Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DDX4_chr5_55733061_55822157	55783633	A A	AGATGGAT others(9): Show AGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18972.hp2 NA18961.hp2 NA18972.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0191 a0002c0003t0001g0204 a0002c0003t0001g0191 a0002c0003t0001g0204	2	346	0.0058	16	c.626 others(33): Show c.626-1635_626-1620dupGATGGATGGATGGATG	DDX4	ENSG00000152670.19	transcript	ENST00000505374.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
DDX50_chr10_68896315_68951847	68925095	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0182 a0001c0006t0001g0183 a0001c0006t0001g0182 a0001c0006t0001g0183	2	334	0.0060	16	c.123 others(35): Show c.1239+5124_1239+5139dupTTTTTTTTTTTTTTTT	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68929251	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02683.hp1 HG02735.hp1 others(8): Show HG01074.hp2 HG02683.hp1 HG02735.hp1 HG03688.hp2 HG03710.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA19062.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0025 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0012t0001g0070	11	334	0.0329	16	c.124 others(35): Show c.1240-4920_1240-4905dupTCCTTCCTTCCTTCCT	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68931418	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG03139.hp1 others(1): Show HG01884.hp2 HG02717.hp1 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0260 others(1): Show a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0260 a0001c0001t0001g0262	4	334	0.0120	16	c.124 others(35): Show c.1240-2780_1240-2779insCACACACACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68931422	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02602.hp1 HG02630.hp2 HG00741.hp2 HG02602.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0002t0001g0302 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0002t0001g0302	3	334	0.0090	16	c.124 others(35): Show c.1240-2776_1240-2775insCACACACACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68931424	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00639.hp2 others(31): Show HG00408.hp2 HG00558.hp2 HG00639.hp2 HG01074.hp2 HG01109.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02300.hp1 HG02451.hp2 HG02683.hp1 HG02735.hp1 HG02896.hp2 HG02970.hp2 HG03710.hp1 NA18747.hp2 NA18939.hp2 NA18946.hp2 NA18952.hp2 NA18960.hp2 NA18975.hp2 NA18995.hp1 NA18997.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19084.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0002t0001g0263	34	334	0.1018	16	c.124 others(35): Show c.1240-2774_1240-2773insCACACACACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68931426	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG04115.hp1 HG00621.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0115 a0001c0001t0001g0078 a0001c0001t0001g0115	2	334	0.0060	16	c.124 others(35): Show c.1240-2768_1240-2767insCACACACACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68931426	T T	TATACACA others(9): Show TATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00558.hp1 others(38): Show HG00099.hp2 HG00280.hp1 HG00558.hp1 HG00597.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01943.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02258.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02965.hp2 HG03239.hp1 HG03516.hp2 HG03710.hp2 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18961.hp2 NA18965.hp2 NA18984.hp2 NA18990.hp2 NA18997.hp2 NA19003.hp2 NA19068.hp2 NA19084.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0001c0008 others(2): Show a0001c0001 a0001c0007 a0001c0008 a0001c0014 a0004c0009	a0001c0001t0001 a0001c0007t0001 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0007t0001 a0001c0008t0001 a0001c0014t0001 a0004c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0093 a0001c0001t0001g0103 others(37): Show a0001c0001t0001g0004 a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0259 a0001c0007t0001g0125 a0001c0007t0001g0149 a0001c0008t0001g0091 a0001c0008t0001g0124 a0001c0014t0001g0111 a0004c0009t0001g0095	41	334	0.1228	16	c.124 others(35): Show c.1240-2772_1240-2771insTACACACACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX52_chr17_37604739_37648446	37616662	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 NA19030.hp1 HG02258.hp2 HG02970.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0020 a0002c0002t0015g0049 a0002c0002t0015g0020 a0002c0002t0015g0049	3	411	0.0073	16	c.174 others(35): Show c.1742+1629_1742+1630insTTTTTTTTTTTTTTTT	DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding	14/14			chr17	TogoVar
