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
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(495): Show TATATAAATATATATAAATATATAAATATATAAAAATATATAAATACATA AATATATAAATATATAAATATATATACATAAATATATAAATATATAAATA TATAAATATATAAATACATAATATATATAAATATAAAATATATATAATAT ATAAAATATATTAAAAATATAAAAATATATATAAAAAATATATAAATATA TAAAAATATATAAAAAATATATACACATATAAATATATATAAAAATATAT AAATATATATAAAAATATATAAATATATATTATATATAAATATATAATAT ATAAATATATATAAATATATAAATATATATAAATATATACAATATATAAA TATATATAAATATATACAATATATAAATATATATAAATATATACAATATA TAAATATATATAAATATATACAATATATAAATATATATAAATATATATAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	344	0.0029	502	c.617 others(519): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTATATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TATTTATATATTTATATATATTTATATATTATATATTTATATATAATATA TATTTATATATTTTTATATATATTTATATATTTTTATATATATTTATATG TGTATATATTTTTTATATATTTTTATATATTTATATATTTTTTATATATA TTTTTATATTTTTAATATATTTTATATATTATATATATTTTATATTTATA TATATTATGTATTTATATATTTATATATTTATATATTTATATATTTATGT ATATATATTTATATATTTATATATTTATGTATTTATATATTTTTATATAT TTATATATTTATATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GALR1_chr18_77244848_77282900	77248111	T T	TGTGGGTT others(495): Show TGTGGGTTTTTATTTTTTATTTTTTATTTATTTTTTTTTTAAATTTTTTT TTTATTATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATATATGTGCCATGCTGGTGCGCTGCACCCACCAACGTGTC ATCTATCATTAGGTATATCTCCCACTGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCTCTTCCTGTGCCCTTGTGAT CTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGACATGAACTCATCATTTCCAATTTCATCCATGTCCCTA CAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTG TATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGG TTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0329 a0001c0004t0018g0329	1	366	0.0027	502	c.-24 others(513): Show c.-2438_-2437insGTGGGTTTTTATTTTTTATTTTTTATTTATTTTT TTTTTAAATTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATATATGTGCCATGCTGGTGCGCTGC ACCCACCAACGTGTCATCTATCATTAGGTATATCTCCCACTGCTATCCCT CCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCTCTTC CTGTGCCCTTGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATAT GCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTT CCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTCCAATT TCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCA TAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCAT TGTTGGACATTTGGGTTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		1736		chr18	TogoVar
GLB1L3_chr11_134271379_134324564	134308212	C C	CACCACCA others(495): Show CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCA TCACCATCACCACCATCACCACCACCACCACCACCACCAAATACCACCAC CACCACCATCACCACCACCACCACTACCACCACCATCACCATCACCATCA CCACCACCACCACCATCACCATCACCATCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCATCACCATCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCAAATACCACCACCACCACC ATGTCCACCACCACTACCACCACCAAATACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCATCATCACCATCACCACC ATCACCACCACCACCACCACCACCACCAAATACCACCACCACCATGTCCA CCACCACTACCACCACCATCACCATCACCATCACCATCATCACCATCACC ACT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	422	0.0024	502	c.961 others(519): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CACCACCACCACCATCATCACCATCACCACCATCACCACCACCACCACCA CCACCAAATACCACCACCACCACCATCACCACCACCACCACTACCACCAC CATCACCATCACCATCACCACCACCACCACCATCACCATCACCATCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCATC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAA ATACCACCACCACCACCATGTCCACCACCACTACCACCACCAAATACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA TCATCACCATCACCACCATCACCACCACCACCACCACCACCACCAAATAC CACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCATCA CCATCATCACCATCACCACTACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(495): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTGGAGACGG AGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 NA19030.hp1 HG02258.hp1 HG02922.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0001c0001t0001 a0001c0002t0001 a0002c0005t0001	a0001c0001t0001g0222 a0001c0002t0001g0072 a0002c0005t0001g0389 a0001c0001t0001g0222 a0001c0002t0001g0072 a0002c0005t0001g0389	3	450	0.0067	502	c.146 others(519): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGCCT CACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(495): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCG CCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTC CCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCC CTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCT CCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCC TCCCCTCCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCCCCCTTCCCC CCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCTCCTTCCCCTTCCCCCCCCTCCTTCCCCC TTC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	290	0.0035	502	c.972 others(517): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTC CCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCTCCTTCCCCTTCCCCCCCC TCCTTCCCCCTTCCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(495): Show TTATATATAAATATATAAATATACATTTATATATAAATATATATAAATAT ACATTTATATATAAATATATATAAATATACATTTATATATAAATATATAT AAATATACATGTATATTTATTCATATATAAATATATATAAATATACATGT ATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCAT ATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATAT ATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACAT GTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTC ATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATAT ATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATAC ATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTAT TCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0067 a0001c0003t0067	a0001c0003t0067g0060 a0001c0003t0067g0060	1	208	0.0048	502	c.