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
VPS53_chr17_503668_719839	548435	TATCCAAC others(91): Show TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC ATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG04184.hp2 HG01081.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0120 a0001c0001t0117 a0001c0001t0120	a0001c0001t0117g0230 a0001c0001t0120g0211 a0001c0001t0117g0230 a0001c0001t0120g0211	2	232	0.0086	-98	c.186 others(117): Show c.1866+3339_1866+3436delGATTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCA AAGTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548484	CATCCAAC others(91): Show CATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC ATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01256.hp1 HG01258.hp1 others(11): Show HG00140.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp2 HG02280.hp2 HG02300.hp2 HG03942.hp2 NA18940.hp1 NA19007.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0030 a0001c0001t0123 a0001c0002t0017 others(8): Show a0001c0001t0030 a0001c0001t0123 a0001c0002t0017 a0001c0002t0022 a0001c0002t0026 a0001c0002t0038 a0001c0002t0125 a0001c0002t0143 a0001c0002t0149 a0001c0007t0012 a0001c0007t0023	a0001c0001t0030g0119 a0001c0001t0030g0120 a0001c0001t0123g0123 others(11): Show a0001c0001t0030g0119 a0001c0001t0030g0120 a0001c0001t0123g0123 a0001c0002t0017g0225 a0001c0002t0022g0085 a0001c0002t0026g0059 a0001c0002t0026g0060 a0001c0002t0038g0224 a0001c0002t0125g0116 a0001c0002t0143g0226 a0001c0002t0149g0202 a0001c0007t0012g0108 a0001c0007t0012g0110 a0001c0007t0023g0107	14	232	0.0603	-98	c.186 others(117): Show c.1866+3290_1866+3387delATTTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCA AAGTGGAGTGTAGTTGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548492	AACTACAC others(91): Show AACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACG ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0117 a0001c0001t0106g0117	1	232	0.0043	-98	c.186 others(117): Show c.1866+3282_1866+3379delCGTTGGATATTTCCAGAAGGACTGTT GGCTGGCCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTG GCTGGCCAAAGTGGAGTGTAGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
WDFY3_chr4_84664597_84971690	84806499	CTGTAAAT others(91): Show CTGTAAATGATGACAATATGTTTTTGATTTAAGGCCATAAGTAACTCTTT AAGAATAAAAAGAGAATGCTGTTTTCCCTTTGTCAAATTACCATTTCAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0120 a0001c0016t0001g0120	1	242	0.0041	-98	c.242 others(117): Show c.2429+1737_2429+1834delTTGAAATGGTAATTTGACAAAGGGAA AACAGCATTCTCTTTTTATTCTTAAAGAGTTACTTATGGCCTTAAATCAA AAACATATTGTCATCATTTACA	WDFY3	ENSG00000163625.17	transcript	ENST00000295888.9	protein_coding	15/67			chr4	TogoVar
WFIKKN1_chr16_625985_639117	631789	ACTCCTCC others(91): Show ACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACCCCGTCACTGCCT CTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCATCCT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02451.hp2 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0016 a0001c0003t0001g0016	2	404	0.0050	-98	c.171 others(113): Show c.171+368_171+465delCCTCCCATCCACTTCTTCCATCCTCTTCTC CCACCCCGTCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCAT CCACTTCTTCCATCCTCT	WFIKKN1	ENSG00000127578.7	transcript	ENST00000319070.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