DDX52_chr17_37604739_37648446	37647226	T T	TATAGATA others(9): Show TATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02056.hp1 HG02071.hp2 others(27): Show HG00735.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp1 HG02132.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG04184.hp1 NA18612.hp1 NA18941.hp1 NA18942.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18967.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18992.hp1 NA19000.hp2 NA19005.hp1 NA19058.hp1 NA19074.hp1 NA19080.hp2 NA19087.hp2 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0011 others(5): Show a0002c0002t0001 a0002c0002t0009 a0002c0002t0011 a0002c0002t0016 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0091	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0011 others(19): Show a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0209 a0002c0002t0001g0213 a0002c0002t0001g0218 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0242 a0002c0002t0009g0214 a0002c0002t0009g0228 a0002c0002t0011g0013 a0002c0002t0016g0241 a0002c0002t0063g0223 a0002c0002t0064g0210 a0002c0002t0065g0212 a0002c0002t0091g0275	30	411	0.0730	16	c.-38 others(27): Show c.-3807_-3806insCTATCTATCTATCTAT	DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding		3781		chr17	TogoVar
DDX52_chr17_37604739_37648446	37647230	T T	TATAGATA others(9): Show TATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18946.hp2 NA18949.hp2 others(15): Show NA18939.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18969.hp1 NA18999.hp1 NA19009.hp1 NA19054.hp2 NA19057.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19086.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0023 others(1): Show a0002c0002t0001 a0002c0002t0009 a0002c0002t0023 a0002c0002t0032	a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0019 others(6): Show a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0038 a0002c0002t0001g0215 a0002c0002t0001g0230 a0002c0002t0009g0225 a0002c0002t0023g0205 a0002c0002t0032g0224	18	411	0.0438	16	c.-38 others(27): Show c.-3811_-3810insCTATCTATCTATCTAT	DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding		3785		chr17	TogoVar
DDX55_chr12_123597099_123625943	123620580	T T	TTATATAT others(9): Show TTATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0039 a0001c0001t0053g0039	1	304	0.0033	16	c.47 others(25): Show c.473_*488dupTATATATATATATATA	DDX55	ENSG00000111364.16	transcript	ENST00000238146.9	protein_coding	14/14	489	INFO_REALIGN_3_PRIME	chr12	TogoVar
DDX56_chr7_44560804_44578908	44562854	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG06807.hp1 HG02486.hp2 HG02622.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0069 a0001c0002t0002g0020 a0001c0002t0002g0069	3	406	0.0074	16	c.31 others(27): Show c.3147_*3148insTTTTTTTTTTTTTTTT	DDX56	ENSG00000136271.11	transcript	ENST00000258772.10	protein_coding		2949		chr7	TogoVar
DDX59_chr1_200639037_200674907	200674111	C C	CTGAATGA others(9): Show CTGAATGAATGAATGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01123.hp1 HG01258.hp2 others(1): Show HG01074.hp1 HG01123.hp1 HG01258.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0001 a0001c0001t0003g0243 a0001c0001t0005g0026 a0001c0001t0003g0001 a0001c0001t0003g0243 a0001c0001t0005g0026	4	390	0.0103	16	c.-43 others(27): Show c.-4357_-4356insTTCATTCATTCATTCA	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding		4205		chr1	TogoVar
