0002 a0002c0002t0016g0008 a0002c0002t0016g0041 a0002c0002t0016g0144 a0002c0002t0019g0133 a0002c0002t0019g0137 a0002c0002t0021g0008 a0002c0002t0022g0002 a0002c0002t0035g0002 a0002c0002t0036g0139 a0002c0002t0061g0157 a0002c0002t0062g0007 a0002c0002t0078g0002 a0002c0002t0079g0040 a0002c0002t0083g0131 a0002c0002t0085g0064	59	412	0.1432	37	c.79+ others(52): Show c.79+1014_79+1015insTATATATAATATGTATATTATATATTATAT ATATTAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44667732	A A	ATATATAT others(30): Show ATATATATAATATATAAATTATATAAATTATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0172 a0001c0004t0026g0172	1	412	0.0024	37	c.59 others(48): Show c.5921_*5922insTATATATAATATATAAATTATATAAATTATATAT ATT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1571		chr19	TogoVar
PVR_chr19_44638910_44671162	44668554	T T	TTATACAC others(30): Show TTATACACATATTATATATGTATATAATTATATAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0029 a0004c0012t0029	a0004c0012t0029g0162 a0004c0012t0029g0162	1	412	0.0024	37	c.67 others(48): Show c.6743_*6744insTATACACATATTATATATGTATATAATTATATAA TTA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2393		chr19	TogoVar
PVR_chr19_44638910_44671162	44668559	T T	TACATATT others(30): Show TACATATTATATATGTATATAATTATATAATTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01168.hp1 others(10): Show HG00280.hp1 HG01070.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG02809.hp2 HG02896.hp2 HG03041.hp1 HG04228.hp2 NA19080.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 others(6): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0033 a0001c0001t0075 a0002c0002t0083 a0004c0007t0029 a0004c0007t0056	a0001c0001t0002g0006 a0001c0001t0013g0183 a0001c0001t0015g0012 others(8): Show a0001c0001t0002g0006 a0001c0001t0013g0183 a0001c0001t0015g0012 a0001c0001t0015g0195 a0001c0001t0015g0196 a0001c0001t0020g0012 a0001c0001t0033g0197 a0001c0001t0075g0012 a0002c0002t0083g0131 a0004c0007t0029g0163 a0004c0007t0056g0164	13	412	0.0316	37	c.67 others(48): Show c.6748_*6749insACATATTATATATGTATATAATTATATAATTATA TAC	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2398		chr19	TogoVar
PXDNL_chr8_51314577_51814445	51599773	T T	TCTTATAT others(30): Show TCTTATATAAATGATATCGTTTATATAATAAATTATAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0002 a0016c0010t0002	a0016c0010t0002g0108 a0016c0010t0002g0108	1	122	0.0082	37	c.237 others(54): Show c.237-7076_237-7075insGTATAATTTATTATATAAACGATATCAT TTATATAAG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51599787	T T	TATCGTTT others(30): Show TATCGTTTAGATAATAAATTATACCTTATATAAATGAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03130.hp2 HG06807.hp1 HG02735.hp2 HG03130.hp2 HG06807.hp1	a0011 a0016 a0025 a0011 a0016 a0025	a0011c0017 a0016c0010 a0025c0034 a0011c0017 a0016c0010 a0025c0034	a0011c0017t0001 a0016c0010t0002 a0025c0034t0002 a0011c0017t0001 a0016c0010t0002 a0025c0034t0002	a0011c0017t0001g0075 a0016c0010t0002g0108 a0025c0034t0002g0122 a0011c0017t0001g0075 a0016c0010t0002g0108 a0025c0034t0002g0122	3	122	0.0246	37	c.237 others(54): Show c.237-7126_237-7090dupGTCATTTATATAAGGTATAATTTATTAT CTAAACGAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51599791	G G	GTTTAGAT others(30): Show GTTTAGATAATAAATTATACCTTATATAAATGACATCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0019 a0019	a0019c0047 a0019c0047	a0019c0047t0001 a0019c0047t0001	a0019c0047t0001g0074 a0019c0047t0001g0074	1	122	0.0082	37	c.237 others(54): Show c.237-7094_237-7093insTGATGTCATTTATATAAGGTATAATTTA TTATCTAAA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51599948	A A	ATAAATTA others(30): Show