YTHDC2_chr5_113508694_113600284	113587231	TCATATAT others(91): Show TCATATATAATATATAAATATATATTATGTATTCATATATAATATATAAA TATATATTATGTATTCATATATAATATATAAATATATATTATGTATTCA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0193 a0003c0003t0002g0193	1	316	0.0032	-98	c.382 others(117): Show c.3825+2753_3825+2850delCATATATAATATATAAATATATATTA TGTATTCATATATAATATATAAATATATATTATGTATTCATATATAATAT ATAAATATATATTATGTATTCA	YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29			chr5	TogoVar
YTHDC2_chr5_113508694_113600284	113587328	CATATATA others(91): Show CATATATAATATATAAATATATATTATGTATTCATATATAATATATAAAT ATATATTATGTATTCATATATAATATATAAATATATATTATGTATTCAT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03209.hp2 NA19240.hp1 HG02970.hp2 HG03209.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0014 a0002c0002t0003 a0002c0002t0014	a0002c0002t0003g0256 a0002c0002t0003g0272 a0002c0002t0014g0262 a0002c0002t0003g0256 a0002c0002t0003g0272 a0002c0002t0014g0262	3	316	0.0095	-98	c.382 others(117): Show c.3825+2855_3825+2952delTAATATATAAATATATATTATGTATT CATATATAATATATAAATATATATTATGTATTCATATATAATATATAAAT ATATATTATGTATTCATATATA	YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZDHHC19_chr3_196192452_196216400	196207637	GCCCCTGG others(91): Show GCCCCTGGCCCCGCCCCCAGGCCCGACTCCGCCCCGAGCCCCGCCCCGCC CCCGGACGCCCGCCCCTCAGGCCCGACTCCGCCCCGAGCCCCGCCCCGC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	442	0.0023	-98	c.582 others(113): Show c.582-232_582-135delGCGGGGCGGGGCTCGGGGCGGAGTCGGGCC TGAGGGGCGGGCGTCCGGGGGCGGGGCGGGGCTCGGGGCGGAGTCGGGCC TGGGGGCGGGGCCAGGGG	ZDHHC19	ENSG00000163958.14	transcript	ENST00000296326.8	protein_coding	4/7			chr3	TogoVar
ZNF100_chr19_21717771_21772579	21721699	CCCCCCAC others(91): Show CCCCCCACCCGGCCAGCCGCCCCGTCCAGGAGGGGGGAGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0022 a0002c0001t0022	a0002c0001t0022g0091 a0002c0001t0022g0091	1	365	0.0027	-98	c.48 others(109): Show c.4886_*4983delCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCTCCCCCCTCCTGGACGGGGCGGC TGGCCGGGTGGGGG	ZNF100	ENSG00000197020.12	transcript	ENST00000358296.11	protein_coding		1071		chr19	TogoVar
ZNF430_chr19_21015657_21065050	21019589	TATATATA others(91): Show TATATATATAAATATATAAATATATAAATATATATATATAAATATATAAA TATTTATATATAAATATATATAAATATATAAATATATATAAATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02622.hp2 HG02809.hp2 others(8): Show HG01361.hp1 HG02622.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0028 a0001c0001t0004g0234 a0001c0001t0004g0236 others(7): Show a0001c0001t0004g0028 a0001c0001t0004g0234 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0021g0235	11	298	0.0369	-98	c.-12 others(109): Show c.-1211_-1114delATATATATAAATATATAAATATATAAATATATAT ATATAAATATATAAATATTTATATATAAATATATATAAATATATAAATAT ATATAAATATATAA	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		1067		chr19	TogoVar
ZNF548_chr19_57384854_57407992	57407614	ACTATACT others(91): Show ACTATACTGCCCAGGCTGGTCTCGAACTCCTAGACTCAAATGATCCTTCC ACCTCCACCTTTCAAAGTACTGGGATTACAGGCATGAGCCACTGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	426	0.0024	-98	c.77 others(109): Show c.7726_*7823delCTATACTGCCCAGGCTGGTCTCGAACTCCTAGAC TCAAATGATCCTTCCACCTCCACCTTTCAAAGTACTGGGATTACAGGCAT GAGCCACTGTGCCC	ZNF548	ENSG00000188785.12	transcript	ENST00000336128.12	protein_coding		4623		chr19	TogoVar