DDX60L_chr4_168351735_168485492	168422999	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03225.hp2 HG02109.hp2 HG03225.hp2	a0010 a0017 a0010 a0017	a0010c0044 a0017c0035 a0010c0044 a0017c0035	a0010c0044t0002 a0017c0035t0001 a0010c0044t0002 a0017c0035t0001	a0010c0044t0002g0072 a0017c0035t0001g0093 a0010c0044t0002g0072 a0017c0035t0001g0093	2	268	0.0075	16	c.209 others(33): Show c.2098-330_2098-329insTACACACACACACACA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	15/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168454758	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG02896.hp1 others(4): Show HG01884.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp2	a0004 a0010 a0020 others(1): Show a0004 a0010 a0020 a0050	a0004c0011 a0010c0024 a0020c0023 others(1): Show a0004c0011 a0010c0024 a0020c0023 a0050c0066	a0004c0011t0001 a0010c0024t0002 a0020c0023t0001 others(1): Show a0004c0011t0001 a0010c0024t0002 a0020c0023t0001 a0050c0066t0001	a0004c0011t0001g0112 a0010c0024t0002g0119 a0010c0024t0002g0120 others(4): Show a0004c0011t0001g0112 a0010c0024t0002g0119 a0010c0024t0002g0120 a0020c0023t0001g0075 a0020c0023t0001g0077 a0020c0023t0001g0078 a0050c0066t0001g0123	7	268	0.0261	16	c.837 others(33): Show c.837+1265_837+1280dupAAAAAAAAAAAAAAAA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168455272	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01891.hp2 HG02165.hp1 others(22): Show HG00280.hp2 HG01891.hp2 HG02165.hp1 HG02486.hp2 HG02615.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp1 NA18906.hp2 NA18972.hp1 NA18982.hp1 NA18998.hp1 NA19007.hp2 NA19056.hp1 NA19057.hp2 NA19087.hp2 NA20805.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0010 a0013 a0014 a0028 a0029 a0032 a0053	a0001c0002 a0002c0004 a0002c0009 others(13): Show a0001c0002 a0002c0004 a0002c0009 a0002c0018 a0002c0067 a0002c0089 a0002c0098 a0004c0005 a0004c0019 a0010c0072 a0013c0060 a0014c0017 a0028c0037 a0029c0038 a0032c0094 a0053c0068	a0001c0002t0001 a0002c0004t0002 a0002c0004t0003 others(17): Show a0001c0002t0001 a0002c0004t0002 a0002c0004t0003 a0002c0009t0002 a0002c0018t0001 a0002c0018t0003 a0002c0067t0002 a0002c0089t0002 a0002c0098t0002 a0004c0005t0001 a0004c0019t0001 a0010c0072t0002 a0013c0060t0002 a0014c0017t0002 a0014c0017t0010 a0028c0037t0002 a0029c0038t0001 a0029c0038t0005 a0032c0094t0004 a0053c0068t0002	a0001c0002t0001g0011 a0001c0002t0001g0054 a0001c0002t0001g0055 others(22): Show a0001c0002t0001g0011 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0198 a0002c0004t0002g0053 a0002c0004t0003g0024 a0002c0009t0002g0215 a0002c0018t0001g0257 a0002c0018t0003g0066 a0002c0067t0002g0029 a0002c0089t0002g0069 a0002c0098t0002g0059 a0004c0005t0001g0013 a0004c0005t0001g0051 a0004c0005t0001g0115 a0004c0019t0001g0070 a0010c0072t0002g0216 a0013c0060t0002g0110 a0014c0017t0002g0074 a0014c0017t0010g0071 a0028c0037t0002g0218 a0029c0038t0001g0221 a0029c0038t0005g0219 a0032c0094t0004g0046 a0053c0068t0002g0220	25	268	0.0933	16	c.837 others(31): Show c.837+751_837+766dupCACACACACACACACA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168459774	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00738.hp1 others(55): Show HG00438.hp1 HG00609.hp1 HG00738.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG02135.hp2 HG02145.hp2 HG02486.hp1 HG02523.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp2 HG03239.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03834.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18962.hp2 NA18972.hp1 NA18982.hp1 NA18990.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20805.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0018 a0020 a0023 a0024 a0030 a0032 a0033 a0036 a0038	a0001c0002 a0001c0016 a0001c0039 others(26): Show a0001c0002 a0001c0016 a0001c0039 a0002c0004 a0002c0009 a0002c0067 a0002c0073 a0002c0098 a0003c0001 a0004c0005 a0004c0041 a0005c0003 a0005c0047 a0008c0014 a0009c0028 a0010c0024 a0012c0056 a0013c0060 a0014c0017 a0015c0022 a0018c0096 a0020c0023 a0023c0053 a0024c0043 a0030c0031 a0032c0094 a0033c0093 a0036c0052 a0038c0092	a0001c0002t0001 a0001c0016t0001 a0001c0039t0001 others(27): Show a0001c0002t0001 a0001c0016t0001 a0001c0039t0001 a0002c0004t0002 a0002c0009t0002 a0002c0009t0003 a0002c0067t0002 a0002c0073t0002 a0002c0098t0002 a0003c0001t0013 a0004c0005t0001 a0004c0041t0005 a0005c0003t0001 a0005c0047t0001 a0008c0014t0002 a0009c0028t0001 