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
RPH3AL_chr17_207389_357807	286965	ACCCTCTC others(421): Show ACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTC ACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGA CCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCA GACCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTC TCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACAC CCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCAC TCCCTCTCTCTCCACCGTCAGACCTCACT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG02155.hp2 others(2): Show HG01978.hp1 HG01978.hp2 HG02155.hp2 HG02886.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0004t0004	a0001c0001t0001g0045 a0001c0001t0004g0039 a0001c0001t0004g0087 others(2): Show a0001c0001t0001g0045 a0001c0001t0004g0039 a0001c0001t0004g0087 a0001c0001t0010g0131 a0001c0004t0004g0014	5	133	0.0376	-428	c.352 others(17): Show c.352-5539_352-5112del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCUBE1_chr22_43192280_43348372	43280801	TGTCACCT others(421): Show TGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTC CTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTG TCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCA CCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCA CCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCT CCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCC TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGC CACCCTCCTGTCACCTCCTCCTCAGTCAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0070 a0002c0037t0070	a0002c0037t0070g0255 a0002c0037t0070g0255	1	280	0.0036	-428	c.484 others(18): Show c.484+9817_484+10244del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291917	CCTCCGTG others(421): Show CCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCG GGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCC ATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCG TGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATG TCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGT GTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	284	0.0035	-428	c.121 others(17): Show c.1214+154_1214+581del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZNF407_chr18_74592870_75070671	74915719	GTGCTGGT others(421): Show GTGCTGGTATGGTGAGGTTGTATGCAGCATTGGTTCGAATCGGGAGTGTG TGTGTGTATGTGTGTGTGTACATGTGTGTGCTGGTATGGTGAAGTTGTGT GAAGCATTGGTTCGAATCGGGAGTGTGTGGGTGTGTGCATGTGTGTGCTG GTATGGTGAGGTTGTGTGCAGCATTGGTTCGAATCGGGAGTGTGTGTGTG TGTGCGTGCATGTGTGTGCTGGTATGGTGAGGTTGTGTGCAGTATTGGTT CGAATCGGGAGTGTGTGTGTGTGTGTGTGCATGTGTGTGCTGGTATGGAG AGGTTGTGTGCAGCATTGGTTCGAATTGGGAGTGTGTGTGTGTGTGCGTG CATGTGTGTGCTGGTATGGTGAGGTTGTGTGCAGCATTGGTTCGAATCGG GAGTGTGTGTGTGTGTGTGTGTGCATGCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0006 a0002c0004t0002g0006	1	92	0.0109	-428	c.525 others(19): Show c.5250-4792_5250-4365del	ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF554_chr19_2814868_2841735	2818035	CCAAGGAT others(421): Show CCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAG CAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG GTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGA TGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGA CCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAG CAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAA GGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGA TAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGA CCAAGGATAACTAAGGTCAGAGCAGGTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0206 a0001c0006t0008g0206	1	410	0.0024	-428	c.-20 others(11): Show c.-2036_-1609del	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1832		chr19	TogoVar
ABCG1_chr21_42214140_42302244	42283694	ACCTGGAC others(420): Show ACCTGGACAGTTGTGAAGTACCACCCACCACCCAGATGAGTGGGGACCCC CCACCTCTGTCCTGCCTGGACAGTTGTGAAGTACCCCCCAACCCAGATGA GTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCC GCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCA AAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTG GACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGAC CCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGAT GAGTGGGGACCCCCCCACCTCTGTCCCG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	354	0.0028	-427	c.735 others(15): Show c.735-853_735-427del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABR_chr17_998519_1184981	1063174	CTGTTACG others(420): Show CTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTAC GTGAACTGAGGGCTATACATGTTCCTCTAGACACTGCTGTTACGTGAACT GAGGGCTATGCATGTTCCTCTAGACACTGCTGTTACGTGAACTGAGGGCT ATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATACATG TTCCTCTAGACACTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCT AGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCT GTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTA TGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGA GGGCTATGCATGTTGCTCTAGACACTGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01192.hp1 others(8): Show HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02273.hp1 HG02738.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0032 a0001c0001t0082 a0001c0003t0012 a0001c0003t0083	a0001c0001t0003g0222 a0001c0001t0004g0334 a0001c0001t0004g0335 others(8): Show a0001c0001t0003g0222 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0277 a0001c0001t0005g0318 a0001c0001t0007g0325 a0001c0001t0019g0057 a0001c0001t0032g0259 a0001c0001t0082g0302 a0001c0003t0012g0105 a0001c0003t0083g0285	11	337	0.0326	-427	c.118 others(19): Show c.1182+3476_1182+3902del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