ATAAATTATACCTTATATAAATGACATCGTTTAGATAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19030.hp1 HG01192.hp2 NA19030.hp1	a0003 a0020 a0003 a0020	a0003c0005 a0020c0035 a0003c0005 a0020c0035	a0003c0005t0003 a0020c0035t0003 a0003c0005t0003 a0020c0035t0003	a0003c0005t0003g0010 a0020c0035t0003g0011 a0003c0005t0003g0010 a0020c0035t0003g0011	2	122	0.0164	37	c.237 others(54): Show c.237-7251_237-7250insGTATCTAAACGATGTCATTTATATAAGG TATAATTTA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51600181	T T	TATATAAA others(30): Show TATATAAATTATATCGTTTAGATAATAAATTATATCTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01192.hp2 HG02735.hp2 others(2): Show HG00673.hp2 HG01192.hp2 HG02735.hp2 NA19030.hp1 NA19086.hp2	a0003 a0005 a0016 others(2): Show a0003 a0005 a0016 a0020 a0023	a0003c0005 a0005c0018 a0016c0010 others(2): Show a0003c0005 a0005c0018 a0016c0010 a0020c0035 a0023c0029	a0003c0005t0003 a0005c0018t0001 a0016c0010t0002 others(2): Show a0003c0005t0003 a0005c0018t0001 a0016c0010t0002 a0020c0035t0003 a0023c0029t0001	a0003c0005t0003g0010 a0005c0018t0001g0085 a0016c0010t0002g0108 others(2): Show a0003c0005t0003g0010 a0005c0018t0001g0085 a0016c0010t0002g0108 a0020c0035t0003g0011 a0023c0029t0001g0055	5	122	0.0410	37	c.237 others(54): Show c.237-7520_237-7484dupGAGATATAATTTATTATCTAAACGATAT AATTTATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51600330	A A	ATATAAAT others(30): Show ATATAAATTATATCGTTTAGATAATAAATTATATCTTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp1 HG03130.hp2 HG03209.hp1	a0011 a0019 a0011 a0019	a0011c0017 a0019c0047 a0011c0017 a0019c0047	a0011c0017t0001 a0019c0047t0001 a0011c0017t0001 a0019c0047t0001	a0011c0017t0001g0075 a0019c0047t0001g0074 a0011c0017t0001g0075 a0019c0047t0001g0074	2	122	0.0164	37	c.237 others(54): Show c.237-7669_237-7633dupCAAGATATAATTTATTATCTAAACGATA TAATTTATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51600529	A A	ATTTAGAT others(30): Show ATTTAGATAATAAATTATATCTTATATAAATTATATCG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01192.hp2 HG02735.hp2 others(7): Show HG00673.hp2 HG01192.hp2 HG02735.hp2 HG03492.hp2 HG03516.hp1 NA18948.hp2 NA18979.hp1 NA19003.hp1 NA19030.hp1 NA19086.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0011 a0016 a0020 a0023	a0001c0001 a0003c0003 a0003c0005 others(5): Show a0001c0001 a0003c0003 a0003c0005 a0005c0018 a0011c0017 a0016c0010 a0020c0035 a0023c0029	a0001c0001t0001 a0003c0003t0001 a0003c0005t0003 others(5): Show a0001c0001t0001 a0003c0003t0001 a0003c0005t0003 a0005c0018t0001 a0011c0017t0001 a0016c0010t0002 a0020c0035t0003 a0023c0029t0001	a0001c0001t0001g0019 a0001c0001t0001g0032 a0003c0003t0001g0079 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0032 a0003c0003t0001g0079 a0003c0003t0001g0082 a0003c0005t0003g0010 a0005c0018t0001g0085 a0011c0017t0001g0054 a0016c0010t0002g0108 a0020c0035t0003g0011 a0023c0029t0001g0055	10	122	0.0820	37	c.237 others(54): Show c.237-7868_237-7832dupCGATATAATTTATATAAGATATAATTTA TTATCTAAA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PYM1_chr12_55896413_55932894	55905892	T T	TTATATAT others(30): Show TTATATATATCTATTAGATATATATAATATATTAGATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	344	0.0029	37	c.38- others(52): Show c.38-2413_38-2412insTATCTAATATATTATATATATCTAATAGAT ATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATATA others(30): Show TATATATAACATATATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	442	0.0023	37	c.120 others(54): Show c.120+2326_120+2327insACATATATATATATATAACATATATATA ACATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATATA others(30): Show TATATATATAACATATATATATAACATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0245 a0001c0003t0001g0245	1	442	0.0023	37	c.120 others(54): Show c.120+2355_120+2391dupACATATATATAACATATATATATAACAT ATATATATA	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(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	226	0.0044	37	c.133 others(56): Show c.1339-3003_1339-3002insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9			chr3	TogoVar