a0010c0024t0002 a0012c0056t0001 a0013c0060t0002 a0014c0017t0002 a0015c0022t0001 a0018c0096t0001 a0020c0023t0001 a0023c0053t0002 a0024c0043t0002 a0030c0031t0004 a0032c0094t0004 a0033c0093t0003 a0036c0052t0002 a0038c0092t0002	a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0026 others(55): Show a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0034 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0111 a0001c0002t0001g0197 a0001c0002t0001g0265 a0001c0016t0001g0160 a0001c0016t0001g0222 a0001c0016t0001g0225 a0001c0039t0001g0244 a0001c0039t0001g0261 a0002c0004t0002g0041 a0002c0004t0002g0042 a0002c0004t0002g0044 a0002c0004t0002g0047 a0002c0004t0002g0053 a0002c0009t0002g0215 a0002c0009t0002g0246 a0002c0009t0003g0245 a0002c0009t0003g0252 a0002c0009t0003g0262 a0002c0009t0003g0264 a0002c0067t0002g0029 a0002c0073t0002g0260 a0002c0098t0002g0059 a0003c0001t0013g0231 a0004c0005t0001g0052 a0004c0041t0005g0014 a0005c0003t0001g0018 a0005c0003t0001g0228 a0005c0047t0001g0167 a0008c0014t0002g0100 a0009c0028t0001g0124 a0010c0024t0002g0119 a0010c0024t0002g0120 a0012c0056t0001g0098 a0013c0060t0002g0110 a0014c0017t0002g0259 a0015c0022t0001g0033 a0018c0096t0001g0127 a0020c0023t0001g0075 a0020c0023t0001g0078 a0023c0053t0002g0065 a0024c0043t0002g0008 a0030c0031t0004g0117 a0032c0094t0004g0046 a0033c0093t0003g0045 a0036c0052t0002g0082 a0038c0092t0002g0067	58	268	0.2164	16	c.607 others(33): Show c.607-1782_607-1767dupTTCCTTCCTTCCTTCC	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	5/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168468170	T T	TAATAAAT others(9): Show TAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00438.hp2 others(60): Show HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp2 HG03239.hp1 HG03490.hp1 HG03516.hp1 HG03927.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18962.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19087.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0003 a0005 a0007 others(4): Show a0003 a0005 a0007 a0011 a0021 a0030 a0031	a0003c0001 a0003c0012 a0005c0003 others(10): Show a0003c0001 a0003c0012 a0005c0003 a0005c0008 a0005c0047 a0005c0049 a0007c0007 a0007c0020 a0011c0010 a0021c0030 a0021c0048 a0030c0031 a0031c0032	a0003c0001t0002 a0003c0001t0003 a0003c0001t0013 others(15): Show a0003c0001t0002 a0003c0001t0003 a0003c0001t0013 a0003c0012t0002 a0005c0003t0001 a0005c0008t0001 a0005c0047t0001 a0005c0049t0003 a0007c0007t0001 a0007c0007t0006 a0007c0020t0001 a0007c0020t0008 a0011c0010t0001 a0011c0010t0012 a0021c0030t0002 a0021c0048t0002 a0030c0031t0004 a0031c0032t0001	a0003c0001t0002g0002 a0003c0001t0002g0016 a0003c0001t0002g0159 others(58): Show a0003c0001t0002g0002 a0003c0001t0002g0016 a0003c0001t0002g0159 a0003c0001t0002g0164 a0003c0001t0002g0165 a0003c0001t0002g0169 a0003c0001t0002g0180 a0003c0001t0002g0186 a0003c0001t0002g0193 a0003c0001t0002g0203 a0003c0001t0002g0208 a0003c0001t0002g0213 a0003c0001t0003g0155 a0003c0001t0003g0176 a0003c0001t0003g0181 a0003c0001t0003g0183 a0003c0001t0003g0184 a0003c0001t0003g0187 a0003c0001t0003g0204 a0003c0001t0003g0205 a0003c0001t0003g0207 a0003c0001t0003g0209 a0003c0001t0013g0231 a0003c0012t0002g0019 a0003c0012t0002g0168 a0003c0012t0002g0171 a0003c0012t0002g0172 a0005c0003t0001g0015 a0005c0003t0001g0018 a0005c0003t0001g0154 a0005c0003t0001g0162 a0005c0003t0001g0170 a0005c0003t0001g0174 a0005c0003t0001g0177 a0005c0003t0001g0188 a0005c0003t0001g0210 a0005c0003t0001g0228 a0005c0008t0001g0179 a0005c0008t0001g0201 a0005c0008t0001g0206 a0005c0008t0001g0212 a0005c0047t0001g0167 a0005c0049t0003g0202 a0007c0007t0001g0009 a0007c0007t0001g0157 a0007c0007t0001g0175 a0007c0007t0001g0229 a0007c0007t0006g0163 a0007c0020t0001g0173 a0007c0020t0008g0195 a0007c0020t0008g0196 a0011c0010t0001g0017 a0011c0010t0001g0156 a0011c0010t0001g0178 a0011c0010t0001g0185 a0011c0010t0012g0149 a0021c0030t0002g0199 a0021c0030t0002g0200 a0021c0048t0002g0182 a0030c0031t0004g0211 a0031c0032t0001g0001	63	268	0.2351	16	c.264 others(33): Show c.264+3561_264+3576dupTATTTATTTATTTATT	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	4/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168484059	