AGRN_chr1_1015120_1061116	1028532	ATGGGCCA others(420): Show ATGGGCCAAGGGCACCCACAGCCACGCCACCCTTTCCGAAGGAACCGAGC CCCAGCCCCTCGTGGGCCAAGGGCGCCCACAGCCACGCCACCCTCTCCCA AGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACAGCCACGCC ACCCTCTCCCAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCC ACACCCACGCCACCCTCTCCGAAGGAACCGAGCCCCAGCCCCTCGTGGGC CAAGGGCGCCCACACCCACGCCACCCTTTCCGAAGGAACCGAGCCCCAGC CCCTCGTGGGCCAAGGGCGCCCACAGCCACGCCACCCTTTCCGAAGGAAC CGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACACCCACGCCACCCTT TCCGAAGGAACCGAGCCCCAGCCCCTCG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0139 a0012c0021t0001g0139	1	210	0.0048	-427	c.463 others(17): Show c.463+6083_464-6306del	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1028613	GCCACGCC others(420): Show GCCACGCCACCCTCTCCCAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAA GGGCGCCCACAGCCACGCCACCCTCTCCCAAGGAACCGAGCCCCAGCCCC TCGTGGGCCAAGGGCGCCCACACCCACGCCACCCTCTCCGAAGGAACCGA GCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACACCCACGCCACCCTTTCC GAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACAGCCACG CCACCCTTTCCGAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGC CCACACCCACGCCACCCTTTCCGAAGGAACCGAGCCCCAGCCCCTCGTGG GCCAAGGGCGCCCACAGCCACGCCACCCTCTCCCAAGGAACCGAGCCCCA GCCCCTCGTGGGCCAAGGGCGCCCACAC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0003 a0001c0063t0003	a0001c0063t0003g0189 a0001c0063t0003g0189	1	210	0.0048	-427	c.463 others(17): Show c.463+6225_464-6164del	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
BRSK2_chr11_1384934_1467689	1430519	CCAGCAGT others(420): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18612.hp2 NA18982.hp1 HG00408.hp2 NA18612.hp2 NA18982.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0009 a0002c0002t0008 a0005c0010t0002 a0001c0001t0009 a0002c0002t0008 a0005c0010t0002	a0001c0001t0009g0153 a0002c0002t0008g0151 a0005c0010t0002g0085 a0001c0001t0009g0153 a0002c0002t0008g0151 a0005c0010t0002g0085	3	360	0.0083	-427	c.92- others(15): Show c.92-5404_92-4978del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CMKLR2_chr2_206170316_206218371	206172705	CGGGAGAG others(420): Show CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGACGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACGGGAGA GGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGA GGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGA GGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGA GGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGA CGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGA GAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGA GACGGGAGAGGGAGAGGGAGACGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	322	0.0031	-427	c.30 others(11): Show c.3048_*3474del	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2610		chr2	TogoVar
COP1_chr1_175939831_176212286	176132538	AATATATA others(420): Show AATATATACACACATATACACATATGTACGTATATATACTATATATACAC ACATATACACATATGTACGTATATATACTATATATACACACATATACACA TATGTACGTATATATACTATATATACACACATATACACATATGTACGTAT ATATACTATATATACACACATATACACATATGTACGTATATATACTATAT ATACACACATATACACATATGTACGTATATATACTATATATACACACATA TACACATATGTACGTATATATTATATATACACACATATACACATATGTAC GTATATATACTATATATACACACATATACACATATGTACGTATATATACT ATATATACACACATATACACATATGTACGTATATATACTATATATACACA CATATACACATATGTACGTATATATACT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01071.hp1 others(2): Show HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01243.hp2 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0261	5	300	0.0167	-427	c.968 others(17): Show c.968+2045_968+2471del	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
DOCK8_chr9_209865_470255	380030	TGCAGGGG others(420): Show TGCAGGGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCA GGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGG CTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGC ACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCT GCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGT GGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCG CTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGA TGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTA GGAGGCTGAGATGGCAGGATCGCTTGGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02647.hp2 others(6): Show HG02055.hp2 HG02486.