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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NALF1_chr13_107158510_107872496	107823977	G G	GTTATTAT others(2): Show GTTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(18): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG01081.hp2 HG01361.hp2 HG01433.hp1 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02132.hp2 HG02486.hp1 HG03491.hp1 HG04115.hp2 HG04199.hp2 NA18969.hp1 NA18998.hp1 NA19066.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0043 a0001c0001t0048 a0001c0001t0066 a0001c0001t0073 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0095 a0001c0001t0096 a0001c0002t0002 a0002c0003t0007 a0002c0003t0008	a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0003g0100 others(18): Show a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0003g0100 a0001c0001t0004g0055 a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0012g0023 a0001c0001t0015g0095 a0001c0001t0015g0099 a0001c0001t0043g0054 a0001c0001t0048g0056 a0001c0001t0066g0028 a0001c0001t0073g0026 a0001c0001t0080g0097 a0001c0001t0081g0098 a0001c0001t0085g0101 a0001c0001t0095g0127 a0001c0001t0096g0128 a0001c0002t0002g0086 a0002c0003t0007g0126 a0002c0003t0008g0122	21	128	0.1641	9	c.915 others(28): Show c.915+41696_915+41704dupTAATAATAA		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG02735.hp2 others(4): Show HG01109.hp1 HG01109.hp2 HG02735.hp2 HG03491.hp2 NA18961.hp1 NA18961.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(4): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0138 a0001c0002t0002g0210 a0001c0002t0002g0219	7	336	0.0208	9	c.743 others(24): Show c.743+615_743+623dupTTTTTTTTT		NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10						chr7	TogoVar
NANS_chr9_98051732_98088077	98065483	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01070.hp1 others(3): Show HG00099.hp1 HG01069.hp2 HG01070.hp1 HG01433.hp1 HG02300.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002	a0001c0001t0002g0160 a0001c0004t0001g0013 a0001c0004t0002g0020 a0001c0001t0002g0160 a0001c0004t0001g0013 a0001c0004t0002g0020	6	318	0.0189	9	c.348 others(26): Show c.348+4505_348+4513dupTTTTTTTTT		NANS	ENSG00000095380.11	transcript	ENST00000210444.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
NAP1L4_chr11_2939437_2997329	2981418	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01123.hp1 others(11): Show HG00621.hp1 HG00735.hp1 HG01123.hp1 HG01517.hp2 HG02602.hp1 HG03688.hp1 HG03688.hp2 NA18951.hp2 NA18966.hp2 NA18974.hp2 NA18981.hp2 NA19065.hp1 NA19076.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0002g0043 a0001c0001t0002g0074 others(11): Show a0001c0001t0001g0044 a0001c0001t0002g0043 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104	14	335	0.0418	9	c.-17 others(26): Show c.-17-2190_-17-2182dupTTTTTTTTT		NAP1L4	ENSG00000205531.14	transcript	ENST00000380542.9	protein_coding	1/15						chr11	TogoVar
NAP1L5_chr4_88690913_88702829	88699191	C C	CACCCACC others(2): Show CACCCACCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02572.hp2 others(5): Show HG01884.hp2 HG02486.hp2 HG02572.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0000 a0001c0002t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000	8	414	0.0193	9	c.-14 others(20): Show c.-1438_-1437insTGGGTGGGT		NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding					1363		chr4	TogoVar
NAP1L5_chr4_88690913_88702829	88699215	C C	CACCCACC others(2): Show CACCCACCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG02145.hp2 others(3): Show HG00140.hp1 HG01123.hp2 HG02145.hp2 HG02280.hp2 HG02615.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0002g0000 a0001c0001t0004g0000	6	414	0.0145	9	c.-14 others(20): Show c.-1462_-1461insTGGGTGGGT		NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding					1387		chr4	TogoVar
NAPRT_chr8_143569785_143583330	143570223	C C	CCCCTCCT others(2): Show CCCCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(54): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01258.hp1 HG01496.hp1 HG01884.hp2 HG02040.hp2 HG02155.hp1 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp1 NA18522.hp1 NA18940.hp2 NA18951.hp1 NA18967.hp1 NA18970.hp2 NA18985.hp1 NA19002.hp2 NA19011.hp1 NA19043.hp1 NA19063.hp2 NA19085.hp1 NA19088.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0016 a0001c0022 a0002c0005 a0003c0009 a0004c0021 a0006c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0016t0001 a0001c0022t0001 a0002c0005t0001 a0003c0009t0001 a0004c0021t0001 a0006c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0061 a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0053 a0001c0003t0001g0003 a0001c0003t0001g0009 a0001c0003t0001g0029 a0001c0003t0003g0069 a0001c0004t0001g0004 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0002g0022 a0001c0006t0001g0013 a0001c0016t0001g0048 a0001c0022t0001g0055 a0002c0005t0001g0010 a0003c0009t0001g0017 a0004c0021t0001g0051 a0006c0013t0001g0032	57	403	0.1414	9	c.46 others(20): Show c.4606_*4614dupTGAGGAGGG		NAPRT	ENSG00000147813.16	transcript	ENST00000449291.7	protein_coding					4561		chr8	TogoVar