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01346.hp2 others(2): Show HG00140.hp2 HG01109.hp1 HG01346.hp2 HG03239.hp2 HG03927.hp2	a0006 a0009 a0018 others(2): Show a0006 a0009 a0018 a0041 a0046	a0006c0006 a0009c0029 a0018c0096 others(2): Show a0006c0006 a0009c0029 a0018c0096 a0041c0097 a0046c0076	a0006c0006t0003 a0009c0029t0001 a0018c0096t0001 others(2): Show a0006c0006t0003 a0009c0029t0001 a0018c0096t0001 a0041c0097t0003 a0046c0076t0002	a0006c0006t0003g0139 a0009c0029t0001g0125 a0018c0096t0001g0127 others(2): Show a0006c0006t0003g0139 a0009c0029t0001g0125 a0018c0096t0001g0127 a0041c0097t0003g0134 a0046c0076t0002g0224	5	268	0.0187	16	c.-38 others(27): Show c.-3809_-3794dupAAAAAAAAAAAAAAAA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding		3568		chr4	TogoVar
DDX60_chr4_168211294_168323752	168286416	A A	ACACACAC others(9): Show ACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0187 a0003c0004t0001g0187	1	270	0.0037	16	c.133 others(33): Show c.1339+631_1339+632insGGTGTGTGTGTGTGTG	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	10/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168297297	C C	CGAAAGAA others(9): Show CGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	270	0.0037	16	c.724 others(33): Show c.724-3368_724-3353dupTTTCTTTCTTTCTTTC	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168301336	A A	ATTGGCAA others(9): Show ATTGGCAAATTTAGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02080.hp1 HG02132.hp1 others(15): Show HG00438.hp2 HG02080.hp1 HG02132.hp1 HG02523.hp1 HG03688.hp1 HG03831.hp1 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18948.hp1 NA18956.hp1 NA18957.hp2 NA18964.hp2 NA18978.hp1 NA19055.hp1 NA19078.hp2	a0001 a0009 a0018 a0001 a0009 a0018	a0001c0001 a0001c0008 a0009c0037 others(1): Show a0001c0001 a0001c0008 a0009c0037 a0018c0034	a0001c0001t0001 a0001c0008t0001 a0009c0037t0001 others(1): Show a0001c0001t0001 a0001c0008t0001 a0009c0037t0001 a0018c0034t0001	a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 others(15): Show a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0118 a0001c0001t0001g0223 a0001c0008t0001g0032 a0009c0037t0001g0045 a0018c0034t0001g0020	18	270	0.0667	16	c.723 others(31): Show c.723+963_723+964insCTTCTAAATTTGCCAA	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DDX6_chr11_118742763_118796164	118764821	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18978.hp1 HG01074.hp1 NA18978.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0009 a0004c0003t0083 a0001c0001t0009 a0004c0003t0083	a0001c0001t0009g0024 a0004c0003t0083g0357 a0001c0001t0009g0024 a0004c0003t0083g0357	2	370	0.0054	16	c.646 others(31): Show c.646+372_646+387dupGTGTGTGTGTGTGTGT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	6/13			chr11	TogoVar
DDX6_chr11_118742763_118796164	118764835	C C	CACACACA others(9): Show CACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02895.hp2 others(3): Show HG02622.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0030 a0001c0001t0052 others(2): Show a0001c0001t0021 a0001c0001t0030 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054	a0001c0001t0021g0241 a0001c0001t0021g0242 a0001c0001t0030g0229 others(3): Show a0001c0001t0021g0241 a0001c0001t0021g0242 a0001c0001t0030g0229 a0001c0001t0052g0231 a0001c0001t0053g0228 a0001c0001t0054g0227	6	370	0.0162	16	c.646 others(31): Show c.646+373_646+374insCTGTGTGTGTGTGTGT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	6/13			chr11	TogoVar
DDX6_chr11_118742763_118796164	118783810	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02132.hp2 HG02155.hp1 others(14): Show HG02074.hp1 HG02132.hp2 HG02155.hp1 HG02698.hp1 HG03239.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp2 NA18957.hp1 NA18978.hp2 NA18992.hp1 NA19007.hp1 NA19054.hp2 NA19057.hp1 NA19068.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0029 others(1): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0029 a0001c0001t0048	a0001c0001t0006g0239 a0001c0001t0006g0259 a0001c0001t0006g0260 others(13): Show a0001c0001t0006g0239 a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0272 a0001c0001t0006g0275 a0001c0001t0006g0277 a0001c0001t0013g0223 a0001c0001t0013g0224 a0001c0001t0013g0246 a0001c0001t0029g0007 a0001c0001t0029g0273 a0001c0001t0048g0274	17	370	0.0460	16	c.200 others(33): Show c.200+2241_200+2242insTTTTTTTTTTTTTTTT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	2/13			chr11	TogoVar
