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
DRC7_chr16_57689806_57736805	57729847	CGAATGGA others(348): Show CGAATGGATGGATGGGTGGATGGATGGATGGATGAATGGATGGGTGGATG AGTGAGTGAGTAGGTGGGTGGATGGATGAGTGGGTGGGTGGATGGGTGGG TGGGTGGATGGATGGATGGATGGGCGAGTGGATAGATGGACGGTTGGATG GGCGAGTGGATAGATGGACAGTTGGATGGATGAGTGGAAGGACGGATGGA CGGATGGATGGATGGATGGATGATGGATGGATGGGTGAGTGGGTGGGTGG ATGAGTGAGTGAGCGGGTGGGTGGATGGATGAGTGGGTGGGTGGGTGGAT GGATGGATGGATGGATGAGTAGGTGGGTGGATGGAAGAGTGGGTGAGTGG ATGGAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0003 a0003c0025t0003	a0003c0025t0003g0079 a0003c0025t0003g0079	1	388	0.0026	-355	c.239 others(17): Show c.2392-961_2392-607del	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
ERBB4_chr2_211370717_212543802	212506089	ATATTTCA others(348): Show ATATTTCAAACTTTATTATTATATCTATTATGGTGATCTGTAATCAGTGA TCTTTGATGTTACTATTGTAATTGTTTTGAGGAGCCACAAATCATACCCA AACTTAATTAATAAATAGGTGTGTGTTCTGACTGCTTCACTAGGCCATTT CCCCATCTCTCTCCCTCTCCTTGGGTTTCCCAATTCCCTGAGATGAAATA ATTATAAATTAGGCCAATTAATAACCATACAATGGTCTTTAAGTGTTCAA GTAAAAAGAATTGCATGTCTCTCACTTGAAATCAAAAGCTAGAAATGATT AAGTTTAGCAAGGAAGGCATATCAAGAGAGCCAAGGCAGGCAAAAGCTAG GCCTTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp1 HG03239.hp2 others(1): Show HG01175.hp2 HG01192.hp1 HG03239.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0002c0003t0001	a0001c0001t0002g0016 a0001c0001t0005g0015 a0001c0001t0008g0013 others(1): Show a0001c0001t0002g0016 a0001c0001t0005g0015 a0001c0001t0008g0013 a0002c0003t0001g0014	4	56	0.0714	-355	c.82+ others(17): Show c.82+32005_82+32359del	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
GTPBP6_chrX_299759_323796	303474	ACGCCTGT others(348): Show ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGG TCAAGAGTTCGAGACCAGCCTGACCGACATGGTGAAAATACAAAAAATTA CTAAATATACAAAAATAATATATAAATTATAAATATATAAGAATACTAAA AATATAAAAAATTAGCCAGGCATGGTGGTGGGGGCCTGTAGTCCCAGCTA CTCAAGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGACTGCACCACTGCACTCCAGCCTGGATGACAGAGTGAC ACTCATTCCGTCTAAAAAAAAAAAAAAAAGTTAATTCAGGCCGGGCACAG TGGCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0004 a0023c0035t0004	a0023c0035t0004g0147 a0023c0035t0004g0147	1	155	0.0065	-355	c.12 others(11): Show c.1245_*1599del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		1284		chrX	TogoVar
MYT1_chr20_64159452_64247253	64235167	GTGGTATG others(348): Show GTGGTATGTGACCCGGGGCTGGCCGTGGTATGTGACCCCGGGATGGTCAT GGTGTGTGACCCGGGGCTGGCCGTGGTATGTGACCCCGGGATGGTCATGG TGTGTGACCCGGGGCTGGCCATGGTGGGTGACCCCGAGCTGGCTGTGGTG GGTGACCCTGGGCTGGCCGTGGTGGGTGACCCTGGGATGGCCGTTGTGGG TGACACTGGGCTGGTGGTGGTGGGTGACCCTTGGCTGGCCATGGTGGGTG ATGCTGGGATGGTCATGGTGGGTGACCCTGGGATGGCCGCGGTGGGTGAC CCTGGAATGGTCATGATGGGTGACCCTGGGCTGGCTGAGTGACCCTGGGC TGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03098.hp1 HG03540.hp2 others(1): Show HG01346.hp2 HG03098.hp1 HG03540.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0155 a0001c0002t0002g0146 a0001c0002t0002g0178 others(1): Show a0001c0001t0002g0155 a0001c0002t0002g0146 a0001c0002t0002g0178 a0001c0002t0002g0184	4	223	0.0179	-355	c.289 others(18): Show c.2898-1316_2898-962del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NARS2_chr11_78430968_78579864	78459168	ACCTCCCA others(348): Show ACCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACGGCGCCGGTCAATC TGATGATCTGATGGTGGTTTTTTTTGTCGTTGTTTTTTTTTTGTTTTGTT TTGTTTGTTTTTTTTAAATTGAGACAGAGTTTTGCTCTTGTTGCCCAGGC TGGAGTACAATGATGCAATCTCGGCTCACTGCAACCTCTGCCTCTCGGGT TCAAGCGATTCTCCTGCCTAAGCCTCCCAAGTAGCTGGGATTACAGGTGT GTACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCT CCATGTTGGTCAGGCTGGTCTTGAATCCCCTGCCTCAGGTGATCCACCCG CCTCGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02572.hp1 others(3): Show HG01884.hp1 HG02258.hp2 HG02572.hp1 HG03041.hp2 HG03516.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0007 a0002c0002t0003 a0001c0004t0007 a0002c0002t0003	a0001c0004t0007g0152 a0001c0004t0007g0154 a0002c0002t0003g0238 others(3): Show a0001c0004t0007g0152 a0001c0004t0007g0154 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0242	6	294	0.0204	-355	c.116 others(19): Show c.1164+6353_1164+6707del	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	11/13			chr11	TogoVar