ZNF609_chr15_64455578_64691068	64577358	CATATATG others(91): Show CATATATGTATATATATACACATATAAATATATACACATATATGTATATA TATACACATATAAATATATACACATATATGTATATATATACACATATAA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0042 a0001c0003t0001g0042	1	176	0.0057	-98	c.748 others(117): Show c.748-45462_748-45365delGTATATATATACACATATAAATATAT ACACATATATGTATATATATACACATATAAATATATACACATATATGTAT ATATATACACATATAAATATAT	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF713_chr7_55882456_55947225	55887713	AGGCGGAG others(91): Show AGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCG GGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG01070.hp2 others(40): Show HG00621.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG02015.hp1 HG02027.hp1 HG02109.hp1 HG02155.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG03041.hp2 HG03225.hp2 HG03239.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG04204.hp1 HG06807.hp2 NA18951.hp1 NA18954.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA19003.hp1 NA19006.hp1 NA19011.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19072.hp1 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0023 a0001c0001t0060 others(9): Show a0001c0001t0008 a0001c0001t0023 a0001c0001t0060 a0001c0001t0061 a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0020 a0001c0002t0021 a0001c0002t0059 a0001c0002t0074	a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0008g0172 others(39): Show a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0008g0172 a0001c0001t0008g0173 a0001c0001t0008g0174 a0001c0001t0008g0184 a0001c0001t0023g0152 a0001c0001t0023g0153 a0001c0001t0023g0154 a0001c0001t0060g0175 a0001c0001t0061g0176 a0001c0002t0001g0006 a0001c0002t0001g0269 a0001c0002t0001g0306 a0001c0002t0001g0309 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0319 a0001c0002t0001g0321 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0006g0307 a0001c0002t0006g0310 a0001c0002t0006g0318 a0001c0002t0010g0327 a0001c0002t0010g0328 a0001c0002t0010g0329 a0001c0002t0010g0330 a0001c0002t0010g0333 a0001c0002t0011g0305 a0001c0002t0011g0320 a0001c0002t0020g0322 a0001c0002t0021g0312 a0001c0002t0059g0308 a0001c0002t0074g0311	43	410	0.1049	-98	c.-58 others(114): Show c.-583+39_-583+136delAGGCGGGGGGCGGAGGCGGGGGGCGGAGG CGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGA GGCGGGGGGCGGCGGGCGG	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABR_chr17_998519_1184981	1163750	CCCTGGCA others(90): Show CCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGGCCCCAG ATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAGGTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	1	337	0.0030	-97	c.61+ others(114): Show c.61+15820_61+15916delCACCTAGATGCTCCGACATCCATGTTCA CTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGGATTCAGTGCTG TGTGTGACACTTTGCCAGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1163952	CCCTGGCG others(90): Show CCCTGGCGAAGTGTCACACACAGCACTGAATCCAGACGCAGGGGCCCCAG ATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAGGTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG01891.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0012 a0001c0001t0008 a0001c0003t0012	a0001c0001t0008g0007 a0001c0003t0012g0105 a0001c0001t0008g0007 a0001c0003t0012g0105	2	337	0.0059	-97	c.61+ others(114): Show c.61+15618_61+15714delCACCTAGATGCTCCGACATCCATGTTCA CTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGGATTCAGTGCTG TGTGTGACACTTCGCCAGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100162525	TATACACA others(90): Show TATACACATTATATGTGTATATATATGCACATATACACATTATATGTGTA TATATATGCACATATACACATTATATGTGTATATATATGCACATATAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0051 a0002c0051	a0002c0051t0015 a0002c0051t0015	a0002c0051t0015g0090 a0002c0051t0015g0090	1	228	0.0044	-97	c.118 others(116): Show