-97 others(519): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATATAAATATACATTTATATATAAATATATATAAATATACATTTA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAAATATACATGTATATTTATTCACATATAAA TATATATAAATATACATGTATATTTATTCACATATAAATATATATAAATA TACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRK4_chr4_2958571_3045760	2961216	A A	AATATAGT others(495): Show AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATAT AGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0049 a0004c0009t0001g0049	1	268	0.0037	502	c.-28 others(513): Show c.-2855_-2854insATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATAT	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2354		chr4	TogoVar
GSE1_chr16_85608322_85681200	85653208	C C	CTCTCCCC others(495): Show CTCTCCCCCCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCCCTCCCCCCCTCCTCCCCCCTCCCCCCCCCTCC CCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCC CTCCTCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCC CTCCCCCCTCCTCCCCCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCTCC TCCCCCCCACCTCCCCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	290	0.0035	502	c.427 others(519): Show c.427-1070_427-1069insTCTCCCCCCCTCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCTC CTCCCCCCTCCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCCTCCCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCTCCC CCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCCCCCTCCT CCCCCCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCCCCTCCTCCCCCCCACCTCCCCCTCCTCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCTCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCCCCCTCCTCCTCCCCCCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(495): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGGAACCAATACATACATGGAACATATATATGTGGAACCA ATACATACATGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATCTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	323	0.0031	502	c.-36 others(513): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGGAACCAATACATACATGGAACAT ATATATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAA CCAATACATATACGGAACATATATATCTGGAACCAATACATATACGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307514	T T	TATATATA others(495): Show TATATATATTTTATATTATATATATTATATATAATATATATATTTTATAT TATATATATTATATATAATATATATATTTTATATTATATATATTATATAT AATATATATATTTTATATTATATATATTATATATAATATATATATTTTAT ATTATATATATTATATATAATATATATATTTTATATTATATATATTATAT ATAATATATATATTTTATATTATATATATTATATATAATATATATATTTT ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAATATATATATTTTATATTATATATATTATATATAATATATATATT TTATATTATATATATTATATATAATATATATATTTTATATTATATATATT ATATATAATATATATTTTATATTATATATATTATATATAATATATATTTT ATATTATATATATTATATATAATATATATTTTATATTATATATATTATAT ATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	141	0.0071	502	c.697 others(521): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATATTTTATATTATATATATTATA TATAATATATATATTTTATATTATATATATTATATATAATATATATATTT TATATTATATATATTATATATAATATATATATTTTATATTATATATATTA TATATAATATATATATTTTATATTATATATATTATATATAATATATATTT TATATTATATATATTATATATAATATATATTTTATATTATATATATTATA TATAATATATATTTTATATTATATATATTATATATAATATATATTTTATA TTATATATATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(495): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAG GGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGGG GCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAG GGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0193 a0001c0003t0003g0193	1	204	0.0049	502	c.978 others(519): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGA GGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC3_chr12_61767_183455	163275	T T	TCCACAGA others(495): Show TCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAG AACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCC TCC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0001 a0007c0021t0001	a0007c0021t0001g0230 a0007c0021t0001g0230	1	282	0.0036	502	c.258 others(519): Show c.2584-217_2584-216insACAGAACCGGACCCCTCCCCTCTCCCTC CACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCA CAGAACCGGACCCCTCCCCTCCCC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(495): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATGAATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ATATATTCATATATATGTGTACACATATATATTCATATATATGTGTACAC ATATATATTCATATATATGTGTACACATATATATTCATATATATGTGTAC ACATATATATTCATATATATGTGTACACATATATATTCATATATATGTGT ATACATATATATTCATATATATGTGTATACATATATATTCATATATATGT GTATACATATATATTCATATATATGTGTATACATATATATTCATATATAT GTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	322	0.0031	502	c.283 others(521): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TGTACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATATATT CATATATATGTGTACACATATATATGAATATATATGTGTACACATATATA TGAATATATATGTGTACACATATATATGAATATATATGTGTACACATATA TATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(495): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ATATATTCATATATATGTGTACACATATATATTCATATATATGTGTACAC ATATATATTCATATATATGTGTACACATATATATTCATATATATGTGTAC ACATATATATTCATATATATGTGTATACATATATATTCATATATATGTGT ATACATATATATTCATATATATGTGTATACATATATATTCATATATATGT GTATACATATATATTCATATATATGTGTATACATATATATTCATATATAT GTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	322	0.0031	502	c.283 