NAPRT_chr8_143569785_143583330	143570425	G G	GGCAGTGG others(2): Show GGCAGTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00741.hp2 others(52): Show HG00438.hp1 HG00639.hp1 HG00741.hp2 HG01069.hp2 HG01123.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01943.hp1 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02602.hp2 HG02698.hp2 HG02717.hp1 HG02970.hp1 HG03139.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 NA18940.hp1 NA18956.hp2 NA18966.hp1 NA18983.hp1 NA18987.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp1 NA19004.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0012c0023	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0001c0012t0001 a0012c0023t0001	a0001c0001t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0015 others(12): Show a0001c0001t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0002t0001g0025 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0003t0001g0003 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0004t0001g0004 a0001c0011t0001g0030 a0001c0012t0001g0031 a0012c0023t0001g0063	55	403	0.1365	9	c.44 others(20): Show c.4412_*4413insTCCCACTGC		NAPRT	ENSG00000147813.16	transcript	ENST00000449291.7	protein_coding					4359		chr8	TogoVar
NAPSA_chr19_50353477_50370639	50369558	G G	GTTTTTTT others(2): Show GTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG02896.hp1 HG02897.hp2 others(5): Show HG01517.hp2 HG02896.hp1 HG02897.hp2 NA18952.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0004c0004t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0005 a0004c0004t0001g0009	8	350	0.0229	9	c.-39 others(20): Show c.-3946_-3938dupAAAAAAAAA		NAPSA	ENSG00000131400.9	transcript	ENST00000253719.7	protein_coding					3920		chr19	TogoVar
NARF_chr17_82453741_82495537	82471791	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01069.hp2 others(59): Show HG00621.hp1 HG00639.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 NA18942.hp1 NA18947.hp1 NA18950.hp1 NA18961.hp1 NA18973.hp2 NA18979.hp1 NA19003.hp1 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19090.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0002t0003 a0001c0002t0004 a0001c0002t0022 a0001c0002t0026 a0001c0002t0027 a0004c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(41): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0007g0006 a0001c0001t0017g0007 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0135 a0001c0002t0004g0139 a0001c0002t0004g0143 a0001c0002t0004g0151 a0001c0002t0022g0241 a0001c0002t0026g0021 a0001c0002t0027g0152 a0004c0007t0001g0007	62	356	0.1742	9	c.386 others(24): Show c.386-765_386-757dupAAAAAAAAA		NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
NARS2_chr11_78430968_78579864	78435513	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02647.hp2 others(3): Show HG02451.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02895.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0006 a0002c0002t0008 a0001c0003t0006 a0002c0002t0008	a0001c0003t0006g0260 a0001c0003t0006g0261 a0001c0003t0006g0263 others(3): Show a0001c0003t0006g0260 a0001c0003t0006g0261 a0001c0003t0006g0263 a0001c0003t0006g0265 a0002c0002t0008g0290 a0002c0002t0008g0291	6	294	0.0204	9	c.11 others(20): Show c.1156_*1157insAAAAAAAAA		NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding					454		chr11	TogoVar
NARS2_chr11_78430968_78579864	78444727	C C	CAAAGAAA others(2): Show CAAAGAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00597.hp1 others(81): Show HG00099.hp2 HG00408.hp2 HG00597.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02738.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03492.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19078.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0009	a0001c0001t0005 a0001c0003t0002 a0002c0002t0002 others(3): Show a0001c0001t0005 a0001c0003t0002 a0002c0002t0002 a0002c0002t0005 a0002c0002t0016 a0004c0009t0002	a0001c0001t0005g0060 a0001c0001t0005g0117 a0001c0001t0005g0122 others(81): Show a0001c0001t0005g0060 a0001c0001t0005g0117 a0001c0001t0005g0122 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0003t0002g0255 a0001c0003t0002g0256 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0170 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0180 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0241 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0005g0001 a0002c0002t0016g0294 a0004c0009t0002g0160	84	294	0.2857	9	c.116 others(26): Show c.1165-970_1165-969insTTTTTCTTT		NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	11/13						chr11	TogoVar
NARS2_chr11_78430968_78579864	78468310	G G	GGAAAAAA others(2): Show GGAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG02738.hp1 others(8): Show HG00735.hp2 HG01192.hp2 HG02738.hp1 NA18950.hp2 NA18967.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19062.hp2 NA19078.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0117 a0001c0001t0005g0122 a0002c0002t0002g0174 others(8): Show a0001c0001t0005g0117 a0001c0001t0005g0122 a0002c0002t0002g0174 a0002c0002t0002g0181 a0002c0002t0002g0193 a0002c0002t0002g0199 a0002c0002t0002g0204 a0002c0002t0002g0221 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0267	11	294	0.0374	9	c.102 others(26): Show c.1026+936_1026+937insTTTTTTTTC		NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	10/13						chr11	TogoVar
NARS2_chr11_78430968_78579864	78502991	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02622.hp1 others(8): Show HG02109.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0002 a0001c0003 a0001c0004 a0002c0002	a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 others(2): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0004t0013 a0002c0002t0008	a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0004g0275 others(8): Show a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0004g0275 a0001c0003t0006g0261 a0001c0003t0006g0262 a0001c0003t0006g0263 a0001c0003t0006g0264 a0001c0003t0006g0265 a0001c0004t0013g0153 a0002c0002t0008g0291 a0002c0002t0008g0292	11	294	0.0374	9	c.690 others(26): Show c.690-9805_690-9797dupTTTTTTTTT		NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	6/13						chr11	TogoVar