NLRP8_chr19_55942832_55993629	55945563	TCTTTCTT others(348): Show TCTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTT GCTCTATCACCCTGGCTGGAGTGCAGTGGCATGATATCCACTCATTGCAA CCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGATTACAGGCACCCACCACCACGCCCAGCTACTTTTTGTGTTTTTA ATAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGGC CTGAAGTGATCCACCTGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCACCCAGCCAGTCCTGCAAATTTCTTAAAGCTGCAGCTCA CTGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0014 a0002c0006t0014	a0002c0006t0014g0173 a0002c0006t0014g0173	1	350	0.0029	-355	c.-23 others(11): Show c.-2339_-1985del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		2268		chr19	TogoVar
OTUD7A_chr15_31470398_31875673	31511095	TATGTATA others(348): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp2 HG02145.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0051 a0001c0004t0027 a0001c0004t0051	a0001c0004t0027g0025 a0001c0004t0051g0004 a0001c0004t0027g0025 a0001c0004t0051g0004	2	244	0.0082	-355	c.894 others(17): Show c.894-7632_894-7278del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511098	GTATATCT others(348): Show GTATATCTATATGTAACATACATATGTATATCTATATGTAACATACATAT GTATATCTATATGTAACATACATATGTATATCTATATGTAACACACATAT GTATATCTATATGTAACACACATACATATGTATATCTATATGTAACACAC ATACATATGTATATCTATATGTAACACACATACATATGTATATCTATATG TAACACACATATATATGTATATCTATATGTAACACACATATATATGTATA TCTATATGTAACACACATATATATGTATATCTATATGTAACACATATATA TGTATATCTATATGTAACACACACATATATGTATATCTATATGTAACACA CACATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0088 a0001c0006t0088	a0001c0006t0088g0221 a0001c0006t0088g0221	1	244	0.0041	-355	c.894 others(17): Show c.894-7635_894-7281del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PLCXD1_chrX_276381_308356	303474	ACGCCTGT others(348): Show ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGG TCAAGAGTTCGAGACCAGCCTGACCGACATGGTGAAAATACAAAAAATTA CTAAATATACAAAAATAATATATAAATTATAAATATATAAGAATACTAAA AATATAAAAAATTAGCCAGGCATGGTGGTGGGGGCCTGTAGTCCCAGCTA CTCAAGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGACTGCACCACTGCACTCCAGCCTGGATGACAGAGTGAC ACTCATTCCGTCTAAAAAAAAAAAAAAAAGTTAATTCAGGCCGGGCACAG TGGCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03195.hp1 HG02622.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0100 a0001c0001t0018g0099 a0001c0001t0018g0100	2	176	0.0114	-355	c.41 others(11): Show c.4140_*4494del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		119		chrX	TogoVar
SASH1_chr6_148337838_148557044	148390693	CAGGAGAC others(348): Show CAGGAGACTGGCGTGAACCTGGGTGGCAGAGCTTGCAGTGAGCCAAGATC ACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAA AAAAAAAATAGATTTTTATTTTTATTTTTTTACTTAAGGGAAAAGTATAT TTTTACTGTTCACCAGTGTATACTACATTTTTTATTGACTCTAAGCCCAA AGGGTGTCTAGGCTAATTTTTTTTCCAGCTTTCGTTCCTTTTTTCTTTTC TTCTCTTTTTCTTTTCTTCTTTTGGAAAGCAACATAAAATTTTAAGGAAC AATAAATCACCTGTAGTCCCTCACCTAGCAATAATCACGTTGGTGTTTTA GCGGGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0250 a0002c0002t0007g0250	1	322	0.0031	-355	c.285 others(15): Show c.285+433_285+787del	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1222592	CCTGCTGC others(348): Show CCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATG GAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAG AGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTG GAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCT CCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGG TGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGG ATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTG CCTGCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18984.hp1 HG02886.hp2 NA18984.hp1	a0006 a0011 a0006 a0011	a0006c0010 a0011c0018 a0006c0010 a0011c0018	a0006c0010t0001 a0011c0018t0001 a0006c0010t0001 a0011c0018t0001	a0006c0010t0001g0162 a0011c0018t0001g0046 a0006c0010t0001g0162 a0011c0018t0001g0046	2	190	0.0105	-355	c.719 others(19): Show c.719+13363_719+13717del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SORCS2_chr4_7187538_7747827	7363429	TATCATCA others(348): Show TATCATCACCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTC ACCATAACCATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGT ATCACCATTACCATCACCGTCACCATAACCATGCCTCACCATCATCATCA CCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAAC CATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGTATCACCAT TACCATCACCGTCACCATAACCATGCCTCACCATCATCATCACCATCACC ACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAACCATGCCTC ACCATC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0151 a0001c0009t0001g0151	1	168	0.0060	-355	c.481 others(19): Show c.481-32551_481-32197del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SSB_chr2_169793871_169817064	169795927	GTCTCCTG others(348): Show GTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACC ATGCCTGGCTAATTTTCGTATTTTTAGTAGAGACGGGGTTTCACCATGTT GGCCAGGCTGGTCTCAAACTCTTGACCTTGTGATCTACTCTCCTCAGCCT CCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCCGCCCGAATAT GCTTGAACATGTTTTCTTGTGTACAGATGTGAACATTGCTCTAGAGTATA ATCTTTTTTTTTTTAATGAGACAGAGTCTTACTCTTGTCGCCCAGGCTGG AGTGCAATGGCGCGATCTTGACTCTCTGCAACCTCCACCTCCCAGGTTCA AGCAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	426	0.0024	-355	c.