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02965.hp2 HG03098.hp2 NA20300.hp1	a0002 a0007 a0010 others(5): Show a0002 a0007 a0010 a0013 a0019 a0022 a0045 a0046	a0002c0107 a0007c0009 a0010c0106 others(6): Show a0002c0107 a0007c0009 a0010c0106 a0013c0093 a0013c0094 a0019c0031 a0022c0152 a0045c0038 a0046c0045	a0002c0107t0001 a0007c0009t0001 a0010c0106t0008 others(6): Show a0002c0107t0001 a0007c0009t0001 a0010c0106t0008 a0013c0093t0001 a0013c0094t0001 a0019c0031t0001 a0022c0152t0001 a0045c0038t0001 a0046c0045t0003	a0002c0107t0001g0073 a0007c0009t0001g0078 a0010c0106t0008g0075 others(6): Show a0002c0107t0001g0073 a0007c0009t0001g0078 a0010c0106t0008g0075 a0013c0093t0001g0009 a0013c0094t0001g0095 a0019c0031t0001g0220 a0022c0152t0001g0175 a0045c0038t0001g0026 a0046c0045t0003g0004	9	256	0.0352	-427	c.260 others(17): Show c.2605+100_2605+526del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	380085	GCTTGGAG others(420): Show GCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAG ATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCT AGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAAC CCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTC ACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGG AGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCA GGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGG CTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGC ACTCTAGGAGGCTGAGATGGCAGGATCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG01243.hp2 others(29): Show HG00639.hp2 HG01099.hp1 HG01243.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG02109.hp2 HG02257.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp2 NA18945.hp1 NA19090.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0013 a0016 a0021 a0029 a0032 a0034 a0035 a0036 a0048 a0059	a0001c0032 a0001c0036 a0001c0046 others(28): Show a0001c0032 a0001c0036 a0001c0046 a0002c0005 a0002c0012 a0002c0020 a0002c0079 a0002c0096 a0002c0097 a0002c0099 a0002c0110 a0003c0133 a0004c0039 a0005c0155 a0007c0078 a0007c0108 a0007c0109 a0009c0060 a0010c0091 a0013c0080 a0016c0081 a0016c0100 a0021c0147 a0021c0162 a0029c0082 a0032c0089 a0034c0087 a0035c0090 a0036c0123 a0048c0151 a0059c0131	a0001c0032t0006 a0001c0036t0001 a0001c0046t0006 others(28): Show a0001c0032t0006 a0001c0036t0001 a0001c0046t0006 a0002c0005t0001 a0002c0012t0001 a0002c0020t0003 a0002c0079t0002 a0002c0096t0001 a0002c0097t0002 a0002c0099t0004 a0002c0110t0002 a0003c0133t0001 a0004c0039t0004 a0005c0155t0001 a0007c0078t0001 a0007c0108t0012 a0007c0109t0002 a0009c0060t0003 a0010c0091t0001 a0013c0080t0001 a0016c0081t0001 a0016c0100t0004 a0021c0147t0002 a0021c0162t0001 a0029c0082t0001 a0032c0089t0001 a0034c0087t0001 a0035c0090t0003 a0036c0123t0001 a0048c0151t0003 a0059c0131t0002	a0001c0032t0006g0127 a0001c0036t0001g0033 a0001c0046t0006g0063 others(29): Show a0001c0032t0006g0127 a0001c0036t0001g0033 a0001c0046t0006g0063 a0002c0005t0001g0191 a0002c0012t0001g0093 a0002c0020t0003g0038 a0002c0020t0003g0039 a0002c0079t0002g0053 a0002c0096t0001g0010 a0002c0097t0002g0121 a0002c0099t0004g0031 a0002c0110t0002g0040 a0003c0133t0001g0142 a0004c0039t0004g0056 a0005c0155t0001g0176 a0007c0078t0001g0035 a0007c0108t0012g0229 a0007c0109t0002g0094 a0009c0060t0003g0241 a0010c0091t0001g0076 a0013c0080t0001g0061 a0016c0081t0001g0082 a0016c0100t0004g0054 a0021c0147t0002g0178 a0021c0162t0001g0014 a0029c0082t0001g0228 a0032c0089t0001g0120 a0034c0087t0001g0083 a0035c0090t0003g0019 a0036c0123t0001g0240 a0048c0151t0003g0174 a0059c0131t0002g0069	32	256	0.1250	-427	c.260 others(17): Show c.2605+525_2605+951del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
MLPH_chr2_237482251_237560322	237522143	CAAACACC others(420): Show CAAACACCTGCTACAACTATAGTGCTGGAGCGGAGCAGGGCTGAGACTGG GGTTGGGCCTTCAAACACCTGCTACAACTATAGTGCTGGAGTGGAGCTGG GCTGAGACTGGGGTTGGACCTTCAAACACCTGCTACAACTATAGTGCTGG AGCGGAGCAGGGCTGAGACTGGGGTTGGGCCTTCAAACACCTGTTACAAC TATAGTGCTGGAGTGGAGCAGGGCTGAGACTGGGCTTGGACCTTCAAACA CCTGCTACAACTATAGTGCTGGAGCGGAGCAGGGCTGAGACTGGGGTTGG GCCTTCAAACACCTGCTACAACTATAGTGCTGGAGTGGAGCTGGGCTGAG ACTGGGGTTGGGCCTTCAAACACCTGCTACAACTATAGTGCTGGAGCGGA GCAGGGCTGAGACTGGGCTTGGACCTTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG01346.hp1 others(34): Show HG00280.hp2 HG00621.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG02083.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02735.hp2 HG02922.hp2 HG03130.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03942.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18957.hp2 NA18980.hp1 NA19043.hp2 NA19067.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0005 a0008 a0011 others(10): Show a0005 a0008 a0011 a0013 a0014 a0015 a0016 a0024 a0025 a0026 a0027 a0033 a0034	a0005c0004 a0008c0009 a0011c0012 others(10): Show a0005c0004 a0008c0009 a0011c0012 a0013c0017 a0014c0023 a0015c0024 a0016c0025 a0024c0038 a0025c0039 a0026c0040 a0027c0041 a0033c0031 a0034c0032	a0005c0004t0001 a0005c0004t0002 a0005c0004t0004 others(18): Show a0005c0004t0001 a0005c0004t0002 a0005c0004t0004 a0008c0009t0002 a0011c0012t0001 a0011c0012t0002 a0011c0012t0003 a0013c0017t0003 a0013c0017t0010 a0014c0023t0003 a0014c0023t0016 a0015c0024t0001 a0015c0024t0005 a0016c0025t0002 a0016c0025t0003 a0024c0038t0019 a0025c0039t0008 a0026c0040t0001 a0027c0041t0002 a0033c0031t0001 a0034c0032t0002	a0005c0004t0001g0008 a0005c0004t0001g0010 a0005c0004t0001g0012 others(34): Show a0005c0004t0001g0008 a0005c0004t0001g0010 a0005c0004t0001g0012 a0005c0004t0001g0013 a0005c0004t0001g0014 a0005c0004t0001g0016 a0005c0004t0001g0017 a0005c0004t0001g0018 a0005c0004t0001g0019 a0005c0004t0001g0274 a0005c0004t0002g0009 a0005c0004t0004g0015 a0005c0004t0004g0087 a0008c0009t0002g0007 a0008c0009t0002g0102 a0008c0009t0002g0113 a0008c0009t0002g0121 a0008c0009t0002g0122 a0011c0012t0001g0103 a0011c0012t0001g0273 