c.1182-7302_1182-7206delGTATATGTGCATATATATACACATAT AATGTGTATATGTGCATATATATACACATATAATGTGTATATGTGCATAT ATATACACATATAATGTGTAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1237901	TCTCCCTC others(90): Show TCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	106	0.0094	-97	c.136 others(116): Show c.1361+4133_1362-4057delGGGGGGAGTAAACACCGGGAGGCAGA GGGGAGTAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGGGAGAGG GGAGTAAACACCGGGAGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238437	TACTCCCC others(90): Show TACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCA CTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0026 a0001c0001t0011g0026	1	106	0.0094	-97	c.136 others(116): Show c.1361+3597_1361+3693delGAACACCGGGAGGCAGAGGGGAGTAA ACACCGGGAGGGAGAGGGGGAGTGAACACCGGGAGGCAGAGGGGAGTAAA CACCGGGAGGAAGAGGGGAGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239352	TACTCCCC others(90): Show TACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0020 a0002c0004t0028g0020	1	106	0.0094	-97	c.136 others(116): Show c.1361+2682_1361+2778delGAACACCGGGAGGCAGAGGGGAGTAA ACACCGGGAGGGAGAGGGGAGTAAACACCGGGAGGCAGGGGGGAGTAAAC ACCGGGAGGGAGAGGGGGAGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1240109	GCCTCCCG others(90): Show GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTC	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0020 a0002c0004t0028g0020	1	106	0.0094	-97	c.136 others(116): Show c.1361+1925_1361+2021delGAGGGGGGAGTAAACACCGGGAGGCA GAGGGGAGTAAACACCGGGAGGCAGAGGGGGAGTAAACACCGGGAGGGAG AGGGGAGTAAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADCY4_chr14_24313359_24340071	24336304	TGTGGGCA others(90): Show TGTGGGCAAGGCAGTTGTCTGTTGCATAGTCAAGTAGTTGTTGTCTCCAA CTTGCACCCCAGAGCAGTTGTATATGTTAACGAGCGGTCGCCCTTTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	438	0.0023	-97	c.-17 others(108): Show c.-1749_-1653delTTAAAGGGCGACCGCTCGTTAACATATACAACTG CTCTGGGGTGCAAGTTGGAGACAACAACTACTTGACTATGCAACAGACAA CTGCCTTGCCCAC	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding		1234		chr14	TogoVar
AKT3_chr1_243494724_243855243	243620848	ACTTCCAT others(90): Show ACTTCCATCATGATATAATCACTTTGGACTCCAGTCTTTCTTCTGCCTCT CTCATACGCGGTATTGGGACAAGTTCATCTCTACCCTCTTAACTCTAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	301	0.0033	-97	c.562 others(114): Show c.562-5784_562-5688delATAGAGTTAAGAGGGTAGAGATGAACTT GTCCCAATACCGCGTATGAGAGAGGCAGAAGAAAGACTGGAGTCCAAAGT GATTATATCATGATGGAAG	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	6/13			chr1	TogoVar
ALDH1L2_chr12_105014790_105089458	105036156	ATATAATA others(90): Show ATATAATATATACACGTATATTTATATATGTGTATATAATATATACACGT ATATTTATATATGTGTATATAATATATACACGTATATTTATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0009 a0001c0001t0015g0009	1	386	0.0026	-97	c.214 others(116): Show c.2145+1850_2146-1759delCACATATATAAATATACGTGTATATA TTATATACACATATATAAATATACGTGTATATATTATATACACATATATA AATATACGTGTATATATTATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
AMTN_chr4_70513569_70537743	70516296	AAAAAAAT others(90): Show AAAAAAATATATATATATATATATATATACGTATATATATATATACGTAT ATATATACATATATATGTATATATATACATGTATATATATACGTATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	458	0.0022	-97	c.-23 others(108): Show c.-2373_-2277delAAAAAATATATATATATATATATATATACGTATA TATATATATACGTATATATATACATATATATGTATATATATACATGTATA TATATACGTATAT	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2272		chr4	TogoVar