-30 others(11): Show c.-3058_-2704del	SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding		2943		chr2	TogoVar
TMEM63C_chr14_77176798_77264495	77220919	CCTCCTCT others(348): Show CCTCCTCTCCCACCCACGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACT CTCGCCTCCCCTCCCACCCACGCCCCCTCCCACTCTCGCCTCCCCTCCCA CTCTCGCCTCCCCTCCCACCCACGCCCCCTCACACTCACGCCTCCCCTCC CACTCTCGCCTCCCCTCCCACTCATGCCCTGCCTCCCACTCACGCCTCCT CTCTCACTTACACCCCACCTCCCACTCACGCCTCCCCTCCCACTCATGCC CCACCTCCCACTCACACCTCCTCTCTCATTCACACCCCGCCTCCCACTCA CGCCTCCCCTCCCACTCACGCCCCACCTCCCACTCACGCCCCGCCTCCCA CTCACG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	322	0.0031	-355	c.312 others(16): Show c.312+834_312+1188del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TNK2_chr3_195858364_195913551	195874710	ACTCTCCC others(348): Show ACTCTCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCC CCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGG GATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGC GCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCA CGCACGCTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACA CTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGA GGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCGGAGGCAC AGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01099.hp2 HG01433.hp1 others(18): Show HG00621.hp2 HG01099.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02109.hp1 HG02148.hp1 HG02273.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02976.hp2 HG03041.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0018 a0019	a0001c0001 a0001c0002 a0001c0036 others(5): Show a0001c0001 a0001c0002 a0001c0036 a0002c0010 a0003c0005 a0006c0025 a0018c0039 a0019c0038	a0001c0001t0001 a0001c0002t0001 a0001c0036t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0036t0001 a0002c0010t0001 a0003c0005t0001 a0006c0025t0001 a0018c0039t0001 a0019c0038t0001	a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0105 others(18): Show a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0002t0001g0036 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0036t0001g0023 a0002c0010t0001g0028 a0002c0010t0001g0030 a0003c0005t0001g0037 a0003c0005t0001g0039 a0003c0005t0001g0041 a0003c0005t0001g0046 a0003c0005t0001g0059 a0006c0025t0001g0096 a0018c0039t0001g0038 a0019c0038t0001g0032	21	372	0.0565	-355	c.125 others(19): Show c.1257-2595_1257-2241del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
ZNF516_chr18_76352682_76500242	76394145	AGGTGGTC others(348): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18953.hp1 HG00558.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0184 a0001c0002t0016 a0001c0001t0184 a0001c0002t0016	a0001c0001t0184g0262 a0001c0002t0016g0172 a0001c0001t0184g0262 a0001c0002t0016g0172	2	346	0.0058	-355	c.181 others(21): Show c.1811-14197_1811-13843del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABR_chr17_998519_1184981	1131494	TTTGCACA others(347): Show TTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCTCTTTGC ACACCAAATGCAGTGCCTGCCACGCACACAGCTCCCCCCTTTGCACACCA AATGCAGTGCCTGACACGCACACAGCTCCCCCCTTTGCACACCAAATGCA GTGCCTGACACGCACACAGCTCCCCCTTTGCACACCAAATGCAGTGCCTG CCACGCGCACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGC GCAGAGCTCCCCCCTCTTTGCACACCAAATGCAGTGCCTGCCACGCGCAC AGCTCCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTC CCCCC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp2 HG02132.hp1 others(10): Show HG02015.hp2 HG02040.hp2 HG02132.hp1 HG02523.hp1 HG02698.hp1 HG03834.hp2 HG04199.hp2 NA18747.hp2 NA18954.hp2 NA18962.hp1 NA18980.hp1 NA19063.hp1 NA19074.