a0011c0012t0002g0101 a0011c0012t0003g0282 a0013c0017t0003g0005 a0013c0017t0003g0006 a0013c0017t0010g0253 a0014c0023t0003g0259 a0014c0023t0016g0104 a0015c0024t0001g0140 a0015c0024t0005g0138 a0016c0025t0002g0046 a0016c0025t0003g0270 a0024c0038t0019g0003 a0025c0039t0008g0105 a0026c0040t0001g0269 a0027c0041t0002g0268 a0033c0031t0001g0048 a0034c0032t0002g0049	37	286	0.1294	-427	c.675 others(17): Show c.675+2144_675+2570del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASA3_chr13_113972783_114137623	114006848	TCCCCACT others(420): Show TCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCC CTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCAC CTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTC CCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCACTCCTGCCCT GCCGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCAC CTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCC CACTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGC CGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTA CCCTTCTCCCCCCTCCTGCCCTGCCGCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp2 HG01167.hp2 others(16): Show HG00621.hp2 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01433.hp1 HG01943.hp1 HG01981.hp1 HG02258.hp2 HG02300.hp2 HG02723.hp1 HG04228.hp1 NA18522.hp2 NA18945.hp2 NA18954.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0009t0008	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0033 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0002g0032 a0001c0001t0005g0023 a0001c0001t0007g0034 a0001c0002t0001g0058 a0001c0009t0008g0048	19	67	0.2836	-427	c.174 others(17): Show c.1742+258_1742+684del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RNF216_chr7_5615047_5786663	5617476	CTTGGCCA others(420): Show CTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCGTGATCCACCCGCCTTGA CCTCCAAAATACTGGAATTATAGACGTGAGCCACCACGCCCAGCCAAAAA AGACACTTTTTAAGGATGGAAAAATAAAGGAGGTGGCTCACACCTGTAAT CCAAGCACTTTGGGAGGTTGGGGTGGGCCGACTGCTTGAGCCCAAGAGTT CAAGACCAGCCTGGGTAACATGGTGAGAACCTCCTTTTTTTTTTGAGACG GAGTCTCGCTTAGCTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCACCTC ACTGCAACCACTGTCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCC CGAGTAGCTGGGATTACAGGCACCCGCCATCATGCCCAGCTAATTTTTGT ACTTTAGTAGAGACAAGGTTTCACCATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	274	0.0037	-427	c.49 others(11): Show c.4957_*5383del	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding		2570		chr7	TogoVar
SCUBE1_chr22_43192280_43348372	43280969	CTCCTGTC others(420): Show CTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTT CTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTG TCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCA CCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCT CCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCC TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTT GGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGC CACCCTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp2 HG03453.hp2 NA18906.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0001 a0002c0002 a0003c0001	a0002c0002t0029 a0003c0001t0085 a0002c0002t0029 a0003c0001t0085	a0002c0002t0029g0003 a0003c0001t0085g0267 a0002c0002t0029g0003 a0003c0001t0085g0267	2	280	0.0071	-427	c.484 others(18): Show c.484+9650_484+10076del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SH3RF3_chr2_109124205_109509634	109199332	ATGGAATG others(420): Show ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0007	1	172	0.0058	-427	c.573 others(19): Show c.573+69220_573+69646del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
SHC2_chr19_411589_466033	423131	GCCCTGAC others(420): Show GCCCTGACCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGG GGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCCGCCCCTCCAGCT CCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCGG CCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCC CTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTG ACCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTC CTCCCGCCCTGACCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGT CCTGGGGGGTCCTCCCGCCCTGACCCTCGCTCCCTGGTCTCCCGCCCCTC CAGCTCCTGGTCCTGGGGGGTCCTCCCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00735.hp2 others(33): Show HG00099.hp2 HG00323.hp2 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01891.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02145.hp2 HG02148.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02735.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp2 HG03927.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18947.hp1 NA18971.hp1 NA19064.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0005c0009 a0008c0021 a0009c0015 a0010c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0002t0004 a0001c0005t0001 a0001c0005t0005 a0002c0004t0001 a0002c0004t0004 a0002c0004t0005 a0005c0009t0005 a0005c0009t0014 a0008c0021t0002 a0009c0015t0012 a0010c0022t0002	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0002g0101 others(33): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0002g0101 a0001c0001t0004g0035 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0047 a0001c0001t0005g0053 a0001c0001t0007g0041 a0001c0001t0011g0038 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0005g0026 a0002c0004t0001g0192 a0002c0004t0001g0196 a0002c0004t0004g0191 a0002c0004t0004g0200 a0002c0004t0005g0189 a0002c0004t0005g0190 a0002c0004t0005g0201 a0005c0009t0005g0048 a0005c0009t0014g0040 a0008c0021t0002g0032 a0009c0015t0012g0027 a0010c0022t0002g0184	36	212	0.1698	-427	c.131 others(18): Show c.1310-1102_1310-676del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12			chr19	TogoVar