AMTN_chr4_70513569_70537743	70516298	AAAAATAT others(90): Show AAAAATATATATATATATATATATATACGTATATATATATATACGTATAT ATATACATATATATGTATATATATACATGTATATATATACGTATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	458	0.0022	-97	c.-23 others(108): Show c.-2371_-2275delAAAATATATATATATATATATATATACGTATATA TATATATACGTATATATATACATATATATGTATATATATACATGTATATA TATACGTATATAT	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2270		chr4	TogoVar
ANHX_chr12_133213312_133240877	133235630	AGCGCCCC others(90): Show AGCGCCCCTCACCTTCCGGGACCCCCCGCCTCCGCGCCCCTTATCCTCCA GGACCCCCCCCGCCTGCGCGCCCCTCACCCTCTGGGACCCCCGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0262 a0002c0002t0002g0262	1	442	0.0023	-97	c.-23 others(111): Show c.-23+80_-23+176delGGGGGCGGGGGTCCCAGAGGGTGAGGGGCGC GCAGGCGGGGGGGGTCCTGGAGGATAAGGGGCGCGGAGGCGGGGGGTCCC GGAAGGTGAGGGGCGC	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	1/9			chr12	TogoVar
ANKRD11_chr16_89262630_89495561	89293574	GGAGGGAG others(90): Show GGAGGGAGGAGCTGGGGCAGAGTTGGGGCTGCGGAGGGAGGAGCTGGGGC GGTGTTGGGGCTGCGGAGGGGAGGAGGCGGGGTGGTATTGGGGCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18906.hp1 HG02622.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0215 a0002c0002t0002g0022 a0002c0002t0002g0215	2	310	0.0065	-97	c.227 others(114): Show c.227-2488_227-2392delTGCAGCCCCAATACCACCCCGCCTCCTC CCCTCCGCAGCCCCAACACCGCCCCAGCTCCTCCCTCCGCAGCCCCAACT CTGCCCCAGCTCCTCCCTC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	4/12			chr16	TogoVar
AP3S2_chr15_89825599_89898994	89854070	GGGGGGTC others(90): Show GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02273.hp1 HG01943.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0015 a0001c0001t0002g0016	2	312	0.0064	-97	c.346 others(116): Show c.346-16445_346-16349delACCTCCCTCCCGGACGGCATGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGC CGGGCGGGGGGGCTGACCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
ARHGAP21_chr10_24578614_24728887	24656694	GGGGGGGT others(90): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02738.hp2 HG03688.hp1 HG01934.hp1 HG02738.hp2 HG03688.hp1	a0002 a0015 a0002 a0015	a0002c0002 a0015c0023 a0002c0002 a0015c0023	a0002c0002t0001 a0002c0002t0007 a0015c0023t0001 a0002c0002t0001 a0002c0002t0007 a0015c0023t0001	a0002c0002t0001g0049 a0002c0002t0007g0007 a0015c0023t0001g0090 a0002c0002t0001g0049 a0002c0002t0007g0007 a0015c0023t0001g0090	3	352	0.0085	-97	c.268 others(116): Show c.268+10194_268+10290delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCC	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656705	CCCCCCGC others(90): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG01192.hp2 HG00639.hp1 HG01175.hp1 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0057 a0002c0002t0001g0128 a0002c0002t0001g0048 a0002c0002t0001g0057 a0002c0002t0001g0128	3	352	0.0085	-97	c.268 others(116): Show c.268+10183_268+10279delCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGG	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656754	CCCCCCGC others(90): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03209.hp2 HG01261.hp2 HG03209.hp2	a0005 a0019 a0005 a0019	a0005c0005 a0019c0020 a0005c0005 a0019c0020	a0005c0005t0001 a0019c0020t0001 a0005c0005t0001 a0019c0020t0001	a0005c0005t0001g0102 a0019c0020t0001g0112 a0005c0005t0001g0102 a0019c0020t0001g0112	2	352	0.0057	-97	c.268 others(116): Show c.268+10134_268+10230delCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGG	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656792	GGGGGGGT others(90): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp2 HG00438.