NARS2_chr11_78430968_78579864	78563885	G G	GTATTATT others(2): Show GTATTATTAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG04184.hp1 others(1): Show HG02615.hp2 HG02818.hp1 HG04184.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0002 a0001c0011 a0002c0002	a0001c0011t0003 a0002c0002t0002 a0002c0002t0003 a0001c0011t0003 a0002c0002t0002 a0002c0002t0003	a0001c0011t0003g0271 a0002c0002t0002g0244 a0002c0002t0003g0288 others(1): Show a0001c0011t0003g0271 a0002c0002t0002g0244 a0002c0002t0003g0288 a0002c0002t0003g0289	4	294	0.0136	9	c.513 others(26): Show c.513+2238_513+2246dupATAATAATA		NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	4/13						chr11	TogoVar
NASP_chr1_45579041_45623893	45586284	G G	GTGTGTGT others(2): Show GTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02055.hp1 HG02717.hp1 HG00609.hp2 HG02055.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0003g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0003g0133	3	300	0.0100	9	c.59+ others(24): Show c.59+2079_59+2080insTGTGTGTGT		NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14						chr1	TogoVar
NAT16_chr7_101165496_101185293	101178889	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01074.hp2 others(13): Show HG00733.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01943.hp1 HG02040.hp1 NA18973.hp2 NA19043.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0003c0004t0014	a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0080 others(7): Show a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0080 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0003g0143 a0001c0003t0001g0016 a0001c0003t0001g0111 a0001c0003t0001g0112 a0003c0004t0014g0177	16	422	0.0379	9	c.-5+ others(24): Show c.-5+1144_-5+1152dupTTTTTTTTT		NAT16	ENSG00000167011.9	transcript	ENST00000300303.7	protein_coding	1/3						chr7	TogoVar
NAV1_chr1_201534127_201831969	201734499	G G	GAGAAGAA others(2): Show GAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01993.hp2 HG02071.hp1 others(14): Show HG00735.hp2 HG01993.hp2 HG02071.hp1 HG02559.hp2 HG02572.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03453.hp2 NA18522.hp2 NA18947.hp2 NA18960.hp2 NA19000.hp1 NA19005.hp1 NA19085.hp2 NA19091.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0017	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0003c0004 a0003c0020 a0004c0003 a0017c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0028 a0001c0001t0035 a0001c0001t0084 a0001c0001t0086 a0001c0006t0021 a0002c0002t0035 a0003c0004t0041 a0003c0004t0060 a0003c0020t0090 a0004c0003t0019 a0004c0003t0038 a0017c0028t0015	a0001c0001t0001g0140 a0001c0001t0002g0138 a0001c0001t0022g0020 others(14): Show a0001c0001t0001g0140 a0001c0001t0002g0138 a0001c0001t0022g0020 a0001c0001t0022g0048 a0001c0001t0028g0177 a0001c0001t0035g0017 a0001c0001t0084g0156 a0001c0001t0086g0110 a0001c0006t0021g0130 a0001c0006t0021g0210 a0002c0002t0035g0018 a0003c0004t0041g0079 a0003c0004t0060g0172 a0003c0020t0090g0161 a0004c0003t0019g0189 a0004c0003t0038g0014 a0017c0028t0015g0208	17	210	0.0810	9	c.208 others(30): Show c.2087+15769_2087+15777dupAGAAGAAGA		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201768333	G G	GAAAAAAA others(2): Show GAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp2 HG03579.hp1 others(3): Show HG02809.hp1 HG02976.hp2 HG03579.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0004 a0001c0001t0015 a0001c0001t0045 others(2): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0045 a0001c0001t0047 a0001c0015t0023	a0001c0001t0004g0072 a0001c0001t0015g0081 a0001c0001t0045g0135 others(3): Show a0001c0001t0004g0072 a0001c0001t0015g0081 a0001c0001t0045g0135 a0001c0001t0047g0200 a0001c0015t0023g0192 a0001c0015t0023g0193	6	210	0.0286	9	c.208 others(30): Show c.2088-12080_2088-12072dupAAAAAAAAA		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19931609	A A	AAAAAAAA others(2): Show AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01515.hp1 HG02280.hp2 others(10): Show HG01069.hp2 HG01515.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG06807.hp2 NA18942.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0003 a0001c0019 a0001c0048 others(10): Show a0001c0003 a0001c0019 a0001c0048 a0001c0049 a0002c0014 a0002c0100 a0002c0120 a0002c0124 a0002c0129 a0003c0040 a0004c0135 a0005c0051 a0007c0111	a0001c0003t0026 a0001c0019t0049 a0001c0048t0036 others(10): Show a0001c0003t0026 a0001c0019t0049 a0001c0048t0036 a0001c0049t0011 a0002c0014t0001 a0002c0100t0002 a0002c0120t0015 a0002c0124t0003 a0002c0129t0004 a0003c0040t0011 a0004c0135t0039 a0005c0051t0010 a0007c0111t0001	a0001c0003t0026g0157 a0001c0019t0049g0142 a0001c0048t0036g0150 others(10): Show a0001c0003t0026g0157 a0001c0019t0049g0142 a0001c0048t0036g0150 a0001c0049t0011g0008 a0002c0014t0001g0062 a0002c0100t0002g0052 a0002c0120t0015g0156 a0002c0124t0003g0091 a0002c0129t0004g0030 a0003c0040t0011g0162 a0004c0135t0039g0137 a0005c0051t0010g0066 a0007c0111t0001g0074	13	166	0.0783	9	c.932 others(26): Show c.932-1567_932-1566insAAAAAAAAG		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	6/37						chr11	TogoVar