SHC2_chr19_411589_466033	423204	ACTCCCTG others(420): Show ACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCG CCCTGACCCTCACTCCCTGGTCTCCGGCCCCTCCAGCTCCTGGTCCTGGG GGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTC CTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCCGC CCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCC TGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGA CCCTCGCTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCC TCCCCCCCTGACCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTC CTGGGGGGTCCTCCCGCCCTGACCCTCG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	212	0.0047	-427	c.131 others(18): Show c.1310-1175_1310-749del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12			chr19	TogoVar
TAFA5_chr22_48484553_48756932	48607217	CCTGGAGC others(420): Show CCTGGAGCAGGTCTGTCCCGGGTTCTGATTAGGCCTGGCCCACCCATCCC AGGTACCTCAGCCTGGAGCAGATCTGTCCTGGGTTCTGATTAGGGCTGGC CCACCCATCCCAGGTACCTCAGCCTGGAGCAGATCTGTCCTGGGTTCTGA TTAGGGATGGCCCACCCATCCCAGGTACCTCAGCCTGGAGCAGGTCTATC CCGGGTTCTGATTAGGGCTGGCCCACCCATCCCAGGTACCTCAGTCTGGA GCAGGTCTGTCCCGGGTTCTGATTAGGGCTGGCCCACCCATCCCAGGTAC CTCAGCCTGGAGCAGGTCTGTCCTGGGTTCTGATTAGGCCTGGCCCACCC ATCCCAGGTACCTCAGCCTGGAGCAGATCTGTCCTGGGTTCTGATTAGGG CTGGCCCACCCATCCCAGGTACCTCAGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp2 others(32): Show HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00621.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02723.hp2 HG02809.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 NA18522.hp2 NA18972.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0024 a0001c0003t0012	a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0061 others(32): Show a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0085 a0001c0001t0001g0114 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0220 a0001c0001t0001g0236 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0188 a0001c0001t0002g0239 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0056 a0001c0001t0003g0088 a0001c0001t0003g0160 a0001c0001t0003g0201 a0001c0001t0004g0189 a0001c0001t0007g0031 a0001c0001t0009g0043 a0001c0001t0013g0049 a0001c0001t0024g0202 a0001c0003t0012g0144	35	258	0.1357	-427	c.113 others(19): Show c.113-39361_113-38935del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ABCG1_chr21_42214140_42302244	42283665	AATGAGTG others(419): Show AATGAGTGGGGAACCCCCACCTCTTTCCCACCTGGACAGTTGTGAAGTAC CACCCACCACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGAC AGTTGTGAAGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTG TCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCC CCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAG TGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCC GCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCG AAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	354	0.0028	-426	c.735 others(15): Show c.735-883_735-458del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283713	ACCACCCA others(419): Show ACCACCCACCACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGG ACAGTTGTGAAGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATG AGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCC CCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTG CGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGC CTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACC TCTGTCCCGCCTGGACAGTTGCGAAGT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01167.hp2 others(13): Show HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp1 HG02109.hp2 HG02258.hp1 HG02559.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 a0001c0002t0002 a0001c0002t0004 a0001c0006t0001 a0001c0007t0015 a0001c0011t0004	a0001c0001t0001g0155 a0001c0001t0001g0278 a0001c0001t0004g0086 others(11): Show a0001c0001t0001g0155 a0001c0001t0001g0278 a0001c0001t0004g0086 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0269 a0001c0001t0004g0280 a0001c0001t0004g0325 a0001c0001t0031g0077 a0001c0002t0002g0078 a0001c0002t0004g0004 a0001c0006t0001g0006 a0001c0007t0015g0348 a0001c0011t0004g0087	16	354	0.0452	-426	c.735 others(15): Show c.735-844_735-419del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABR_chr17_998519_1184981	1062199	CGTGAACT others(419): Show CGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTATGTGAAC TGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGC TATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGAGGGCTATGCAT GTTCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTC TAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGCACT GCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTA TGTGAACTGAGGGATATGCATGTTCCTCTAGACACTGTTGTTATGTGAAC TGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTAT GCATGTTCCTCTAGACACTGTTGTTAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01192.hp1 others(8): Show HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02273.hp1 HG02738.