DEAF1_chr11_639233_700222	687550	C C	CGTGATCT others(9): Show CGTGATCTCAGCTCACT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	345	0.0029	16	c.664 others(31): Show c.664+345_664+360dupAGTGAGCTGAGATCAC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	4/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690372	A A	AGGGGAGG others(9): Show AGGGGAGGGGAGGGCAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	345	0.0029	16	c.387 others(33): Show c.387+1128_387+1129insCTGCCCTCCCCTCCCC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DECR1_chr8_89996477_90058633	90056954	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02486.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0214 a0001c0001t0001g0040 a0001c0001t0001g0214	2	378	0.0053	16	c.50 others(27): Show c.5057_*5058insTTTTTTTTTTTTTTTT	DECR1	ENSG00000104325.7	transcript	ENST00000220764.7	protein_coding		3322		chr8	TogoVar
DEDD2_chr19_42193598_42222677	42194986	A A	AGAGGGAG others(9): Show AGAGGGAGGGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp2 NA19091.hp1 HG02040.hp1 HG02040.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0091	3	252	0.0119	16	c.44 others(27): Show c.4436_*4451dupCCTTCCTCCCTCCCTC	DEDD2	ENSG00000160570.14	transcript	ENST00000596251.6	protein_coding		3611		chr19	TogoVar
DEDD2_chr19_42193598_42222677	42195083	G G	GAGGGAGG others(9): Show GAGGGAGGGAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02109.hp1 HG02615.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0026 a0002c0004t0003g0026	2	252	0.0079	16	c.43 others(27): Show c.4354_*4355insTCCTTCCTCCCTCCCT	DEDD2	ENSG00000160570.14	transcript	ENST00000596251.6	protein_coding		3514		chr19	TogoVar
DEF8_chr16_89943755_89973060	89949060	A A	AGGGACGG others(9): Show AGGGACGGGGCCGGCGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	392	0.0026	16	c.-10 others(33): Show c.-108+249_-108+264dupGACGGGGCCGGCGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFA1_chr8_6972649_6985092	6974207	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG03654.hp1 HG03669.hp2 others(7): Show HG01361.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 NA18955.hp1 NA18981.hp1 NA18983.hp1 NA19000.hp2 NA19075.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0006 a0001c0003t0001g0001 a0001c0003t0001g0039 a0001c0001t0001g0006 a0001c0003t0001g0001 a0001c0003t0001g0039	10	408	0.0245	16	c.35 others(27): Show c.3562_*3563insGAAAGAAAGAAAGAAA	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding		3441		chr8	TogoVar
DEFB105A_chr8_7816004_7828880	7816064	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0016 a0004c0004t0012g0016	1	146	0.0069	16	c.59 others(27): Show c.5943_*5944insAAAAAAAAAAAAAAAA	DEFB105A	ENSG00000186562.8	transcript	ENST00000334773.7	protein_coding		4939		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7829529	T T	TCCTCCCC others(9): Show TCCTCCCCCCTCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	160	0.0063	16	c.57 others(25): Show c.576_*577insCCTCCCCCCTCTCCCC	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding		477		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7829533	T T	TCCCCCCT others(9): Show TCCCCCCTCCCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 NA18957.hp1 NA19003.hp1 HG02738.hp2 NA18957.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0002t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0002t0001g0002	3	160	0.0188	16	c.58 others(25): Show c.580_*581insCCCCCCTCCCCCCCTC	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding		481		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7829539	C C	CCTCCCCC others(9): Show CCTCCCCCCTCCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	160	0.0063	16	c.58 others(25): Show c.586_*587insCTCCCCCCTCCCCCCT	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding		487		chr8	TogoVar