NAV2_chr11_19707837_20126601	19935851	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01109.hp1 others(10): Show HG00438.hp2 HG00639.hp1 HG01109.hp1 HG01261.hp2 HG02027.hp1 HG02083.hp2 HG02572.hp1 NA18942.hp1 NA18947.hp2 NA18979.hp1 NA18991.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0011 a0014	a0001c0019 a0001c0032 a0002c0004 others(10): Show a0001c0019 a0001c0032 a0002c0004 a0002c0011 a0002c0098 a0002c0100 a0002c0101 a0002c0129 a0004c0103 a0005c0061 a0005c0083 a0011c0025 a0014c0108	a0001c0019t0049 a0001c0032t0001 a0002c0004t0001 others(10): Show a0001c0019t0049 a0001c0032t0001 a0002c0004t0001 a0002c0011t0006 a0002c0098t0003 a0002c0100t0002 a0002c0101t0006 a0002c0129t0004 a0004c0103t0001 a0005c0061t0002 a0005c0083t0002 a0011c0025t0002 a0014c0108t0001	a0001c0019t0049g0142 a0001c0032t0001g0078 a0002c0004t0001g0040 others(10): Show a0001c0019t0049g0142 a0001c0032t0001g0078 a0002c0004t0001g0040 a0002c0011t0006g0096 a0002c0098t0003g0032 a0002c0100t0002g0052 a0002c0101t0006g0025 a0002c0129t0004g0030 a0004c0103t0001g0007 a0005c0061t0002g0048 a0005c0083t0002g0057 a0011c0025t0002g0115 a0014c0108t0001g0044	13	166	0.0783	9	c.203 others(28): Show c.2033+1590_2033+1598dupTTTTTTTTT		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	7/37					INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19945115	C C	CCTCTTTC others(2): Show CCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG01169.hp2 others(9): Show HG00280.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG02083.hp1 HG02559.hp1 HG03942.hp2 HG04228.hp1 NA18951.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0009 a0010 a0017	a0001c0031 a0002c0004 a0002c0013 others(8): Show a0001c0031 a0002c0004 a0002c0013 a0002c0091 a0002c0093 a0005c0143 a0007c0111 a0007c0112 a0009c0109 a0010c0038 a0017c0094	a0001c0031t0001 a0002c0004t0001 a0002c0013t0001 others(8): Show a0001c0031t0001 a0002c0004t0001 a0002c0013t0001 a0002c0091t0004 a0002c0093t0001 a0005c0143t0019 a0007c0111t0001 a0007c0112t0006 a0009c0109t0004 a0010c0038t0002 a0017c0094t0001	a0001c0031t0001g0082 a0002c0004t0001g0100 a0002c0013t0001g0144 others(9): Show a0001c0031t0001g0082 a0002c0004t0001g0100 a0002c0013t0001g0144 a0002c0013t0001g0145 a0002c0091t0004g0028 a0002c0093t0001g0110 a0005c0143t0019g0114 a0007c0111t0001g0074 a0007c0112t0006g0071 a0009c0109t0004g0039 a0010c0038t0002g0054 a0017c0094t0001g0111	12	166	0.0723	9	c.214 others(28): Show c.2147-1286_2147-1285insCTCTTTCTT		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	8/37						chr11	TogoVar
NAV2_chr11_19707837_20126601	19982259	T T	TTTTGTTT others(2): Show TTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG01069.hp2 others(9): Show HG00140.hp2 HG00673.hp2 HG01069.hp2 HG01515.hp2 HG02258.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG03942.hp1 HG04115.hp2 NA18947.hp1 NA19043.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0021	a0001c0031 a0001c0044 a0002c0002 others(9): Show a0001c0031 a0001c0044 a0002c0002 a0002c0014 a0002c0102 a0002c0131 a0002c0139 a0003c0005 a0003c0040 a0004c0106 a0006c0142 a0021c0089	a0001c0031t0001 a0001c0044t0003 a0002c0002t0001 others(9): Show a0001c0031t0001 a0001c0044t0003 a0002c0002t0001 a0002c0014t0001 a0002c0102t0014 a0002c0131t0005 a0002c0139t0012 a0003c0005t0005 a0003c0040t0011 a0004c0106t0001 a0006c0142t0002 a0021c0089t0043	a0001c0031t0001g0082 a0001c0044t0003g0005 a0002c0002t0001g0059 others(9): Show a0001c0031t0001g0082 a0001c0044t0003g0005 a0002c0002t0001g0059 a0002c0014t0001g0062 a0002c0102t0014g0064 a0002c0131t0005g0086 a0002c0139t0012g0085 a0003c0005t0005g0128 a0003c0040t0011g0162 a0004c0106t0001g0143 a0006c0142t0002g0107 a0021c0089t0043g0020	12	166	0.0723	9	c.264 others(28): Show c.2646-1863_2646-1862insGTTTTGTTT		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	10/37					INFO_REALIGN_3_PRIME	chr11	TogoVar
NBAS_chr2_15161916_15566334	15459503	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp2 others(90): Show HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18948.hp2 NA18966.hp1 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19064.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0009 a0010 a0011 a0013 a0014 a0015 a0018 a0020 a0027 a0028 a0029 a0030 a0031 a0033 a0034 a0035 a0036 a0037 a0038	a0001c0003 a0002c0002 a0002c0009 others(21): Show a0001c0003 a0002c0002 a0002c0009 a0003c0011 a0009c0013 a0010c0028 a0011c0012 a0013c0015 a0014c0045 a0014c0047 a0015c0016 a0018c0018 a0020c0041 a0027c0029 a0028c0026 a0029c0025 a0030c0024 a0031c0031 a0033c0042 a0034c0048 a0035c0046 a0036c0043 a0037c0044 a0038c0049	a0001c0003t0001 a0002c0002t0001 a0002c0009t0001 others(21): Show a0001c0003t0001 a0002c0002t0001 a0002c0009t0001 a0003c0011t0001 a0009c0013t0001 a0010c0028t0001 a0011c0012t0001 a0013c0015t0001 a0014c0045t0001 a0014c0047t0001 a0015c0016t0001 a0018c0018t0001 a0020c0041t0001 a0027c0029t0001 a0028c0026t0001 a0029c0025t0001 a0030c0024t0001 a0031c0031t0001 a0033c0042t0001 a0034c0048t0001 a0035c0046t0001 a0036c0043t0001 a0037c0044t0001 a0038c0049t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 others(90): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0039 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0009t0001g0160 a0002c0009t0001g0165 a0002c0009t0001g0191 a0003c0011t0001g0022 a0003c0011t0001g0034 a0009c0013t0001g0131 a0010c0028t0001g0010 a0011c0012t0001g0032 a0011c0012t0001g0143 a0013c0015t0001g0002 a0014c0045t0001g0183 a0014c0047t0001g0200 a0015c0016t0001g0177 a0015c0016t0001g0201 a0018c0018t0001g0153 a0020c0041t0001g0027 a0027c0029t0001g0031 a0028c0026t0001g0021 a0029c0025t0001g0003 a0030c0024t0001g0028 a0031c0031t0001g0029 a0033c0042t0001g0176 a0034c0048t0001g0194 a0035c0046t0001g0188 a0036c0043t0001g0221 a0037c0044t0001g0159 a0038c0049t0001g0148	93	224	0.4152	9	c.233 others(28): Show c.2339+1689_2339+1697dupAAAAAAAAA		NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	21/51						chr2	TogoVar