others(521): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TATACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATATATG AATATATATGTGTACACATATATATGAATATATATGTGTACACATATATA TGAATATATATGTGTACACATATATATGAATATATATGTGTACACATATA TATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(495): Show ATATATGTGTATACATATATATTCATATATATGTGTATACATATATATTC ATATATATGTGTATACATATATATTCATATATATGTGTATACATATATAT TCATATATATGTGTATACATATATATTCATATATATGTGTATACATATAT ATTCATATATATGTGTATACATATATATTCATATATATGTGTATACATAT ATATTCATATATATGTGTATACATATATATTCATATATATGTGTATACAT ATATATTCATATATATGTGTATACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTGTATACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTGTATACATATATATTCATATATATGTGT ATACATATATATTCATATATATGTGTATACATATATATTCATATATATGT GTATACATATATATTCATATATATGTGTATACATATATATTCATATATAT GTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	322	0.0031	502	c.283 others(521): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TATACACATATATATGAATATATATGTATACACATATATATGAATATATA TGTATACACATATATATGAATATATATGTATACACATATATATGAATATA TATGTATACACATATATATGAATATATATGTATACACATATATATGAATA TATATGTATACACATATATATGAATATATATGTATACACATATATATGAA TATATATGTATACACATATATATGAATATATATGTATACACATATATATG AATATATATGTATACACATATATATGAATATATATGTATACACATATATA TGAATATATATGTATACACATATATATGAATATATATGTATACACATATA TATGAATATATATGTATACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(495): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATATACACACAAGAGGATATATATA TGTACACACAAGAGGATATATATATGTACACACAAGAGGATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATA TATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGA TATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAG GAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	232	0.0043	502	c.-67 others(521): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATGTACACACAAGAGG ATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGG ATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATAT CCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATAT ATATCCAAGAGGATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(495): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATGTATATATTTATATATAAATATATATTTATATATT TATATATATTTATATATATATACATAAATATATATTTATATATATTTATA TATATACATAAATATATATTTATATATAAATATATATTTATATATTTATA TATATTTATGTATATTTATATACATAAATATATATTTATATATATTTATA TATATTTATATACATAAATATATATTTATATATATTTATATACATAAATA TATATTTATATATATTTATATACATAAATATATATTTATATATATTTATA TACATAAATATATATTTATATATATTTATATACATAAATATATATTTATA TATATTTATATACATAAATATATATTTATATATATTTATATACATAAATA TATATTTATATATATTTATATACATAAATATATATTTATATATATTTATA TAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	136	0.0074	502	c.639 others(519): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATTTATGTATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATATTTATGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATTTATGTATATAAATATATATAAATATATATAAATATATATTT ATGTATATAAATATACATAAATATATATAAATATATAAATATATATTTAT ATATAAATATATATTTATGTATATATATAAATATATATAAATATATATTT ATGTATATATATATAAATATATATAAATATATAAATATATATTTATATAT AAATATATACATAAATATATATAAAAATATATATTTATATATAAATATAT TTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KREMEN1_chr22_29068035_29151820	29120414	A A	AGGAAACA others(495): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGG AGGGAGAGGTGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGA GGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT AAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp1 HG02071.hp1 others(33): Show HG00438.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02523.hp1 HG02622.hp1 HG02735.hp1 HG02738.hp1 HG02922.hp1 HG03139.hp1 HG03209.hp2 HG03486.hp2 HG03540.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18944.hp2 NA18948.hp2 NA18959.hp1 NA18966.hp2 NA18968.hp1 NA18977.hp1 NA18981.hp1 NA18990.hp2 NA19002.hp2 NA19004.hp1 NA19011.hp2 NA19057.hp1 NA19074.hp2 NA19082.hp1 NA19085.hp1 NA19091.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0007c0011	a0001c0001t0006 a0001c0001t0055 a0001c0001t0069 others(6): Show a0001c0001t0006 a0001c0001t0055 a0001c0001t0069 a0002c0003t0003 a0002c0003t0004 a0002c0003t0009 a0002c0003t0013 a0003c0004t0019 a0007c0011t0007	a0001c0001t0006g0345 a0001c0001t0006g0347 a0001c0001t0006g0349 others(32): Show a0001c0001t0006g0345 a0001c0001t0006g0347 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 a0001c0001t0055g0129 a0001c0001t0069g0344 a0002c0003t0003g0001 a0002c0003t0003g0126 a0002c0003t0003g0173 a0002c0003t0003g0204 a0002c0003t0003g0208 a0002c0003t0003g0212 a0002c0003t0003g0213 a0002c0003t0003g0216 a0002c0003t0003g0218 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0223 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0231 a0002c0003t0003g0232 a0002c0003t0004g0207 a0002c0003t0004g0217 a0002c0003t0009g0106 a0002c0003t0013g0001 a0002c0003t0013g0209 a0002c0003t0013g0211 a0002c0003t0013g0214 a0002c0003t0013g0219 a0003c0004t0019g0348 a0007c0011t0007g0202 a0007c0011t0007g0215	36	368	0.0978	502	c.353 others(517): Show c.353-915_353-914insAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA TGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAAC AGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29120414	A A	AGGAAACA others(495): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGTTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGG AGGGAGAGGTGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGA GGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT AAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18964.hp2 NA18995.hp1 HG02080.hp1 NA18964.hp2 NA18995.