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0001c0001t0078 a0001c0001t0090 a0005c0008t0020	a0001c0001t0001g0187 a0001c0001t0004g0257 a0001c0001t0004g0293 others(10): Show a0001c0001t0001g0187 a0001c0001t0004g0257 a0001c0001t0004g0293 a0001c0001t0006g0233 a0001c0001t0007g0288 a0001c0001t0009g0046 a0001c0001t0013g0043 a0001c0001t0026g0027 a0001c0001t0030g0107 a0001c0001t0033g0327 a0001c0001t0078g0289 a0001c0001t0090g0301 a0005c0008t0020g0132	13	337	0.0386	-354	c.62- others(15): Show c.62-6481_62-6128del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144531623	GGGCTAGA others(347): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp2 HG02145.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0218 a0001c0002t0001g0117 a0001c0002t0001g0218	2	246	0.0081	-354	c.298 others(17): Show c.2980+328_2980+681del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874642	CAGTGCAG others(347): Show CAGTGCAGACACACACCAGGGTGTGTAGGGGGTAGAGGTTCTAAGACAGT CTGGAGGGAGAGTGCAGACACACACCGGGGTGTGTAAGCAGTGGAGGTTC TAAGACAGGCTGGAGGAACAGTGGAGACACACACCAGGGCGTGTAGGGGG TAGAGGTTCTAAGACAGGCTGGAGGAACAGTGGAGACACACACCACGGCG TGTAGGGGGTAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACAC CCGGGGCCGTGTAGGGGGTACAGGTTCTAAGACAGTCTGGTGGGAGAGTG CAGACACACACGGGGCTGTGTCGGGGATAGAGGTTCTAAGACAGTCTGGT GGGAG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0133 a0001c0133	a0001c0133t0001 a0001c0133t0001	a0001c0133t0001g0060 a0001c0133t0001g0060	1	363	0.0028	-354	c.680 others(17): Show c.680-1908_680-1555del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874734	GGAGGTTC others(347): Show GGAGGTTCTAAGACAGGCTGGAGGAACAGTGGAGACACACACCAGGGCGT GTAGGGGGTAGAGGTTCTAAGACAGGCTGGAGGAACAGTGGAGACACACA CCACGGCGTGTAGGGGGTAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGC AGACACACCCGGGGCCGTGTAGGGGGTACAGGTTCTAAGACAGTCTGGTG GGAGAGTGCAGACACACACGGGGCTGTGTCGGGGATAGAGGTTCTAAGAC AGTCTGGTGGGAGAGTGCAGACACACACCAGGGCGTGTAGGGGGTAGAGG TTCTAAGACAGGCTGGAGGAACAGTGGAGACACACACCACGGCGTGTAGG GGGTA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03098.hp2 others(1): Show HG02895.hp1 HG02897.hp1 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0046 a0001c0047 a0001c0046 a0001c0047	a0001c0046t0001 a0001c0047t0009 a0001c0046t0001 a0001c0047t0009	a0001c0046t0001g0332 a0001c0046t0001g0333 a0001c0047t0009g0331 others(1): Show a0001c0046t0001g0332 a0001c0046t0001g0333 a0001c0047t0009g0331 a0001c0047t0009g0334	4	363	0.0110	-354	c.680 others(17): Show c.680-1821_680-1468del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874898	CCGTGTAG others(347): Show CCGTGTAGGGGGTACAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACA CACACGGGGCTGTGTCGGGGATAGAGGTTCTAAGACAGTCTGGTGGGAGA GTGCAGACACACACCAGGGCGTGTAGGGGGTAGAGGTTCTAAGACAGGCT GGAGGAACAGTGGAGACACACACCACGGCGTGTAGGGGGTAGAGGTTCTA AGACAGTCTGGTGGGAGAGTGCAGACACACCCGGGGCCGTGTAGGGGGTA CAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACACGGGGCTGTG TCGGGGATAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACAC CAGGG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	363	0.0028	-354	c.680 others(17): Show c.680-1660_680-1307del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(347): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG02572.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0265 a0001c0001t0004g0266	2	286	0.0070	-354	c.127 others(17): Show c.1277+516_1277+869del	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531623	GGGCTAGA others(347): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03516.hp2 HG02145.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	398	0.0050	-354	c.-30 others(11): Show c.-3061_-2708del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2513		chr8	TogoVar
CCDC73_chr11_32597721_32799662	32755927	CTATATAT others(347): Show CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTATATATATATCTCCATATATATATCTATATATATATCTCCAT ATATATATCTATATATATATCTCCATATATATATCTATATATATATCTCC ATATATATATCTATATATATATCTCCATATATATATCTATATATATATCT CCATATATATATCTATATATATATCTCCATATATATATCTATATATATAT CTCCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03540.hp2 NA19030.hp1 others(1): Show HG02622.hp1 HG03540.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 others(1): Show a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0002g0219	4	312	0.0128	-354	c.135 others(17): Show c.135+3828_135+4181del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64346675	CGTGATCC others(347): Show CGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAG CCACCGCGCCCGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATC ATGTTGGCCTGGCTAGTTTCTTTCTTTTCTTTTCTTTTCTTTTTTTGAGA CAGAGTCTCCCTCTGTCACCAGGCTGGAGGCGTGATCTCGGCTCACTGCA ACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCTCGTGTA GCTGGGACTACAGGTGCATGCCACCATGCCCAGCTAATTTTTTGAATTTT TAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTG ACCTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0033 a0033	a0033c0033 a0033c0033	a0033c0033t0002 a0033c0033t0002	a0033c0033t0002g0132 a0033c0033t0002g0132	1	400	0.0025	-354	c.261 others(19): Show c.2616+1525_2616+1878del	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