NBAS_chr2_15161916_15566334	15474549	T T	TTTCTTCT others(2): Show TTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02723.hp2 others(5): Show HG01884.hp2 HG02055.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0003 a0006c0008 a0013c0015 a0001c0003 a0006c0008 a0013c0015	a0001c0003t0001 a0006c0008t0001 a0013c0015t0001 a0001c0003t0001 a0006c0008t0001 a0013c0015t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 others(5): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0024 a0001c0003t0001g0025 a0006c0008t0001g0144 a0013c0015t0001g0223	8	224	0.0357	9	c.134 others(26): Show c.1342-234_1342-226dupGAAGAAGAA		NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	14/51						chr2	TogoVar
NBAS_chr2_15161916_15566334	15516751	A A	AGAAGTTA others(2): Show AGAAGTTATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01109.hp1 others(12): Show HG00408.hp2 HG00438.hp2 HG01109.hp1 HG01358.hp2 HG02451.hp2 HG02698.hp1 HG03017.hp2 HG03041.hp1 HG03540.hp2 HG04199.hp1 NA18948.hp1 NA18963.hp2 NA19010.hp2 NA19072.hp1 NA19084.hp1	a0005 a0008 a0009 others(3): Show a0005 a0008 a0009 a0017 a0021 a0031	a0005c0006 a0005c0051 a0008c0014 others(5): Show a0005c0006 a0005c0051 a0008c0014 a0008c0019 a0009c0013 a0017c0052 a0021c0020 a0031c0031	a0005c0006t0001 a0005c0051t0001 a0008c0014t0001 others(5): Show a0005c0006t0001 a0005c0051t0001 a0008c0014t0001 a0008c0019t0001 a0009c0013t0001 a0017c0052t0001 a0021c0020t0001 a0031c0031t0001	a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 others(12): Show a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 a0005c0006t0001g0140 a0005c0006t0001g0141 a0005c0006t0001g0142 a0005c0051t0001g0137 a0008c0014t0001g0133 a0008c0014t0001g0134 a0008c0019t0001g0004 a0009c0013t0001g0131 a0009c0013t0001g0132 a0017c0052t0001g0135 a0021c0020t0001g0005 a0031c0031t0001g0029	15	224	0.0670	9	c.747 others(26): Show c.747-5410_747-5402dupAATAACTTC		NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	9/51						chr2	TogoVar
NBAS_chr2_15161916_15566334	15528876	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG02559.hp2 HG02723.hp2	a0001 a0027 a0001 a0027	a0001c0003 a0027c0029 a0001c0003 a0027c0029	a0001c0003t0001 a0027c0029t0001 a0001c0003t0001 a0027c0029t0001	a0001c0003t0001g0014 a0027c0029t0001g0031 a0001c0003t0001g0014 a0027c0029t0001g0031	2	224	0.0089	9	c.746 others(26): Show c.746+5666_746+5667insATATATATA		NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	9/51						chr2	TogoVar
NBAS_chr2_15161916_15566334	15528878	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02896.hp1 others(2): Show HG02109.hp1 HG02451.hp1 HG02896.hp1 NA19080.hp1 NA19240.hp2	a0001 a0003 a0012 others(1): Show a0001 a0003 a0012 a0028	a0001c0003 a0003c0011 a0012c0027 others(1): Show a0001c0003 a0003c0011 a0012c0027 a0028c0026	a0001c0003t0001 a0003c0011t0001 a0012c0027t0001 others(1): Show a0001c0003t0001 a0003c0011t0001 a0012c0027t0001 a0028c0026t0001	a0001c0003t0001g0023 a0001c0003t0001g0039 a0003c0011t0001g0022 others(2): Show a0001c0003t0001g0023 a0001c0003t0001g0039 a0003c0011t0001g0022 a0012c0027t0001g0026 a0028c0026t0001g0021	5	224	0.0223	9	c.746 others(26): Show c.746+5664_746+5665insATATATATA		NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	9/51						chr2	TogoVar
NBAS_chr2_15161916_15566334	15542875	A A	AGGGATTT others(2): Show AGGGATTTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02257.hp1 others(9): Show HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG02809.hp2 HG02897.hp2 HG03195.hp2 NA19030.hp2 NA19080.hp1 NA19240.hp2	a0001 a0003 a0011 others(2): Show a0001 a0003 a0011 a0027 a0028	a0001c0003 a0003c0011 a0011c0012 others(2): Show a0001c0003 a0003c0011 a0011c0012 a0027c0029 a0028c0026	a0001c0003t0001 a0003c0011t0001 a0011c0012t0001 others(2): Show a0001c0003t0001 a0003c0011t0001 a0011c0012t0001 a0027c0029t0001 a0028c0026t0001	a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 others(9): Show a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0039 a0003c0011t0001g0022 a0003c0011t0001g0034 a0011c0012t0001g0032 a0011c0012t0001g0143 a0027c0029t0001g0031 a0028c0026t0001g0021	12	224	0.0536	9	c.380 others(26): Show c.380-3528_380-3520dupGCAAATCCC		NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	6/51						chr2	TogoVar
NBAS_chr2_15161916_15566334	15559062	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02738.hp1 HG03491.hp1 others(5): Show HG02602.hp1 HG02738.hp1 HG03491.hp1 HG03834.hp1 NA18977.hp1 NA18991.hp2 NA19072.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 others(5): Show a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216	8	224	0.0357	9	c.118 others(24): Show c.118-437_118-429dupTTTTTTTTT		NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	1/51						chr2	TogoVar
NBDY_chrX_56724243_56824179	56730513	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18906.hp1 HG02486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0013 a0001c0001t0017g0012 a0001c0001t0003g0013 a0001c0001t0017g0012	2	160	0.0125	9	c.29 others(24): Show c.29+949_*29+957dupAAAAAAAAA		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