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0127 a0002c0002t0001g0120 a0002c0002t0001g0127	2	352	0.0057	-97	c.268 others(116): Show c.268+10096_268+10192delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCC	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656841	GGGGGGGT others(90): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01884.hp1 others(12): Show HG00099.hp2 HG01081.hp2 HG01884.hp1 HG01981.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02523.hp1 NA18970.hp2 NA18975.hp2 NA18980.hp2 NA18987.hp1 NA18994.hp1 NA19002.hp1 NA19072.hp2	a0002 a0018 a0002 a0018	a0002c0002 a0018c0013 a0002c0002 a0018c0013	a0002c0002t0001 a0002c0002t0004 a0018c0013t0002 a0002c0002t0001 a0002c0002t0004 a0018c0013t0002	a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0050 others(12): Show a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0076 a0002c0002t0001g0111 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0148 a0002c0002t0001g0152 a0002c0002t0001g0256 a0002c0002t0001g0282 a0002c0002t0004g0295 a0018c0013t0002g0314	15	352	0.0426	-97	c.268 others(116): Show c.268+10047_268+10143delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCC	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656848	TCGGCCCC others(90): Show TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	352	0.0028	-97	c.268 others(116): Show c.268+10040_268+10136delCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCG	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP8_chr22_44747575_44867784	44801393	CATGTGTG others(90): Show CATGTGTGGGGGGCGCCCCTCCCCACAGCTGTCCATGTGTGGGGGCACCT CTCCCCGCAGCTGTCCGTGTGTGGGGGCACCTCTCCCCGCAGCTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0042 a0003c0042	a0003c0042t0002 a0003c0042t0002	a0003c0042t0002g0366 a0003c0042t0002g0366	1	390	0.0026	-97	c.80- others(110): Show c.80-672_80-576delGCGCCCCTCCCCACAGCTGTCCATGTGTGGGG GCACCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCACCTCTCCCCGCAGCT GTCTATGTGTGGGGG	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASCC3_chr6_100503194_100886329	100646464	CCATGCCC others(90): Show CCATGCCCGGCTAATTGCTATAATTTTTAAAATAAATCCTCAATATATAT TCTTTTTAGAGGATTTTCTATATGCCTTAGGAACAGATGTAGTTGAGT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG03516.hp1 others(1): Show HG02615.hp1 HG02809.hp2 HG03516.hp1 HG03579.hp2	a0007 a0018 a0007 a0018	a0007c0012 a0007c0025 a0018c0032 a0007c0012 a0007c0025 a0018c0032	a0007c0012t0009 a0007c0025t0017 a0018c0032t0019 a0007c0012t0009 a0007c0025t0017 a0018c0032t0019	a0007c0012t0009g0312 a0007c0012t0009g0313 a0007c0025t0017g0227 others(1): Show a0007c0012t0009g0312 a0007c0012t0009g0313 a0007c0025t0017g0227 a0018c0032t0019g0314	4	314	0.0127	-97	c.363 others(113): Show c.3633+54_3633+150delACTCAACTACATCTGTTCCTAAGGCATAT AGAAAATCCTCTAAAAAGAATATATATTGAGGATTTATTTTAAAAATTAT AGCAATTAGCCGGGCATG	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	22/41			chr6	TogoVar
ATP11A_chr13_112685038_112892168	112729467	CCAGAGTA others(90): Show CCAGAGTATCTAACGCGTCTGCGTGTGAACAGTGTCGGAAGGCACTGAGG CAGCGCAGTCCCCACCTTGGCATTGCAGGCCCGGAGTGTCTTACTCAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0002 a0014c0023t0002	a0014c0023t0002g0064 a0014c0023t0002g0064	1	254	0.0039	-97	c.39+ others(114): Show c.39+39014_39+39110delAGAGTATCTAACGCGTCTGCGTGTGAAC AGTGTCGGAAGGCACTGAGGCAGCGCAGTCCCCACCTTGGCATTGCAGGC CCGGAGTGTCTTACTCATC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATRNL1_chr10_115088365_115953999	