CYP7B1_chr8_64585851_64803737	64685941	GCCCGGCC others(347): Show GCCCGGCCAGCCGCCCCTTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCG GGAGGGAGATGGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG01884.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0019 a0001c0001t0013 a0001c0001t0019	a0001c0001t0013g0022 a0001c0001t0019g0124 a0001c0001t0013g0022 a0001c0001t0019g0124	2	258	0.0078	-354	c.123 others(19): Show c.123-61756_123-61403del	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
DHRSX_chrX_2214506_2505976	2276895	GAGAGAAA others(347): Show GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAGAGAGAGAAAGA GAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAG AGGAGGAGAGGGAGGAAATAGGGGGAAAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGA GGAGGAAATAGGGGAAAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGG GGGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02572.hp1 HG01167.hp1 HG02572.hp1	a0004 a0011 a0004 a0011	a0004c0014 a0011c0007 a0004c0014 a0011c0007	a0004c0014t0005 a0011c0007t0001 a0004c0014t0005 a0011c0007t0001	a0004c0014t0005g0007 a0011c0007t0001g0028 a0004c0014t0005g0007 a0011c0007t0001g0028	2	50	0.0400	-354	c.389 others(18): Show c.389-10302_389-9949del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DPH7_chr9_137549444_137583925	137565308	ACTGTCTG others(347): Show ACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	340	0.0029	-354	c.641 others(15): Show c.641-508_641-155del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565333	GTGACTGT others(347): Show GTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGC TCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCT GTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA CTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGA GGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCC CTGGA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	340	0.0029	-354	c.641 others(15): Show c.641-533_641-180del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565690	ACTCTGTC others(347): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	340	0.0029	-354	c.641 others(15): Show c.641-890_641-537del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERICH1_chr8_659200_736224	675679	GTGAGGAC others(347): Show GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGC CCCTC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00621.hp1 others(5): Show HG00423.hp2 HG00544.hp1 HG00621.hp1 HG02015.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0137 a0001c0001t0001g0225 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0137 a0001c0001t0001g0225 a0001c0001t0002g0354 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0361	8	378	0.0212	-354	c.305 others(17): Show c.305-1986_305-1633del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ESYT2_chr7_158725997_158834509	158729215	GGGAAGAG others(347): Show GGGAAGAGCAAGCGTGGAGGTGGGGGGGGAGGAGCAAATGTGGAGGTGCT GGGGGGAGGAGCAGGTGTGGAGATAGTGGGGGAAGAGCAAGCGTGGAGGT GTTGGGAGAAGCAAGTGTGGATGTGCAAGCGTGGAGGTGGGGGGCTTGGC GCAAGCGTGGAGGTGCTGGGGGGAGGAGCAAGGTGGAGGTTGGGACTGGA GCAAATGTGGAGGTGCTGGGGGGAGGAGCAGGTGTGGAGATAGTGGGGGA GGAGCAAGCGTGGAGGTGCTGGGGGGAGGAGCAGGTGTGGAGATAGTGGG GGAGGAGCAAGCGTGGAGGCGGGAGGGTTGGAGCAGGTGTGGAGGTGCTG TGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18984.hp2 NA18986.hp2 others(2): Show HG02155.hp2 NA18984.hp2 NA18986.hp2 NA18991.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0035 a0002c0002t0002 a0002c0002t0035	a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0260 others(2): Show a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0260 a0002c0002t0002g0308 a0002c0002t0035g0313	5	370	0.0135	-354	c.46 others(11): Show c.4638_*4991del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1781		chr7	TogoVar