NBEAL1_chr2_203009875_203230194	203141341	G G	GATTATTA others(2): Show GATTATTATT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02523.hp1 HG02897.hp1 others(3): Show HG02293.hp2 HG02523.hp1 HG02897.hp1 NA18969.hp2 NA18981.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0234 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0013g0251	6	292	0.0206	9	c.484 others(28): Show c.4848+2612_4848+2620dupATTATTATT		NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203141366	A A	ATTATTAT others(2): Show ATTATTATTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01256.hp1 HG01257.hp2 others(3): Show HG00408.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG02300.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0185 a0001c0001t0001g0267 a0001c0024t0001g0005	6	292	0.0206	9	c.484 others(28): Show c.4848+2620_4848+2621insATTATTTTT		NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203180933	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02559.hp2 others(4): Show HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02976.hp1 HG03139.hp1 NA19043.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0003 others(1): Show a0001c0001 a0001c0009 a0003c0003 a0003c0012	a0001c0001t0041 a0001c0009t0007 a0003c0003t0004 others(1): Show a0001c0001t0041 a0001c0009t0007 a0003c0003t0004 a0003c0012t0011	a0001c0001t0041g0054 a0001c0009t0007g0055 a0001c0009t0007g0056 others(4): Show a0001c0001t0041g0054 a0001c0009t0007g0055 a0001c0009t0007g0056 a0001c0009t0007g0057 a0003c0003t0004g0031 a0003c0012t0011g0025 a0003c0012t0011g0043	7	292	0.0240	9	c.659 others(26): Show c.6595+435_6595+443dupTTTTTTTTT		NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	43/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEA_chr13_34937270_35677736	35006496	A A	ATAAACAT others(2): Show ATAAACATAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG02165.hp2 others(5): Show HG00408.hp1 HG00642.hp2 HG02165.hp2 HG04184.hp2 NA18960.hp2 NA18979.hp2 NA18990.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012	a0001c0001t0002g0046 a0001c0001t0004g0035 a0001c0001t0007g0025 others(5): Show a0001c0001t0002g0046 a0001c0001t0004g0035 a0001c0001t0007g0025 a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0007g0094 a0001c0001t0007g0117 a0001c0001t0012g0032	8	122	0.0656	9	c.295 others(28): Show c.295-34432_295-34424dupCATAGTAAA		NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	1/58					INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35476296	C C	CCTGCTGC others(2): Show CCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02602.hp2 HG02647.hp2 others(2): Show HG00544.hp2 HG02602.hp2 HG02647.hp2 NA19030.hp1 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0025 a0003c0011 a0001c0001 a0001c0025 a0003c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0025t0001 a0003c0011t0003	a0001c0001t0001g0069 a0001c0001t0003g0071 a0001c0001t0020g0090 others(2): Show a0001c0001t0001g0069 a0001c0001t0003g0071 a0001c0001t0020g0090 a0001c0025t0001g0080 a0003c0011t0003g0026	5	122	0.0410	9	c.658 others(28): Show c.6585+3811_6585+3819dupGCTGCTGCT		NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	41/58					INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35522475	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18960.hp2 NA18979.hp1 others(2): Show HG00558.hp1 NA18960.hp2 NA18979.hp1 NA18994.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0009t0011	a0001c0001t0001g0037 a0001c0001t0003g0074 a0001c0001t0004g0035 others(2): Show a0001c0001t0001g0037 a0001c0001t0003g0074 a0001c0001t0004g0035 a0001c0001t0011g0070 a0001c0009t0011g0100	5	122	0.0410	9	c.658 others(30): Show c.6586-27979_6586-27971dupAAAAAAAAA		NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	41/58					INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35539915	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00597.hp2 others(10): Show HG00280.hp1 HG00408.hp2 HG00597.hp2 HG00673.hp2 HG01496.hp2 HG02155.hp2 HG02647.hp2 HG02896.hp1 HG03017.hp2 HG03139.hp1 HG03225.hp1 NA18971.hp2 NA19057.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0002c0020 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0005t0004 a0002c0004t0001 a0002c0004t0003 a0002c0020t0001 a0003c0011t0003	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0002g0060 others(10): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0002g0060 a0001c0001t0002g0114 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0002t0001g0019 a0001c0002t0001g0057 a0001c0005t0004g0013 a0002c0004t0001g0020 a0002c0004t0003g0018 a0002c0020t0001g0021 a0003c0011t0003g0026	13	122	0.1066	9	c.658 others(30): Show c.6586-10543_6586-10535dupAAAAAAAAA		NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	41/58					INFO_REALIGN_3_PRIME	chr13	TogoVar
NBL1_chr1_19639311_19663452	19642750	T T	TAACAACA others(2): Show TAACAACAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02965.hp1 others(3): Show HG02109.hp2 HG02615.hp1 HG02965.hp1 HG03516.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0004g0030 a0001c0001t0004g0111 a0001c0001t0004g0113 others(3): Show a0001c0001t0004g0030 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0006g0112	6	412	0.0146	9	c.-17 others(20): Show c.-1716_-1715insAACAACAAC		NBL1	ENSG00000158747.15	transcript	ENST00000375136.8	protein_coding					1560		chr1	TogoVar
NBL1_chr1_19639311_19663452	19659587	A A	AAAAAAAA others(2): Show AAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00642.hp1 others(24): Show HG00140.hp2 HG00408.hp1 HG00642.hp1 HG01123.hp2 HG01168.hp1 HG01496.hp2 HG01928.hp2 HG02004.hp1 HG02040.hp2 HG02080.hp1 HG02165.hp1 HG02735.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 NA18939.hp2 NA18942.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp1 NA18969.hp1 NA18989.hp2 NA19000.hp1 NA19057.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0030	a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0018 others(20): Show a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0047 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0143 a0001c0001t0002g0183 a0001c0001t0002g0197 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0242 a0001c0001t0005g0004 a0001c0001t0005g0084 a0001c0001t0005g0103 a0001c0001t0014g0004 a0001c0001t0014g0054 a0001c0001t0014g0091 a0001c0001t0030g0079	27	412	0.0655	9	c.24 others(20): Show c.2458_*2459insAAAAAAAAG		NBL1	ENSG00000158747.15	transcript	ENST00000375136.8	protein_coding					1136		chr1	TogoVar