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0032 a0001c0001t0082 a0001c0003t0012 a0001c0003t0083	a0001c0001t0003g0222 a0001c0001t0004g0334 a0001c0001t0004g0335 others(8): Show a0001c0001t0003g0222 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0277 a0001c0001t0005g0318 a0001c0001t0007g0325 a0001c0001t0019g0057 a0001c0001t0032g0259 a0001c0001t0082g0302 a0001c0003t0012g0105 a0001c0003t0083g0285	11	337	0.0326	-426	c.118 others(19): Show c.1183-3758_1183-3333del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1238348	CCCCTCTG others(419): Show CCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT TCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCC TCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0002 a0002c0002t0007g0002	1	106	0.0094	-426	c.136 others(19): Show c.1361+3357_1361+3782del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CACNA1C_chr12_2047987_2702950	2105868	GCTGGGCA others(419): Show GCTGGGCATCGTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACC TCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCC ACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGT TTCCACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCTGGAGA AGGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCTGG AGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCC TGGAGAGAGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGTGCCCA CCCCGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGGCGC CCACCCCGGGGAGGATTTCTACCTCAT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19030.hp1 HG01496.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0012 a0003c0027 a0001c0012 a0003c0027	a0001c0012t0007 a0003c0027t0011 a0001c0012t0007 a0003c0027t0011	a0001c0012t0007g0076 a0003c0027t0011g0013 a0001c0012t0007g0076 a0003c0027t0011g0013	2	104	0.0192	-426	c.50- others(15): Show c.50-9350_50-8925del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CSNK2A1_chr20_467498_548790	500800	GGCTAATT others(419): Show GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAA GTGCCAATACTCTTATAAATGAACCCCTCCATTCTAAAGAGTATTCTGCA GAGCATATCTTAAACATTCCTTTGTCCTTACCCATTCTTTCCACATCTGT TCTAGTATGGAATCCTTTTCATTTTTTTCTGAGGAGGGCCTTGGTCCCAC TGCACCTCCTTTATAAAGCCTTTTTTTTTTTTTGAGACAGAGTCTTGCTC TGTCGCCCAGGCTGGAGTGTAGTAGCATGATCTCAGCTCACTGCAACTTC CGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GATTACAGGCGCCAGCCACCATGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20129.hp1 HG02559.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0127 a0001c0001t0004g0128	2	316	0.0063	-426	c.214 others(16): Show c.214-1292_214-867del	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	4/13			chr20	TogoVar
FOXN3_chr14_89151177_89422233	89362245	ACCTCCAG others(419): Show ACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCAC CACCACCACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCA CCACCACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACC TCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTC CAGCACCAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCA CCATCTCCACCACCACCACCACCATCTCTACGACCACCACCACCACCATC TCCACCACCACCTCCACCACCACCACCACCACCATCTCTACGACCACCAC CACCACCACCATCTCTACGACCACCACCACCTCCACCACCATCTCCACCA CCACCACCACCATCTCCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	230	0.0044	-426	c.544 others(19): Show c.544-11863_544-11438del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRYL_chr4_48492357_48785279	48659499	GGGAGAAG others(419): Show GGGAGAAGAAGAAGAGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp2 HG00733.hp1 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0243 a0001c0002t0001g0077 a0001c0002t0001g0243	2	282	0.0071	-426	c.-81 others(19): Show c.-81+24748_-80-25010del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
MYO9B_chr19_17070777_17218286	17150582	GGTGATGG others(419): Show GGTGATGGCGGACCCTGTGATAGACCGGCCCCACCAGACTTAGCCAGCCC CAGCTGGTGCGAAAGGATCCCACCAGGCCACCCTCTTCCCACAGGGGCCC TGGGCAGCACATAGTCTCACCAAGCCTTGGCTCCTTGTCCACTCCTCAGG AGCCACCGTGCCTGCCCCAGTATGGAAGAGGAGTCCCTGAGAAATACATC AAATGATGCCTAGAACATATTTTTCCTCGAAAAAACATTCACTGCCACTA CTTTTAGCATTGAGAGATATTTGGGGCTGCAGAGACACCCCAGTCCCTGT GCTGGTACCCTCAGACTCAAGGTCCCACATGATGCCAGGTGCCTCCTGAG GGACCTCTGAGAACTTAATTTGGAGGAAACACTTTAACTGCTTGGCACAG AGAAAATGATTGGTAAGGCCGGGCGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(23): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00639.hp2 HG00673.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01975.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02970.hp2 HG03654.hp2 NA18945.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0020 a0032	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0019 a0001c0071 a0002c0002 a0002c0005 a0002c0008 a0002c0012 a0002c0013 a0002c0068 a0002c0069 a0008c0023 a0020c0039 a0032c0051	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(13): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0010t0001 a0001c0019t0001 a0001c0071t0001 a0002c0002t0002 a0002c0005t0002 a0002c0008t0001 a0002c0012t0002 a0002c0013t0002 a0002c0068t0001 a0002c0069t0002 a0008c0023t0002 a0020c0039t0001 a0032c0051t0001	a0001c0001t0001g0033 a0001c0001t0001g0079 a0001c0001t0001g0085 others(23): Show a0001c0001t0001g0033 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0256 a0001c0003t0001g0027 a0001c0004t0001g0125 a0001c0010t0001g0055 a0001c0010t0001g0073 a0001c0019t0001g0097 a0001c0071t0001g0064 a0002c0002t0002g0207 a0002c0005t0002g0188 a0002c0008t0001g0024 a0002c0008t0001g0078 a0002c0012t0002g0071 a0002c0012t0002g0245 a0002c0013t0002g0029 a0002c0068t0001g0062 a0002c0069t0002g0074 a0008c0023t0002g0041 a0020c0039t0001g0090 a0032c0051t0001g0185	26	262	0.0992	-426	c.936 others(17): Show c.936-2058_936-1633del	MYO9B	ENSG00000099331.14	transcript	ENST00000682292.1	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr19	TogoVar