GOLPH3_chr5_32119716_32179319	32142563	ACTCTGCC others(347): Show ACTCTGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCAAGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCC CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGTCCGGCCAGCTGCCCCGT CCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCGCCTACTGGGAAGTGAGG AGCCC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03209.hp2 HG03579.hp2 HG03195.hp2 HG03209.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196	3	380	0.0079	-354	c.357 others(16): Show c.357+832_357+1185del	GOLPH3	ENSG00000113384.14	transcript	ENST00000265070.7	protein_coding	2/3			chr5	TogoVar
KALRN_chr3_124028369_124731325	124366760	TTCACTTC others(347): Show TTCACTTCCCAGTAAGGGCCGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGTGGCTGGCTGGGCGGGGGTCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCA GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGG GCTGACCGCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCTGAGGG GCTCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0079 a0001c0019t0001g0079	1	116	0.0086	-354	c.177 others(21): Show c.1771-18071_1771-17718del	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	10/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KMO_chr1_241527378_241600642	241528390	GGAAAATA others(347): Show GGAAAATATATACATTAATTTCAGAATATATATATATATAATATATATAT ATTCTGAAATACTTGAATATATATATATTTCAAGTACACACAAAGCATTT ACACAAATTTACCACTTTATGGCCATACAATGAGTCTTAACCCGTTTCAC ATGTTTGAAAATCTATAGCACATATTAGCTGGCCTCACTGGAATTTTGCT AAAAACCAATAACAATAAGAAAACTAGGATGTGCCATGCATTTGGAACTT AAGAAATAAACCTGTATTCCACCCTGTACTGGAGGTACTAGCCAGCATGG AAAGAATCATTCAATCAGTCAGTAGCAGGGGGAGAGAGAGAGAGAGAGAG AGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02080.hp1 HG03490.hp1 others(11): Show HG00609.hp1 HG02080.hp1 HG03490.hp1 HG03942.hp2 NA18947.hp1 NA18951.hp1 NA18957.hp1 NA18967.hp1 NA18969.hp1 NA18988.hp2 NA19000.hp2 NA19002.hp1 NA19056.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0002c0014 a0001c0004 a0001c0005 a0002c0014	a0001c0004t0005 a0001c0004t0007 a0001c0004t0010 others(7): Show a0001c0004t0005 a0001c0004t0007 a0001c0004t0010 a0001c0004t0012 a0001c0004t0014 a0001c0004t0026 a0001c0005t0011 a0001c0005t0013 a0001c0005t0040 a0002c0014t0023	a0001c0004t0005g0360 a0001c0004t0005g0370 a0001c0004t0005g0374 others(11): Show a0001c0004t0005g0360 a0001c0004t0005g0370 a0001c0004t0005g0374 a0001c0004t0007g0369 a0001c0004t0010g0372 a0001c0004t0012g0365 a0001c0004t0014g0371 a0001c0004t0026g0361 a0001c0005t0011g0367 a0001c0005t0011g0368 a0001c0005t0011g0373 a0001c0005t0013g0364 a0001c0005t0040g0362 a0002c0014t0023g0366	14	422	0.0332	-354	c.-40 others(11): Show c.-4054_-3701del	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding		3987		chr1	TogoVar
LRRC24_chr8_144517388_144532033	144531623	GGGCTAGA others(347): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03516.hp1 HG02145.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	398	0.0050	-354	c.-50 others(11): Show c.-5077_-4724del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4591		chr8	TogoVar
MAP3K7CL_chr21_29125644_29180887	29179903	ATGTTTTT others(347): Show ATGTTTTTTGCTAGAATAGCATGTTTTTTAAGAGTTTTCTGGCTGGGTAC AGTGGCTCACACCTGTAATCCCAGCACTTCATGAGGCCAAGGTGGGCGGA TCACCTGAGGTCAGGAGTTCGAGAACAGCCTGGCCAATGTGGTGAAACCT CATCTCTACTAAAAAAAAAAAAAAAAAAAAATGTAGCAGGGCATGGTGGC GTGCCTGTAATCCCAGCTACTTGGGAGACTGAGATGGGAGAATCACTTGA ACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCA GCCTGGGTGCGACAGAGTGAGACTCAGTCTCAAAAAAAAAAAAGAGTTTT CTAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(181): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0002c0002t0002	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0008 others(128): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0260 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0044 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0003g0161 a0001c0001t0003g0229 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0309 a0001c0001t0005g0073 a0001c0001t0006g0041 a0001c0001t0006g0075 a0001c0001t0006g0077 a0001c0001t0006g0115 a0001c0001t0006g0126 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0008g0002 a0001c0001t0010g0074 a0001c0001t0015g0017 a0002c0002t0002g0287	184	406	0.4532	-354	c.50 others(11): Show c.5012_*5365del	MAP3K7CL	ENSG00000156265.17	transcript	ENST00000399928.6	protein_coding		4017		chr21	TogoVar