115829053	AGTTTTCC others(90): Show AGTTTTCCTATCTGTAGAATTTCCCTCCATAAATATCACATGAAGACCAA AAGCCATAAGTGAAGATTTATAAAATATTTTTATCATAAGAGTGATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0047 a0001c0003t0047	a0001c0003t0047g0128 a0001c0003t0047g0128	1	128	0.0078	-97	c.390 others(118): Show c.3904-18822_3904-18726delTTTTCCTATCTGTAGAATTTCCCT CCATAAATATCACATGAAGACCAAAAGCCATAAGTGAAGATTTATAAAAT ATTTTTATCATAAGAGTGATATG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32177716	TATATAAA others(90): Show TATATAAATATATTTATATATTTATATAAAATATATATAAATATTTTAAT ATATATTTAATATATAAATATTTATAAAAATATAAATATTTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0148 a0001c0002t0003g0148	1	290	0.0035	-97	c.214 others(116): Show c.214-38523_214-38427delTATATTTATATATTTATATAAAATAT ATATAAATATTTTAATATATATTTAATATATAAATATTTATAAAAATATA AATATTTATATAAAATATAAA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BLOC1S2_chr10_100268293_100291680	100277558	GGGGTCAG others(90): Show GGGGTCAGCCCCCCGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGA GGGGGTCAGCCCCCCTGCCCAGCCAGCCACCCCGTCCAGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0213 a0002c0002t0007g0213	1	378	0.0027	-97	c.398 others(114): Show c.398-2162_398-2066delACCTCCCTCCTGGACGGGGTGGCTGGCT GGGCAGGGGGGCTGACCCCCTCCCACCTCCCTCCCGGACGGAGCGGCTGG CCGGGCGGGGGGCTGACCC	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BRIX1_chr5_34910711_34930996	34921863	TGCCATTG others(90): Show TGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGCATCGCAAAAA AAAAAAAAAAAAAAAGGAGGGAGGTTTCCAGTAATCAGAAGTGAGACC	T T	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	440	0.0023	-97	c.316 others(112): Show c.316-353_316-257delGCCATTGCACTCCAGCCTGGGCAACAAGAG CGAAACTGCATCGCAAAAAAAAAAAAAAAAAAAAGGAGGGAGGTTTCCAG TAATCAGAAGTGAGACC	BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	3/9			chr5	TogoVar
BRSK2_chr11_1384934_1467689	1418210	GGGCTGTT others(90): Show GGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGTCCTGCTTCTGTGG GCTGTTTCTTCTCTTGAGAGTGGGTCACCTGTGTCCTGCTTCTCTGTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0147 a0001c0001t0025g0147	1	360	0.0028	-97	c.92- others(114): Show c.92-17800_92-17704delACTGTGTCCTGCTTCTGTGGGCTGTTTC TTCTCTTGAGAGTGGGTCACCTGTGTCCTGCTTCTCTGTTGGCTGTTTCT TCTCTTGAGAGTGGGTCAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C2CD4C_chr19_400445_414147	404284	GGGGGGGA others(90): Show GGGGGGGACGGGGTCCTGCCCTGAGGGGGTGTGGGGGGGACGGGGTCCTG CCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	322	0.0031	-97	c.27 others(108): Show c.2715_*2811delTCAGACCCCTCAGGGCAGGACCCCGTCCCCCCCC CACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCCTCAGGGCAGG ACCCCGTCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1160		chr19	TogoVar
C2CD6_chr2_201482421_201624178	201563372	CCCCCCCA others(90): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	270	0.0037	-97	c.977 others(114): Show c.977+2260_977+2356delTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGG	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