PARD3B_chr2_204540475_205625162	205134515	CCCTGTCT others(419): Show CCCTGTCTCAAAAAACAAAGTCAGAAATAGCTTTTAAGTAAGACTTCCAC CTCACTGAGGTAAATGCTGTACCTTCTCTCACTTGTGCAATGTGCTCAGA GACTGGGTCCTTAATCATGGCCAGCTTTTTGAATGTGCTCAATAGCCCAC AAGGCCAAGGGATTAATAGTCATTTGCTGCTCCCTAAGAAGTACTTATAT CTGGAAGAATTCTACTGAACTATTGTCAGCAAAATCTAGTCTTGATAAAA TAGGTGATGATAAATGCTGTGGTTCAGCATTATTAAAACAGATGGAGGAA GTGCGGGGCTATTTTGCTGGGTTGTATGGCTTCCAGGTGTCAGAATGTAA ATACTTAATGGCTTTTATCACAAGATGGGTTTTGTTGGAGATTGGAAGGT AGTGGAAGGAGGAGTGTTCTATGTTGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0019 a0003c0010t0019	a0003c0010t0019g0030 a0003c0010t0019g0030	1	54	0.0185	-426	c.143 others(19): Show c.1434+8779_1434+9204del	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	10/22			chr2	TogoVar
PRKCA_chr17_66297613_66815743	66799103	GTGATGGT others(419): Show GTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGATGGTAATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	178	0.0056	-426	c.185 others(19): Show c.1855-4767_1855-4342del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	286969	TCTCTCCA others(419): Show TCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACAC CCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTC ACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTC TCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTC TCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCC TCTCTCTCCACCGTCAGACCTCACTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(26): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG01070.hp1 HG01070.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01943.hp1 HG01943.hp2 HG02027.hp2 HG02148.hp1 HG02148.hp2 HG02698.hp1 HG02738.hp2 HG02818.hp1 HG03017.hp1 HG03831.hp1 HG04184.hp1 HG04184.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0004c0007 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0002c0005t0023 a0004c0007t0007 a0006c0009t0001	a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0110 others(26): Show a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0002g0061 a0001c0001t0003g0084 a0001c0001t0004g0008 a0001c0001t0004g0092 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0005g0100 a0001c0001t0006g0120 a0001c0001t0007g0032 a0001c0001t0008g0130 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0015g0036 a0001c0001t0016g0082 a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0002t0001g0057 a0001c0002t0003g0033 a0001c0002t0009g0126 a0002c0005t0023g0125 a0004c0007t0007g0117 a0006c0009t0001g0054	29	133	0.2181	-426	c.352 others(17): Show c.352-5541_352-5116del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SARDH_chr9_133658560_133743352	133668471	CCCCTCGC others(419): Show CCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTC CCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCC CCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACC CTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCC TACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTC ACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG02630.hp1 others(3): Show HG00280.hp2 HG00323.hp2 HG02630.hp1 HG02818.hp2 HG04184.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0008 a0002c0010 others(1): Show a0001c0001 a0002c0008 a0002c0010 a0003c0003	a0001c0001t0001 a0002c0008t0001 a0002c0008t0002 others(3): Show a0001c0001t0001 a0002c0008t0001 a0002c0008t0002 a0002c0010t0001 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0172 a0002c0008t0001g0042 a0002c0008t0002g0025 others(3): Show a0001c0001t0001g0172 a0002c0008t0001g0042 a0002c0008t0002g0025 a0002c0010t0001g0076 a0003c0003t0001g0143 a0003c0003t0002g0256	6	262	0.0229	-426	c.249 others(19): Show c.2495+1687_2496-1602del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SLC9A5_chr16_67243979_67277191	67273085	CTCCCGAA others(419): Show CTCCCGAAGTGCTGGGATTACAGGTGTAAGCCACTGTGCCTGGCATATAT ATATATAATTATATATAATATATATAATAATATATATTATATATTATATA TTAATATAATATATAATATATATAATATATATTATATATAATAAATATAT AATATATAATATATATTATATATAATAAATATATAATATTATATAATTAT ATATTATATAATATATATTATATATATTATATAATATATATATTTTTTTT TCCTGGAGGTAGGGCCTCACAATGTTGCTCAGGCTGTTCTTGAACTCCTG ACCTCAAATAATCCTCCTGCTTTGACCTCCTCAAGTGTTGGAATTACAGG TGTGAGCCACCTCACCTGGCCATCTCTGAGTGTTTATGATGCAAATCAGA TAGTGTGGGGTCCAGAAACATGAATAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	204	0.0049	-426	c.18 others(11): Show c.1876_*2301del	SLC9A5	ENSG00000135740.17	transcript	ENST00000299798.16	protein_coding		895		chr16	TogoVar