QRICH2_chr17_76269049_76313276	76310740	G G	GATTATAG others(30): Show GATTATAGGCGTGAGCCACCACACCTAGACTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0228 a0008c0010t0001g0228	1	364	0.0028	37	c.-27 others(48): Show c.-2743_-2742insAAAAAAAAGTCTAGGTGTGGTGGCTCACGCCTAT AAT	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding		2465		chr17	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0288 a0002c0003t0002g0288	1	336	0.0030	37	c.213 others(56): Show c.2132-1205_2132-1204insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
R3HDM4_chr19_891503_918219	891879	G G	GGGGGCTG others(30): Show GGGGGCTGAGTGTGACGGGGAACACCTGTGGCCGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA19091.hp2 NA18970.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	2	432	0.0046	37	c.55 others(48): Show c.5521_*5557dupGCCTCGGCCACAGGTGTTCCCCGTCACACTCAGC CCC	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		4623		chr19	TogoVar
RAB11FIP4_chr17_31386675_31543211	31505622	T T	TATAATAA others(30): Show TATAATAATTATATAATAATAATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0047 a0001c0001t0015g0047	1	310	0.0032	37	c.337 others(56): Show c.337-12024_337-12023insAATTATATAATAATAATTATATATAA TATATAATAAT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB15_chr14_64940816_64977336	64973893	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01515.hp1 HG01433.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0191 a0001c0001t0006g0258 a0001c0001t0003g0191 a0001c0001t0006g0258	2	382	0.0052	37	c.-18 others(48): Show c.-1818_-1817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding		1558		chr14	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03209.hp1 HG02895.hp1 HG02897.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0008 a0001c0001t0004 a0002c0002t0008	a0001c0001t0004g0052 a0002c0002t0008g0013 a0002c0002t0008g0090 a0001c0001t0004g0052 a0002c0002t0008g0013 a0002c0002t0008g0090	3	410	0.0073	37	c.84 others(48): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar
RAB1A_chr2_65081854_65135106	65103299	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0072 a0001c0001t0001g0077	2	340	0.0059	37	c.96+ others(52): Show c.96+1434_96+1435insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB3C_chr5_58578075_58864394	58596825	T T	TACATATA others(30): Show TACATATAAACATATAATAATATATAATGCATAATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0133 a0001c0001t0011g0133	1	220	0.0046	37	c.24+ others(54): Show c.24+13594_24+13595insCATATAAACATATAATAATATATAATGC ATAATATAA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0010 a0001c0001t0083g0010	1	382	0.0026	37	c.37 others(48): Show c.3792_*3793insATATATATATATATATATTTTTTTTTTTTTTTTT TTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(30): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0010 a0001c0001t0078g0010	1	382	0.0026	37	c.37 others(48): Show c.3792_*3793insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB6A_chr11_73670638_73766074	73739278	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	354	0.0028	37	c.71- others(52): Show c.71-8456_71-8455insATATATATATATATATATATATATATATAT ATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar

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