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0013 a0002c0003t0073 a0002c0003t0003 a0002c0003t0013 a0002c0003t0073	a0002c0003t0003g0229 a0002c0003t0013g0210 a0002c0003t0073g0206 a0002c0003t0003g0229 a0002c0003t0013g0210 a0002c0003t0073g0206	3	368	0.0082	502	c.353 others(517): Show c.353-915_353-914insAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGTTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA TGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAAC AGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088932	G G	GGAGGCCA others(495): Show GGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGG GTCTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAG AGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAG AGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAA GGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAG AGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAG AGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	502	c.-47 others(513): Show c.-4714_-4713insACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCTCCTTGCACAGACCCTGCCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCTTGCACAGACCCTGCCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCTC	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4535		chr20	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(495): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATATAT AAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02615.hp2 HG01358.hp1 HG02615.hp2	a0002 a0016 a0002 a0016	a0002c0020 a0016c0038 a0002c0020 a0016c0038	a0002c0020t0001 a0016c0038t0001 a0002c0020t0001 a0016c0038t0001	a0002c0020t0001g0053 a0016c0038t0001g0120 a0002c0020t0001g0053 a0016c0038t0001g0120	2	152	0.0132	502	c.342 others(521): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATA TATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(495): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATGTA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATATAT AAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02896.hp2 HG02897.hp1 others(10): Show HG00642.hp2 HG02896.hp2 HG02897.hp1 HG03209.hp2 HG03540.hp2 NA18522.hp1 NA18947.hp1 NA18957.hp1 NA18964.hp2 NA18965.hp2 NA18971.hp2 NA18998.hp2 NA19086.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0009 a0012 a0017 a0018 a0058 a0071 a0092	a0001c0001 a0001c0003 a0002c0027 others(10): Show a0001c0001 a0001c0003 a0002c0027 a0002c0028 a0004c0005 a0004c0118 a0009c0071 a0012c0041 a0017c0026 a0018c0017 a0058c0119 a0071c0121 a0092c0096	a0001c0001t0001 a0001c0003t0001 a0002c0027t0001 others(10): Show a0001c0001t0001 a0001c0003t0001 a0002c0027t0001 a0002c0028t0001 a0004c0005t0001 a0004c0118t0001 a0009c0071t0001 a0012c0041t0004 a0017c0026t0001 a0018c0017t0001 a0058c0119t0001 a0071c0121t0002 a0092c0096t0001	a0001c0001t0001g0129 a0001c0003t0001g0056 a0002c0027t0001g0060 others(10): Show a0001c0001t0001g0129 a0001c0003t0001g0056 a0002c0027t0001g0060 a0002c0028t0001g0101 a0004c0005t0001g0033 a0004c0118t0001g0100 a0009c0071t0001g0001 a0012c0041t0004g0063 a0017c0026t0001g0055 a0018c0017t0001g0107 a0058c0119t0001g0010 a0071c0121t0002g0078 a0092c0096t0001g0004	13	152	0.0855	502	c.342 others(521): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT GTATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATA TATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(495): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATGTA TAACTATAATTTATAGAAATATAATTTATATAAATGTATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATATAT AAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 NA18981.hp1 HG00544.hp1 HG00558.hp2 NA18981.hp1	a0004 a0091 a0004 a0091	a0004c0005 a0091c0104 a0004c0005 a0091c0104	a0004c0005t0001 a0091c0104t0001 a0004c0005t0001 a0091c0104t0001	a0004c0005t0001g0034 a0004c0005t0001g0094 a0091c0104t0001g0016 a0004c0005t0001g0034 a0004c0005t0001g0094 a0091c0104t0001g0016	3	152	0.0197	502	c.342 others(521): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT GTATAACTATAATTTATAGAAATATAATTTATATAAATGTATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATA TATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(495): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATGTATAACTATAATTTATAGAAATATAATTTATATAAATGTA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATATAT AAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0067 a0067	a0067c0081 a0067c0081	a0067c0081t0001 a0067c0081t0001	a0067c0081t0001g0099 a0067c0081t0001g0099	1	152	0.0066	502	c.342 others(521): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATGTATAACTATAATTTATAGAAATATAATTTATATAAAT GTATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATA TATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(495): Show ATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATGTA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAT AAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	152	0.0066	502	c.342 others(521): Show c.3420-8498_3420-8497insAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT GTATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATA TATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(495): Show ATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATGTA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATATAT AAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	152	0.0066	502	c.342 others(521): Show c.3420-8498_3420-8497insAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT GTATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATA TATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(495): Show CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCATCACCACCACCACCACCA CCACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCATCCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACCAC CAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	362	0.0028	502	c.391 others(517): Show c.391+844_391+845insCCACCACCACCATCACCACCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCATCACCACCACCACCAC CACCACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCATCCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCA CCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7062002	T T	TTAAATAT others(495): Show TTAAATATATTATATAATATATAATTATATTATATATTATATAATATATA ATTATATTATATATTATATAATATATAATTATATTATATATTATAATACA TTTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAT AGTATTATAATATATAATATATTATATATAATTATATTATAACATATTAT ATATAATTATATTATAGATCATAATCTATAATATAATTATATATAATATG TTATAATATATAATTATATTCTATATATAATTATATATAATATAATTATA TTCTGTATATAATTATATATAATATAATTATATTCTGTATATAATTATAT ATAATTATATTCTATATATAATATAATTATATATAATTATATACAGAATA TAATTATATATAATACAATTATATTCTATATACAATATAAAATATAATTA TAATATATAATATAATTATAATACATAATATAATTATATATTATATACTT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	288	0.0035	502	c.-33 others(513): Show c.-3398_-3397insTATAAGTATATAATATATAATTATATTATGTATT ATAATTATATTATATATTATAATTATATTTTATATTGTATATAGAATATA ATTGTATTATATATAATTATATTCTGTATATAATTATATATAATTATATT ATATATAGAATATAATTATATATAATTATATACAGAATATAATTATATTA TATATAATTATATACAGAATATAATTATATTATATATAATTATATATAGA ATATAATTATATATTATAACATATTATATATAATTATATTATAGATTATG ATCTATAATATAATTATATATAATATGTTATAATATAATTATATATAATA TATTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCT ATAATATAATTATATTAAATGTATTATAATATATAATATAATTATATATT ATATAATATATAATATAATTATATATTATATAATATATAATATAATTATA TATTATATAATATATTTA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3327		chr19	TogoVar
MCMBP_chr10_119824440_119877843	119864863	T T	TTTGAGAG others(495): Show TTTGAGAGTTTTTAATCCATGGATTATTTAGAAGTGTTCTTCTTATATAT AAAGTTTACTATTTGGTTTATGACCCAGAATGTGGTTTATCTTGGTGAAT TTACAGGTGCACTTGAAAAGAATGTGTATTCTGCTGTCATTAGGTAAACA AATGTCAATTAGATCTACTTGGTTGACAGTGTTGTGTAGTTTTGTGTTGT TCAGTAGGTTTACAATTTTATTGATTTTTTTTTTAAAGAGCTTTGAGTTT CACTGATTTTTTCTTTTTTTTCTGTTTTCTATTTCATGGATTTTTGTTCT CTATTATTTCTTTCTTCTGTTTAATTTGGGTTTATTTTGCTCTTCATTTC TAGTTTCATAGGTGGAAGCTTAAATTATTCACTTGAGACCTTCTCTTCTA ATTAAGGCAGCTAATGCATCTAAGCACGTCTTTGGCTGTATCCCACAAAT TTTGGTATGTTGAGTTTTCATTTTGGTTTAGTTCACAATATTCAAAGCTT TCC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	400	0.0025	502	c.59- others(517): Show c.59-4980_59-4979insGGAAAGCTTTGAATATTGTGAACTAAACCA AAATGAAAACTCAACATACCAAAATTTGTGGGATACAGCCAAAGACGTGC TTAGATGCATTAGCTGCCTTAATTAGAAGAGAAGGTCTCAAGTGAATAAT TTAAGCTTCCACCTATGAAACTAGAAATGAAGAGCAAAATAAACCCAAAT TAAACAGAAGAAAGAAATAATAGAGAACAAAAATCCATGAAATAGAAAAC AGAAAAAAAAGAAAAAATCAGTGAAACTCAAAGCTCTTTAAAAAAAAAAT CAATAAAATTGTAAACCTACTGAACAACACAAAACTACACAACACTGTCA ACCAAGTAGATCTAATTGACATTTGTTTACCTAATGACAGCAGAATACAC ATTCTTTTCAAGTGCACCTGTAAATTCACCAAGATAAACCACATTCTGGG TCATAAACCAAATAGTAAACTTTATATATAAGAAGAACACTTCTAAATAA TCCATGGATTAAAAACTCTCAA	MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	1/15			chr10	TogoVar
MLPH_chr2_237482251_237560322	237543179	G G	GGGGACAG others(495): Show GGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGT GGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGCACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTG AGT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0072	1	286	0.0035	502	c.153 others(519): Show c.1539+523_1539+524insACAGTGGTGAGTTGGGGGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGT GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGT GGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTG AGTGGAGGGGACAGTGGTGAGTGGGGGACAGTGGCAAGTGGGCACAGTGG TGAGTGGGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(495): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGA GGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCAC GTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGG GTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGG GGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCA TGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCG TGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGG CGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTG TGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGG GGC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0302 a0001c0008t0001g0302	1	388	0.0026	502	c.159 others(519): Show c.1596+173_1596+174insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGA GGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTG GAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTG TGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGC CGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGG GGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGG AGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGC GTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGT GGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGC GCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(495): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATGTATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTC AATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATATAAA AAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0093 a0001c0002t0002g0094	2	326	0.0061	502	c.358 others(519): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA ATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATAT AAGTATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(495): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATGTAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTC AATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATATAAA AAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0007 a0006c0009t0007	a0006c0009t0007g0059 a0006c0009t0007g0059	1	326	0.0031	502	c.358 others(519): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT GTAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTAT GTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAA ATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATAT AAGTATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVP_chr16_29815462_29853021	29843538	A A	AAGGGAGG others(495): Show AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGA GGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGA AGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAA GGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAG GGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGT GAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGG AGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGA GGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGA GGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	230	0.0044	502	c.163 others(519): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGAAGGGAGGGAGG GAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAA GGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGG AGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGA AGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAA GGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAG GAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGG AAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGG AGGGGAGGGAGGGAGGAAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYT1L_chr2_1784113_2336275	2295581	G G	GACAGACA others(495): Show GACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGACAGA CAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGA GAGACAGACAGACAGAGAGAGACAGACAGACAGAGAGAGAGAGATAGAGA GACAGACAGACAGAGAGAGACAGACAGACAGAGAGAGAGAGATAGAGAGA CAGACAGACAGAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGACAGA CAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGACA GACAGACAGAGAGAGAGAGAGACAGACAGACAGAGAGAGACAGACAGACA GAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGACAGACA GACAGAGAGAGACAGACAGACAGAGAGAGAGAGATAGAGAGACAGACAGA CAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGATAGAGA GAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0003 a0001c0002t0004g0003	1	104	0.0096	502	c.-52 others(523): Show c.-520-11079_-520-11078insGTCTCTCTATCTCTCTCTCTCTGT CTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCT CTCTCTCTGTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCT GTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTGT CTGTCTGTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTGTCTGT CTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTGTCTGTCT GTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCT GTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGT CTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTGTCTGT CTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTGTCTGTCT GTCTCTCTCTCTCTCTCTGTCTGTCTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158667722	T T	TCCCTTAC others(495): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCC TTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCG CCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCC CTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0365 a0001c0001t0001g0366	2	378	0.0053	502	c.148 others(521): Show c.1480-2973_1480-2972insGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAA GGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGA GGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGG CGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGG CGGAGGGACCCAGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(495): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCC CGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGC CTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTC TGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGG GGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTG GCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTA GCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCA CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	502	c.26 others(513): Show c.2689_*2690insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCT GGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGT ATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGT GTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCC GTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NOP14_chr4_2932936_2968406	2961216	A A	AATATAGT others(495): Show AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATAT AGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0013 a0009c0012t0013	a0009c0012t0013g0060 a0009c0012t0013g0060	1	422	0.0024	502	c.195 others(519): Show c.195+1908_195+1909insATATAGTTACTATATATTAATATACTAA CTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTA ATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACT ATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATA TACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATA TTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATA GTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATA TTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTA ACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATT AATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTAC TATATATTAATATACTAACTATAT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NXN_chr17_794310_984776	841375	A A	ACACGGAG others(495): Show ACACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGAGCAT CTCACACCCGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGC GAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCGACCACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGC GCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGTGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGT CCTCCCGACCACGGTGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCA CACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGC AGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCT GAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	242	0.0041	502	c.361 others(521): Show c.361-15298_361-15297insGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGG ACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCC CGTGTGAGATGCACCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGC GCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCACCGTGGTCGG GAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTC GCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGA TGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGT CAGGGGGGACCTGCTCGCGGGTGTGAGATGCTCTGTGGTCAGGGGGGACC TGCTCGCCCGTGTGAGATGCTCCGTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841411	T T	TGACCACA others(495): Show TGACCACAGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGAG CATCTCACACGGGCGAGCGGGTCCCCCCTGACCACGGAGCATCTCACACG GGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAGCAGGTC CACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCA CACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCACAGGC AGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTG ACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCAT CTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGC GAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCA CCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0192 a0001c0001t0008g0192	1	242	0.0041	502	c.361 others(521): Show c.361-15334_361-15333insGGGTGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCT GCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCG GGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATG CTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAG GGGGGACCCGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGC TCGCCCGTGTGAGATGCGCTGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841526	C C	CGACCACA others(495): Show CGACCACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCC GCGAGCAGGTCCTCCCGACCACGGTGCATCTCACACGGGCGAGCAGGTCC CCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACG GTGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC ACCCGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCA GGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCTG ACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGTGCAT CTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGC GAGCAGGTCCTCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCC CCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0179 a0001c0003t0008g0179	1	242	0.0041	502	c.361 others(521): Show c.361-15449_361-15448insAGGGGGGACCTGCTCGCCCGTGTGAG ATGCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCACCGTGGTCGGGAGGACCT GCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCGGGTG TGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCGGGTGTGAGATGCGCC GTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCACCGTGGTCGGGAGGACCTGCTCGC GGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCACCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCA GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC TCGCCGGCATGAGATGCGCTGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841603	C C	CTGACCAC others(495): Show CTGACCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAG CATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGAGCATCTCACACG GGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTC CCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCA CGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCA CACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGA CCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATC TCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCACA GGCAGGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCCC CCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	242	0.0041	502	c.361 others(521): Show c.361-15526_361-15525insAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCTGTGGTCAGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGG TCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCA TGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGG ACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCC CGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATG CGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAG GGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCT CGCCGGCGTGAGATGCTCCGTGGTCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRL1_chr20_64075082_64105633	64088932	G G	GGAGGCCA others(495): Show GGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGG GTCTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAG AGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAG AGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAA GGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAG AGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAG AGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	66	0.0152	502	c.-18 others(521): Show c.