NBPF10_chr1_146059711_146149804	146132913	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG03688.hp1 others(3): Show HG02572.hp1 HG02818.hp1 HG03688.hp1 HG06807.hp2 NA18953.hp2 NA19240.hp1	a0143 a0155 a0165 others(3): Show a0143 a0155 a0165 a0205 a0207 a0209	a0143c0189 a0155c0170 a0165c0160 others(3): Show a0143c0189 a0155c0170 a0165c0160 a0205c0227 a0207c0224 a0209c0223	a0143c0189t0003 a0155c0170t0003 a0165c0160t0003 others(3): Show a0143c0189t0003 a0155c0170t0003 a0165c0160t0003 a0205c0227t0007 a0207c0224t0007 a0209c0223t0007	a0143c0189t0003g0207 a0155c0170t0003g0215 a0165c0160t0003g0210 others(3): Show a0143c0189t0003g0207 a0155c0170t0003g0215 a0165c0160t0003g0210 a0205c0227t0007g0218 a0207c0224t0007g0220 a0209c0223t0007g0265	6	283	0.0212	9	c.158 others(26): Show c.1585+601_1585+609dupTTTTTTTTT		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	10/89						chr1	TogoVar
NBPF11_chr1_148097151_148157281	148121348	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp1 HG01934.hp1 others(24): Show HG00597.hp1 HG00733.hp1 HG01934.hp1 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02155.hp1 NA18612.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18966.hp2 NA18981.hp1 NA18984.hp2 NA18994.hp1 NA18999.hp2 NA19001.hp1 NA19054.hp1 NA19057.hp1 NA19087.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp1	a0000 a0000	a0000c0002 a0000c0041 a0000c0002 a0000c0041	a0000c0002t0002 a0000c0002t0040 a0000c0002t0041 others(1): Show a0000c0002t0002 a0000c0002t0040 a0000c0002t0041 a0000c0041t0002	a0000c0002t0002g0008 a0000c0002t0002g0009 a0000c0002t0002g0296 others(22): Show a0000c0002t0002g0008 a0000c0002t0002g0009 a0000c0002t0002g0296 a0000c0002t0002g0300 a0000c0002t0002g0306 a0000c0002t0002g0308 a0000c0002t0002g0309 a0000c0002t0002g0312 a0000c0002t0002g0333 a0000c0002t0002g0334 a0000c0002t0002g0336 a0000c0002t0002g0337 a0000c0002t0002g0339 a0000c0002t0002g0340 a0000c0002t0002g0342 a0000c0002t0002g0344 a0000c0002t0002g0346 a0000c0002t0002g0347 a0000c0002t0002g0348 a0000c0002t0002g0352 a0000c0002t0002g0357 a0000c0002t0002g0368 a0000c0002t0040g0298 a0000c0002t0041g0363 a0000c0041t0002g0367	27	388	0.0696	9	c.779 others(24): Show c.779-647_779-639dupAAAAAAAAA		NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	9/23						chr1	TogoVar
NBPF11_chr1_148097151_148157281	148121359	T T	TTTTTTTT others(2): Show TTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01070.hp2 others(12): Show HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01975.hp1 HG01981.hp1 NA18970.hp1 NA18977.hp2 NA18982.hp1 NA18988.hp1	a0000 a0000	a0000c0002 a0000c0037 a0000c0002 a0000c0037	a0000c0002t0002 a0000c0002t0042 a0000c0037t0002 a0000c0002t0002 a0000c0002t0042 a0000c0037t0002	a0000c0002t0002g0001 a0000c0002t0002g0007 a0000c0002t0002g0313 others(7): Show a0000c0002t0002g0001 a0000c0002t0002g0007 a0000c0002t0002g0313 a0000c0002t0002g0323 a0000c0002t0002g0325 a0000c0002t0002g0326 a0000c0002t0002g0328 a0000c0002t0002g0329 a0000c0002t0042g0324 a0000c0037t0002g0321	15	388	0.0387	9	c.779 others(24): Show c.779-650_779-649insGAAAAAAAA		NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	9/23						chr1	TogoVar
NBPF12_chr1_146933324_147001198	146937651	G G	GAAGGTGT others(2): Show GAAGGTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00609.hp1 others(65): Show HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG03704.hp2 HG04204.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18968.hp1 NA18970.hp1 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19070.hp1 NA19070.hp2 NA19085.hp2	a0001 a0002 a0005 others(13): Show a0001 a0002 a0005 a0007 a0008 a0009 a0010 a0014 a0016 a0020 a0021 a0022 a0028 a0031 a0032 a0035	a0001c0001 a0001c0014 a0002c0002 others(19): Show a0001c0001 a0001c0014 a0002c0002 a0002c0006 a0002c0034 a0005c0007 a0007c0049 a0007c0050 a0008c0015 a0008c0016 a0009c0036 a0009c0037 a0010c0009 a0014c0048 a0016c0032 a0020c0038 a0021c0035 a0022c0033 a0028c0021 a0031c0019 a0032c0020 a0035c0013	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(24): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0014t0002 a0002c0002t0003 a0002c0002t0013 a0002c0002t0024 a0002c0006t0005 a0002c0034t0003 a0005c0007t0006 a0005c0007t0014 a0007c0049t0009 a0007c0050t0017 a0008c0015t0022 a0008c0016t0021 a0009c0036t0003 a0009c0037t0005 a0010c0009t0003 a0014c0048t0009 a0016c0032t0003 a0020c0038t0005 a0021c0035t0003 a0022c0033t0003 a0028c0021t0023 a0031c0019t0019 a0032c0020t0018 a0035c0013t0002	a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 others(64): Show a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0008g0102 a0001c0001t0008g0113 a0001c0001t0008g0115 a0001c0001t0011g0002 a0001c0014t0002g0104 a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0032 a0002c0002t0013g0006 a0002c0002t0013g0007 a0002c0002t0024g0016 a0002c0006t0005g0005 a0002c0006t0005g0017 a0002c0006t0005g0018 a0002c0006t0005g0019 a0002c0006t0005g0020 a0002c0006t0005g0021 a0002c0034t0003g0030 a0005c0007t0006g0086 a0005c0007t0006g0087 a0005c0007t0006g0090 a0005c0007t0014g0085 a0007c0049t0009g0120 a0007c0050t0017g0119 a0008c0015t0022g0080 a0008c0016t0021g0081 a0009c0036t0003g0031 a0009c0037t0005g0023 a0010c0009t0003g0008 a0010c0009t0003g0009 a0014c0048t0009g0118 a0016c0032t0003g0004 a0020c0038t0005g0022 a0021c0035t0003g0027 a0022c0033t0003g0028 a0028c0021t0023g0029 a0031c0019t0019g0089 a0032c0020t0018g0088 a0035c0013t0002g0100	68	122	0.5574	9	c.-21 others(20): Show c.-2111_-2110insAAGGTGTTT		NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding					672		chr1	TogoVar