MYT1L_chr2_1784113_2336275	1797870	CCCATCCG others(347): Show CCCATCCGGCACAGGCGCGGCGGTCTCCCCCTTCTCCGGCACAGGCGCGG CGGTCTCCCCCTTCTCCGGCACAGGCGCGGCGGTCTCCCCCTTCTCCGGC ACAGGCGCGGCGGTCTCCCCCCATCCGGCACAGGCGCGGCGGTCTCCCCC CATCCGGCACAGGCGCGGCGGTCTCCCCCTTCTCCGGCACAGGCGCGGCG GTCTCCCTCCATCCGGCACAGGCGCGGCGGTCTCCCTCTTCTCCGGCACA GGCGCGGCGGTCTCCCTCCATCCGGCACAGGCGCGGCGGTCTCCCTCCAT CCGGCACAGGCGCGGCGGTCTCCCTCTTCTCCGGCACAGGCGCGGCGGTC TCCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp2 HG02922.hp1 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0074 a0001c0005t0011g0095 a0001c0005t0011g0074 a0001c0005t0011g0095	2	104	0.0192	-354	c.327 others(19): Show c.3276+3472_3276+3825del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	23/24			chr2	TogoVar
NEU4_chr2_241804193_241822413	241807253	ACCTTCCC others(347): Show ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGG AAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG03486.hp1 HG02129.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0119 a0001c0002t0001g0002 a0001c0002t0001g0119	2	319	0.0063	-354	c.-20 others(11): Show c.-2024_-1671del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1939		chr2	TogoVar
NTM_chr11_131365615_132341822	131519632	TTAGTTAT others(347): Show TTAGTTATGACCAGCCCAACTCTTCTTTACTTTCAGGTCTTCATAGGAGG CTGCATCTTTAGTTTTATTTCTGGGTTAGAACCCGAGAGGTGAACCTGCT TGTTAGGGAGCTGTGGAGTTAGTTATGACCAGCCCAACTCTTCTTTACTT TCAGGTCTTCATAGGAGGCTGCATCTTTAGTTTTATTTCTGGGTTAGCAC CCGAGAGGTGAACCTGCTTGTTAGGGAGCTGTGGAGTTAGTTATGACCAG CCCAACTCTTCTTTACTTTCAGGTCTTCATAGGAGGCTGCATCTTTAGTT TTATTTCTTGGTTAGCACCTAAGAGGTGAACCTGCTTGTTAGGGAGCTGT GGAGG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	86	0.0116	-354	c.82+ others(19): Show c.82+148799_82+149152del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NXN_chr17_794310_984776	893962	CAACCCCC others(347): Show CAACCCCCGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGA AGCATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAG CCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAACTC CCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCA TCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCC AGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGC CCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCA TCTCA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	242	0.0041	-354	c.361 others(19): Show c.361-68238_361-67885del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6560973	CCCTCTTC others(347): Show CCCTCTTCTTCCTCCTTCTCTTCATTCTCCCCTCCTCCTCCTCTTCCTCC TCCTTCTCCCTTCCTCTTCCTCCTTCTCCTCTTCATTCTCCCCTCCTCCT CCTCTTCCTCCTCCTTCTCCCTTCCTCTTCCTCCTTCTCCTTCTCCCCCC TCCTTCCCTCCTCTTCCTCCTTCTCCTCCTCCTCCCCCCTTCCTCCTCTT CCTCCTCCCCTCCCCCTCCTCTTCCTCCTCCCCTCCCCCTCCTCTTCCTC CTCCTCTCCCTTCCTCTTCCCCTTCCTCCTTCTCCTCTTCCTTCTCCCCT CCTCCTCCTCTTCCTCCTCCTTCTCCCTTCTTCTGCCTCTTCCTCCTTCT CTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0136 a0001c0001t0083g0136	1	218	0.0046	-354	c.-49 others(11): Show c.-4921_-4568del	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4419		chr17	TogoVar
RELL1_chr4_37605634_37691376	37669121	GCCCCTAC others(347): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCTGCCTGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCC GGGAGGTGAGGGGAGCCTCTGCCCGGCCGCCTCTACTGGGAAGTGAGGAG CCCCTCTGCCTGGCCAGCCGCTCCCTCCGGGAGGGAGGTGGGGGGGTCAG TCCCCGGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCACCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0173 a0001c0001t0026g0173	1	324	0.0031	-354	c.88+ others(17): Show c.88+16725_88+17078del	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
SCUBE1_chr22_43192280_43348372	43280996	TGTCACCT others(347): Show TGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGT CACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCA CCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCT CCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCC TTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTG GCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCC ATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCA GTCAC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	280	0.0036	-354	c.484 others(18): Show c.484+9696_484+10049del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SMOC2_chr6_168436184_168672992	168592681	GGGCATCT others(347): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAG GCCTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(17): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00741.hp1 HG00741.hp2 HG01261.hp1 HG01346.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03490.hp2 HG03492.hp2 HG04204.hp1 HG06807.hp2 NA18950.