DEFB107A_chr8_7806720_7820716	7816064	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG06807.hp2 HG03209.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0083 a0001c0001t0001g0088	2	170	0.0118	16	c.-43 others(25): Show c.-437_-436insAAAAAAAAAAAAAAAA	DEFB107A	ENSG00000186572.2	transcript	ENST00000335021.2	protein_coding		349		chr8	TogoVar
DEFB116_chr20_31298212_31313585	31298455	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG01358.hp1 others(15): Show HG01106.hp1 HG01168.hp2 HG01358.hp1 HG01978.hp1 HG01978.hp2 HG02071.hp1 HG02559.hp1 HG04199.hp2 NA18612.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18980.hp1 NA18992.hp2 NA19004.hp2 NA19011.hp1 NA19066.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0003 others(4): Show a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0003 a0001c0001t0000g0004 a0001c0001t0000g0011 a0001c0001t0000g0012 a0001c0001t0000g0046	18	416	0.0433	16	c.47 others(27): Show c.4756_*4757insTTTTTTTTTTTTTTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		4756		chr20	TogoVar
DEFB121_chr20_31399845_31411215	31410823	T T	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02897.hp1 HG03209.hp2 HG01069.hp1 HG02897.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	372	0.0081	16	c.-46 others(27): Show c.-4687_-4672dupTCTCTCTCTCTCTCTC	DEFB121	ENSG00000204548.4	transcript	ENST00000376314.3	protein_coding		4609		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31463125	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03471.hp2 HG03225.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0002 a0001c0001t0002 a0003c0002t0002	a0001c0001t0002g0032 a0003c0002t0002g0119 a0001c0001t0002g0032 a0003c0002t0002g0119	2	362	0.0055	16	c.23 others(27): Show c.2380_*2381insAAAAAAAAAAAAAAAA	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		2345		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31466606	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp1 others(39): Show HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00735.hp1 HG01168.hp2 HG01255.hp2 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp2 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02155.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02897.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp2 HG03710.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18970.hp2 NA18973.hp1 NA19056.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(22): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0097 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0127	42	362	0.1160	16	c.59- others(29): Show c.59-959_59-944dupATATATATATATATAT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB129_chr20_222258_234886	232033	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01993.hp2 HG02080.hp2 others(22): Show HG01255.hp2 HG01993.hp2 HG02080.hp2 HG02615.hp1 HG02683.hp1 HG03491.hp2 HG03492.hp2 HG04228.hp2 NA18951.hp1 NA18959.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18984.hp2 NA18985.hp2 NA18998.hp2 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp2 NA19055.hp1 NA19059.hp2 NA19070.hp2 NA19078.hp1 NA19083.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0003 a0003c0004 others(1): Show a0001c0002 a0002c0003 a0003c0004 a0004c0005	a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 others(2): Show a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0004c0005t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0002c0003t0001g0001 others(7): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0002c0003t0001g0001 a0002c0003t0001g0006 a0002c0003t0002g0003 a0002c0003t0002g0005 a0003c0004t0001g0004 a0003c0004t0001g0018 a0003c0004t0001g0028 a0004c0005t0001g0030	25	450	0.0556	16	c.22 others(27): Show c.2262_*2263insAAATAAATAAATAAAT	DEFB129	ENSG00000125903.4	transcript	ENST00000246105.4	protein_coding		2148		chr20	TogoVar