-184-3033_-184-3032insAGGCCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGGGAGGGCAGGGTCTGTGCAAGGAGGCCAGGATCTGTGC AGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCA GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGC AGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCA GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGC AGGGAGGGCAGGGTCTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGC AGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGC AGAGTGGCCAGGATCTGTGCAGAGTG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OTOF_chr2_26452203_26483124	26476536	C C	CCCTTCCC others(495): Show CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTT CCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC CACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC CCTTCCCCCACCCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCC TTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCC ACG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	330	0.0030	502	c.436 others(517): Show c.436-220_436-219insCGTGGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGA AGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGG GGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGG GAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGA AGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAG GGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGG TGGGGGAAGGGGTGGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476493	T T	TCCCCAAC others(495): Show TCCCCAACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTC CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCC CACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACCCCTTCCCCCACCTCCCTTCCCCACCCCTTCCCCCACCTC CTTCCCACCCCTTCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCC ACCCCTTCCCCACCCCTTCCCCCCACCCCTTCCCCCACCTCCTTCCCCAC CCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCCCACCTCCTTCCCCACCCC TTC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0096 a0001c0015t0001g0096	1	284	0.0035	502	c.267 others(519): Show c.2677-177_2677-176insGAAGGGGTGGGGAAGGAGGTGGGGGGAA GGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGGGAAGGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGAAGGGGTGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG GAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGG GGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGA AGGAGGTGGGGGAAGGGGTTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476536	C C	CCCTTCCC others(495): Show CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTT CCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC CACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC CCTTCCCCCACCCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCC TTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCC ACG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0004 a0004	a0004c0076 a0004c0076	a0004c0076t0001 a0004c0076t0001	a0004c0076t0001g0124 a0004c0076t0001g0124	1	284	0.0035	502	c.267 others(519): Show c.2677-220_2677-219insCGTGGGGGAAGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGA AGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAA GGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGA AGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGA GGTGGGGGAAGGGGTGGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PERM1_chr1_970198_987093	976810	G G	GCAACCCC others(495): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCG CCA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	408	0.0025	502	c.215 others(519): Show c.2150-187_2150-186insTGGCGGGGGCAGGCGGTTCCCGGGGTTG GTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGT TGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTC GGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTT CCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGG AGTGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIAS4_chr19_4002736_4044386	4011875	T T	TGGGGTGT others(495): Show TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTG TGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0232 a0001c0005t0005g0232	1	334	0.0030	502	c.28- others(517): Show c.28-1032_28-1031insTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGAGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011943	T T	TGGGGTGT others(495): Show TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TTTGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT TTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0039 a0001c0005t0001g0039	1	334	0.0030	502	c.28- others(515): Show c.28-912_28-911insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT TTGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTT TGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(495): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCC CGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGC CTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTC TGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGG GGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTG GCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTA GCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCA CCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0236 a0002c0001t0001g0236	1	408	0.0025	502	c.-10 others(519): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGT GTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGT GTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGT GTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar

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