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0004c0009t0003	a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0132 others(17): Show a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0149 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0029 a0001c0002t0002g0058 a0001c0002t0002g0065 a0001c0002t0002g0067 a0004c0009t0003g0088	20	180	0.1111	-354	c.638 others(17): Show c.638-6136_638-5783del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SPPL2B_chr19_2323684_2360095	2349667	TCGTGTTC others(347): Show TCGTGTTCTCATTCGCCTGATTCCGTTCTCTCTCCACACACACTCGTGTT CTCATTCGCTTGATTCCGTTCTCTCTCTCCACACACATGCGCTCTCATTT GCTTGATTCCGTTCTCTCTCCACACACACTCACGCGCTCTCATTCGCTTG ACTCTGTTCTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCC GTTCTCTCTCTCCACACACACTCGCGCCCTCATTCGCTTGATTCCATTCT CTCTCTCCACACACACTCACATGCTCTCATTTGCTTGATTCTGTTCTCTC TCTACACACACTCACGCGCTCTCATTTGCTTGATTCCGTTCTCTCCCTCG ACACA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0183 a0002c0005t0004g0183	1	414	0.0024	-354	c.135 others(19): Show c.1355-1765_1355-1412del	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSBP3_chr1_54220432_54411394	54316356	TAGGCCGG others(347): Show TAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGC AGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAATAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAT AAATA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03710.hp2 HG03942.hp2 others(2): Show HG03654.hp2 HG03710.hp2 HG03942.hp2 HG06807.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0002t0003	a0001c0001t0003g0230 a0001c0001t0005g0056 a0001c0001t0009g0175 others(2): Show a0001c0001t0003g0230 a0001c0001t0005g0056 a0001c0001t0009g0175 a0001c0001t0012g0004 a0001c0002t0003g0238	5	280	0.0179	-354	c.277 others(19): Show c.277-35183_277-34830del	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
TBCD_chr17_82747065_82950914	82764815	GTGCTCAT others(347): Show GTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAG TCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCT GTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTAC AAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGG GTGTC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	318	0.0031	-354	c.333 others(15): Show c.333+954_334-898del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMPRSS15_chr21_18264116_18408785	18315494	AATATATA others(347): Show AATATATATATATAAAATAATAAACATGAGTCCTTTGCCACAGCTCAAGG TGGAGCTAGCTTTGATACTGAGTAAATGACGAGTTAGTGGGTGCAGCACA CCAACATGGCACATGTATACACATATAACAAACCTGCACGTTGTGCACAT GTACCGTAGAACTTAAAGTATAATAAAATATATATATATAAAATAATAAA CATGAGTCCTTTGCCACAGCTCAAGGTGGAGCTAGCTTTGATACTGAGTA AATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTATACACAT GTAACAAACCTGCACGTTGTGCACGTGTACCCTAGAACTTAAAGTATAAT AAAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02257.hp2 others(9): Show HG01891.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02647.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0011	a0001c0001 a0001c0007 a0001c0015 others(5): Show a0001c0001 a0001c0007 a0001c0015 a0002c0041 a0003c0003 a0003c0009 a0009c0014 a0011c0022	a0001c0001t0001 a0001c0007t0002 a0001c0015t0001 others(5): Show a0001c0001t0001 a0001c0007t0002 a0001c0015t0001 a0002c0041t0001 a0003c0003t0001 a0003c0009t0002 a0009c0014t0004 a0011c0022t0004	a0001c0001t0001g0207 a0001c0001t0001g0254 a0001c0007t0002g0210 others(9): Show a0001c0001t0001g0207 a0001c0001t0001g0254 a0001c0007t0002g0210 a0001c0015t0001g0209 a0001c0015t0001g0213 a0001c0015t0001g0284 a0002c0041t0001g0212 a0003c0003t0001g0125 a0003c0003t0001g0255 a0003c0009t0002g0311 a0009c0014t0004g0206 a0011c0022t0004g0094	12	314	0.0382	-354	c.192 others(17): Show c.1922-592_1922-239del	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	16/24			chr21	TogoVar
TMPRSS15_chr21_18264116_18408785	18315566	TAAATGAC others(347): Show TAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTATACAC ATATAACAAACCTGCACGTTGTGCACATGTACCGTAGAACTTAAAGTATA ATAAAATATATATATATAAAATAATAAACATGAGTCCTTTGCCACAGCTC AAGGTGGAGCTAGCTTTGATACTGAGTAAATGACGAGTTAGTGGGTGCAG CACACCAACATGGCACATGTATACACATGTAACAAACCTGCACGTTGTGC ACGTGTACCCTAGAACTTAAAGTATAATAAAATATATATATATATAAAAT AATAAACATGAGTCCTTTGCCACAGCTCAAGGTGGAGCTAGCTTTGATAC TGAGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	314	0.0032	-354	c.192 others(17): Show c.1922-664_1922-311del	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	16/24			chr21	TogoVar

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Search Results (Total: 10000 hits)