DEFB134_chr8_11988174_12005752	11995958	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02559.hp2 others(12): Show HG01884.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020	a0001c0001t0004g0017 a0001c0001t0004g0021 a0001c0001t0004g0072 others(9): Show a0001c0001t0004g0017 a0001c0001t0004g0021 a0001c0001t0004g0072 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0122 a0001c0001t0004g0128 a0001c0001t0004g0130 a0001c0001t0004g0136 a0001c0001t0004g0140 a0001c0001t0005g0066 a0001c0001t0020g0151	15	448	0.0335	16	c.58+ others(29): Show c.58+235_58+236insTTTTTTTTTTTTTTTT	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding	2/2			chr8	TogoVar
DEFB136_chr8_11968937_11979599	11976491	C C	CATCTATC others(9): Show CATCTATCTATCTATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18994.hp2 NA19063.hp2 NA18991.hp1 NA18994.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	3	426	0.0070	16	c.-18 others(27): Show c.-1893_-1892insAGATAGATAGATAGAT	DEFB136	ENSG00000205884.2	transcript	ENST00000382209.2	protein_coding		1893		chr8	TogoVar
DEFB4B_chr8_7409855_7421863	7415689	A A	ATCCCTCC others(9): Show ATCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01258.hp2 HG02486.hp1 others(2): Show HG01069.hp2 HG01258.hp2 HG02486.hp1 NA19002.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0022 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0001t0001g0022 a0001c0002t0002g0013 a0001c0002t0002g0015	5	142	0.0352	16	c.59- others(29): Show c.59-608_59-593dupGGGAGGGAGGGAGGGA	DEFB4B	ENSG00000177257.3	transcript	ENST00000318157.3	protein_coding	1/1			chr8	TogoVar
DENND10_chr10_119099113_119142984	119115382	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01106.hp2 others(5): Show HG00735.hp1 HG01081.hp2 HG01106.hp2 HG01258.hp1 NA18950.hp2 NA18963.hp1 NA18991.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0140 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0004g0016 a0001c0001t0004g0109 a0001c0001t0004g0142	8	374	0.0214	16	c.333 others(33): Show c.333-2129_333-2114dupTTTTTTTTTTTTTTTT	DENND10	ENSG00000119979.18	transcript	ENST00000361432.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DENND10_chr10_119099113_119142984	119135791	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA19079.hp1 HG01928.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	374	0.0054	16	c.898 others(31): Show c.898-670_898-655dupAAAAAAAAAAAAAAAA	DENND10	ENSG00000119979.18	transcript	ENST00000361432.3	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DENND11_chr7_141651728_141707166	141703542	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00597.hp2 others(79): Show HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01175.hp1 HG01358.hp1 HG01496.hp2 HG02015.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18522.hp1 NA18942.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18963.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp1 NA18987.hp1 NA18989.hp2 NA18991.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0003c0006 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0023 a0001c0001t0032 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0015 a0001c0005t0001 a0003c0006t0027 a0004c0004t0001	a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 others(65): Show a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0002g0007 a0001c0001t0002g0165 a0001c0001t0002g0177 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0282 a0001c0001t0005g0029 a0001c0001t0005g0234 a0001c0001t0006g0174 a0001c0001t0010g0197 a0001c0001t0012g0045 a0001c0001t0012g0286 a0001c0001t0019g0195 a0001c0001t0023g0095 a0001c0001t0032g0206 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0243 a0001c0002t0001g0259 a0001c0002t0003g0023 a0001c0002t0003g0033 a0001c0002t0003g0235 a0001c0002t0003g0238 a0001c0002t0003g0275 a0001c0002t0003g0278 a0001c0002t0009g0211 a0001c0002t0009g0226 a0001c0002t0009g0233 a0001c0002t0015g0269 a0001c0005t0001g0040 a0003c0006t0027g0175 a0004c0004t0001g0039	82	345	0.2377	16	c.-13 others(27): Show c.-1390_-1389insCACACACACACACACA	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding		1377		chr7	TogoVar
DENND11_chr7_141651728_141707166	141703565	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	345	0.0029	16	c.-14 others(27): Show c.-1413_-1412insGTACACACACACACAC	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding		1400		chr7	TogoVar

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