CACNA1B_chr9_137872782_138129619	137976968	AGGGCAGT others(90): Show AGGGCAGTCTGAGAATTACCAACTTATGTAGGTAGGGAGGCCTTGGAGGC AGTGTGTTTCCCAGCTTACCATGACAGCTGAGCACAGAGGGCAGTGCT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0197 a0002c0008t0003g0197	1	248	0.0040	-97	c.165 others(116): Show c.1656+1043_1656+1139delTGCTGGGCAGTCTGAGAATTACCAAC TTATGTAGGTAGGGAGGCCTTGGAGGCAGTGTGTTTCCCAGCTTACCATG ACAGCTGAGCACAGAGGGCAG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	12/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1173798	GACCTGTG others(90): Show GACCTGTGCACACAGTGGGGCCTCACACCACATGGGAGTTGTGGACATTA ACCTGTGCACACAGTGGGACCTCACGTCACGTGGGGCTGTGGACATTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02886.hp1 others(2): Show HG02257.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0043 a0002c0002 a0002c0043	a0002c0002t0001 a0002c0002t0002 a0002c0043t0001 a0002c0002t0001 a0002c0002t0002 a0002c0043t0001	a0002c0002t0001g0324 a0002c0002t0002g0085 a0002c0002t0002g0086 others(2): Show a0002c0002t0001g0324 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0043t0001g0204	5	338	0.0148	-97	c.299 others(116): Show c.299+19854_299+19950delACATTTACCTGTGCACACAGTGGGGC CTCACACCACATGGGAGTTGTGGACATTAACCTGTGCACACAGTGGGACC TCACGTCACGTGGGGCTGTGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199056	AGTCGCTG others(90): Show AGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCTGCCCACCACGCA GTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01099.hp2 others(4): Show HG00642.hp1 HG01069.hp2 HG01099.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01978.hp2	a0001 a0002 a0019 others(2): Show a0001 a0002 a0019 a0021 a0040	a0001c0001 a0002c0002 a0019c0033 others(2): Show a0001c0001 a0002c0002 a0019c0033 a0021c0034 a0040c0100	a0001c0001t0001 a0002c0002t0001 a0019c0033t0005 others(2): Show a0001c0001t0001 a0002c0002t0001 a0019c0033t0005 a0021c0034t0003 a0040c0100t0007	a0001c0001t0001g0177 a0002c0002t0001g0244 a0019c0033t0005g0254 others(3): Show a0001c0001t0001g0177 a0002c0002t0001g0244 a0019c0033t0005g0254 a0019c0033t0005g0260 a0021c0034t0003g0002 a0040c0100t0007g0111	7	338	0.0207	-97	c.803 others(112): Show c.803+308_803+404delCACCATGGCTCTGCCCACCACGCAGTCGCT GCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTCGCTGC ACATATGCCCCACCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM2_chr3_84953989_86079429	85769041	CATATATA others(90): Show CATATATACATATATAGTATATATACACATATATACATATATAGTATATA TACACATATATACATATATGTATATATACACATATATACATATATAGT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0097 a0001c0001t0020g0097	1	146	0.0069	-97	c.89- others(114): Show c.89-32996_89-32900delTATATAGTATATATACACATATATACAT ATATAGTATATATACACATATATACATATATGTATATATACACATATATA CATATATAGTATATATACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85769068	CATATATA others(90): Show CATATATACATATATAGTATATATACACATATATACATATATGTATATAT ACACATATATACATATATAGTATATATACACATATATACATATATAGT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0098 a0001c0002t0016g0098	1	146	0.0069	-97	c.89- others(114): Show c.89-32969_89-32873delTATATAGTATATATACACATATATACAT ATATGTATATATACACATATATACATATATAGTATATATACACATATATA CATATATAGTATATATACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85769095	CATATATA others(90): Show CATATATACATATATGTATATATACACATATATACATATATAGTATATAT ACACATATATACATATATAGTATATATACACATATATACATATATAGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp2 NA18952.hp1 HG01069.hp1 HG01099.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0041 a0001c0001t0001 a0001c0001t0009 a0001c0001t0041	a0001c0001t0001g0084 a0001c0001t0009g0008 a0001c0001t0041g0056 a0001c0001t0001g0084 a0001c0001t0009g0008 a0001c0001t0041g0056	3	146	0.0206	-97	c.89- others(114): Show c.89-32942_89-32846delTATATGTATATATACACATATATACATA TATAGTATATATACACATATATACATATATAGTATATATACACATATATA CATATATAGTATATATACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar

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