NBPF12_chr1_146933324_147001198	146954389	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02273.hp2 NA18950.hp2 others(1): Show HG01943.hp2 HG02273.hp2 NA18950.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 others(1): Show a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0101	4	122	0.0328	9	c.-18 others(28): Show c.-184+2916_-184+2924dupAAAAAAAAA		NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	5/36					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF12_chr1_146933324_147001198	146965791	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01928.hp1 others(8): Show HG00609.hp1 HG00609.hp2 HG01928.hp1 HG02056.hp1 HG02273.hp2 HG02451.hp1 HG02602.hp2 HG02965.hp2 NA18906.hp1 NA18939.hp2 NA19010.hp1	a0001 a0004 a0029 others(1): Show a0001 a0004 a0029 a0034	a0001c0001 a0004c0003 a0029c0044 others(1): Show a0001c0001 a0004c0003 a0029c0044 a0034c0018	a0001c0001t0002 a0004c0003t0004 a0029c0044t0004 others(1): Show a0001c0001t0002 a0004c0003t0004 a0029c0044t0004 a0034c0018t0007	a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0099 others(8): Show a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0114 a0004c0003t0004g0064 a0004c0003t0004g0068 a0029c0044t0004g0059 a0034c0018t0007g0077	11	122	0.0902	9	c.779 others(24): Show c.779-652_779-644dupAAAAAAAAA		NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	11/36					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF12_chr1_146933324_147001198	146981282	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18939.hp2 NA18949.hp2 HG02451.hp2 NA18939.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0091 a0001c0001t0002g0114 a0001c0001t0008g0102 a0001c0001t0002g0091 a0001c0001t0002g0114 a0001c0001t0008g0102	3	122	0.0246	9	c.245 others(28): Show c.2451-1646_2451-1645insTATATATAT		NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	22/36						chr1	TogoVar
NBPF12_chr1_146933324_147001198	146984940	T T	TACGTATT others(2): Show TACGTATTGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02293.hp1 HG02602.hp1 HG03239.hp2 HG04204.hp1 NA18906.hp2 NA18939.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18970.hp1 NA19002.hp1 NA19010.hp2 NA19070.hp2 NA19085.hp2	a0002 a0009 a0010 others(5): Show a0002 a0009 a0010 a0016 a0020 a0021 a0022 a0028	a0002c0002 a0002c0006 a0002c0034 others(8): Show a0002c0002 a0002c0006 a0002c0034 a0009c0036 a0009c0037 a0010c0009 a0016c0032 a0020c0038 a0021c0035 a0022c0033 a0028c0021	a0002c0002t0003 a0002c0002t0013 a0002c0002t0024 others(10): Show a0002c0002t0003 a0002c0002t0013 a0002c0002t0024 a0002c0006t0005 a0002c0034t0003 a0009c0036t0003 a0009c0037t0005 a0010c0009t0003 a0016c0032t0003 a0020c0038t0005 a0021c0035t0003 a0022c0033t0003 a0028c0021t0023	a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0032 a0002c0002t0013g0006 a0002c0002t0013g0007 a0002c0002t0024g0016 a0002c0006t0005g0005 a0002c0006t0005g0017 a0002c0006t0005g0018 a0002c0006t0005g0019 a0002c0006t0005g0020 a0002c0006t0005g0021 a0002c0034t0003g0030 a0009c0036t0003g0031 a0009c0037t0005g0023 a0010c0009t0003g0008 a0010c0009t0003g0009 a0016c0032t0003g0004 a0020c0038t0005g0022 a0021c0035t0003g0027 a0022c0033t0003g0028 a0028c0021t0023g0029	30	122	0.2459	9	c.279 others(18): Show c.2796_2804dupCGTATTGGA	p.Leu others(22): Show p.Leu934_Glu935insAspValLeu	NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	25/37	4243/7435	2805/4374	935/1457		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF14_chr1_148526385_148601011	148583868	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02145.hp2 HG02451.hp1 others(7): Show HG01256.hp1 HG02145.hp2 HG02451.hp1 HG02922.hp2 HG02965.hp2 HG03225.hp1 NA18612.hp1 NA19087.hp1 NA19240.hp2 NA20300.hp1	a0002 a0027 a0030 others(6): Show a0002 a0027 a0030 a0031 a0062 a0064 a0083 a0086 a0107	a0002c0104 a0027c0020 a0030c0084 others(7): Show a0002c0104 a0027c0020 a0030c0084 a0031c0077 a0031c0080 a0062c0117 a0064c0047 a0083c0081 a0086c0097 a0107c0041	a0002c0104t0001 a0027c0020t0001 a0030c0084t0001 others(7): Show a0002c0104t0001 a0027c0020t0001 a0030c0084t0001 a0031c0077t0001 a0031c0080t0001 a0062c0117t0001 a0064c0047t0001 a0083c0081t0001 a0086c0097t0001 a0107c0041t0023	a0002c0104t0001g0023 a0027c0020t0001g0041 a0030c0084t0001g0022 others(7): Show a0002c0104t0001g0023 a0027c0020t0001g0041 a0030c0084t0001g0022 a0031c0077t0001g0028 a0031c0080t0001g0026 a0062c0117t0001g0016 a0064c0047t0001g0005 a0083c0081t0001g0024 a0086c0097t0001g0027 a0107c0041t0023g0003	10	222	0.0451	9	c.158 others(26): Show c.1585+594_1585+602dupTTTTTTTTT		NBPF14	ENSG00000270629.7	transcript	ENST00000619423.4	protein_coding	11/70						chr1	TogoVar
NBPF15_chr1_144416390_144466669	144463598	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01192.hp2 HG01496.hp1 others(13): Show HG01071.hp2 HG01192.hp2 HG01496.hp1 HG01993.hp1 HG02109.hp1 HG02273.hp1 HG02300.hp2 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03492.hp1 NA19030.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0002 a0002c0014 a0003c0005 others(1): Show a0001c0002 a0002c0014 a0003c0005 a0011c0015	a0001c0002t0001 a0002c0014t0013 a0003c0005t0003 others(1): Show a0001c0002t0001 a0002c0014t0013 a0003c0005t0003 a0011c0015t0007	a0001c0002t0001g0001 a0001c0002t0001g0056 a0001c0002t0001g0058 others(13): Show a0001c0002t0001g0001 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0139 a0001c0002t0001g0161 a0001c0002t0001g0225 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0306 a0002c0014t0013g0019 a0003c0005t0003g0024 a0003c0005t0003g0033 a0011c0015t0007g0017	16	394	0.0406	9	c.-31 others(20): Show c.-3156_-3155insTTTTTTTTT		NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding					1930		chr1	TogoVar

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Search Results (Total: 10000 hits)