SORCS2_chr4_7187538_7747827	7363429	TATCATCA others(419): Show TATCATCACCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTC ACCATAACCATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGT ATCACCATTACCATCACCGTCACCATAACCATGCCTCACCATCATCATCA CCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAAC CATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGTATCACCAT TACCATCACCGTCACCATAACCATGCCTCACCATCATCATCACCATCACC ACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAACCATGCCTC ACCATCATCATCACCATCACCACCATTGTGGTGTATCACCATTACCATCA CCGTCACCATAACCATGCCTCACCATC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp1 HG02258.hp1 others(4): Show HG00639.hp1 HG01167.hp1 HG02258.hp1 HG02572.hp2 HG03710.hp2 NA19043.hp1 NA19240.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0014 others(4): Show a0001c0001 a0001c0003 a0001c0014 a0001c0028 a0003c0013 a0004c0043 a0005c0008	a0001c0001t0010 a0001c0003t0052 a0001c0014t0019 others(4): Show a0001c0001t0010 a0001c0003t0052 a0001c0014t0019 a0001c0028t0028 a0003c0013t0021 a0004c0043t0037 a0005c0008t0001	a0001c0001t0010g0129 a0001c0003t0052g0147 a0001c0014t0019g0139 others(4): Show a0001c0001t0010g0129 a0001c0003t0052g0147 a0001c0014t0019g0139 a0001c0028t0028g0152 a0003c0013t0021g0100 a0004c0043t0037g0058 a0005c0008t0001g0029	7	168	0.0417	-426	c.481 others(19): Show c.481-32622_481-32197del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORL1_chr11_121447314_121638763	121481238	CTCCATCT others(419): Show CTCCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGCACAGATACCTATAGG CAGGCTCCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGCACAGATACCTA TAAGCAAGCTCCATCTCCTCCTCCCCAGCTTCTTCCATAGTGCACAGATA CCTATAGGCAGGCTCCATCTCCTCCTCCCCAGCTCCTCTCCTAGTGCACA GATACCTATAGGCAGGCTTCATCTCCTCCTCCCCAGCTCCTCCCCTAGTG CACAGATACCTATAGGCAGGCTTCATCTCCTCCTCCCCAGCTCCTTCCCT AGTGCACAGATACCTATAGGCAGGCTTCATCTCCTCCTCCCCAGCTCCTC CCCTAGTGCACAGATACCTATAGGCAGGCTTCATCTCCCCAGCTCCTCCC CTAGTGCACAGATACCTATAGGCAGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01167.hp2 others(23): Show HG00099.hp2 HG00735.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp2 HG01496.hp1 HG01993.hp1 HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03453.hp2 HG04199.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0002 a0001c0003 a0001c0004 others(11): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0001c0022 a0001c0023 a0001c0035 a0001c0058 a0002c0030 a0003c0034 a0004c0041 a0010c0037	a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 others(20): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0012 a0001c0003t0023 a0001c0004t0029 a0001c0006t0001 a0001c0006t0028 a0001c0009t0003 a0001c0010t0002 a0001c0022t0003 a0001c0023t0002 a0001c0023t0003 a0001c0035t0001 a0001c0058t0011 a0002c0030t0002 a0003c0034t0003 a0004c0041t0013 a0010c0037t0005	a0001c0002t0001g0139 a0001c0002t0003g0150 a0001c0003t0002g0105 others(23): Show a0001c0002t0001g0139 a0001c0002t0003g0150 a0001c0003t0002g0105 a0001c0003t0003g0262 a0001c0003t0005g0226 a0001c0003t0005g0228 a0001c0003t0007g0264 a0001c0003t0007g0265 a0001c0003t0008g0208 a0001c0003t0008g0263 a0001c0003t0012g0184 a0001c0003t0023g0183 a0001c0004t0029g0187 a0001c0006t0001g0072 a0001c0006t0028g0031 a0001c0009t0003g0147 a0001c0010t0002g0190 a0001c0022t0003g0213 a0001c0023t0002g0070 a0001c0023t0003g0193 a0001c0035t0001g0071 a0001c0058t0011g0166 a0002c0030t0002g0212 a0003c0034t0003g0227 a0004c0041t0013g0189 a0010c0037t0005g0259	26	272	0.0956	-426	c.528 others(17): Show c.528+3051_528+3476del	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPGS1_chr19_502497_524654	523183	AGCATTTC others(419): Show AGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCATTTCCGGTGAGCACG GGCCGAGGGCTCAGCAGCAATTCCGGTGAGCACGGGCCGGGGGCTCAGCA TTTCAGTGAGCACGGGCCGGGGGCTCGGCATTTCCAGTGAGCACGGGCCG GGTGCTCCGCAGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCAGCATT TCCGGTGAGCACGGGCCGGGGGCTCAGCATTTCCGGTGAGCACGGGCCGG GGGCTCAGCAGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCAGCATTT CCGGTGAGCACGGGCCGGGGGCTCAGCATTTCCAGTGAGCACGGGCCGGG GGCTCCGCAGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCGGCATTTC CGGTGAGCACGGGCCGGGGGCTCAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG03834.hp1 HG02132.hp2 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0002 a0002c0004t0001g0145 a0001c0001t0001g0002 a0002c0004t0001g0145	2	344	0.0058	-426	c.37 others(11): Show c.3761_*4186del	TPGS1	ENSG00000141933.9	transcript	ENST00000359315.6	protein_coding		3530		chr19	TogoVar
UBAP2L_chr1_154215955_154275847	154233510	AGACGGGG others(419): Show AGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGCCCTTG TGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCC ACCGCACCTGGCCACCCAGCCTGATCTTTTAAATGAAATTGCTGTGTGTG TGTGTGTGTGTGTGTGTGTCTGTAGGTAGGTAGCTCTAGTTGTTTTCCTC CTAAATTTATGGGTGAGATTAGAGAACGTGCCCAAGAGTAGAATGCTGCT CATTCATTCTGAATTCATAGGTAACTTTTAGAAACATTTTCTTTTTTGCT TTATTTGGTATGAATGATGCTATAAAAAGTTGTGGGTCACTGACTCCGAA GGAAATTAGTTTTTTCTTTTTTTTTTTTAGCCCAGGAAATAACACTTGAA AGATAGGGACCAATAACTTGGTCCTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp1 HG02895.hp2 others(4): Show HG02257.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG03098.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0025 a0001c0002t0007g0146 a0001c0002t0007g0147 others(3): Show a0001c0002t0007g0025 a0001c0002t0007g0146 a0001c0002t0007g0147 a0001c0002t0007g0186 a0001c0002t0007g0187 a0001c0002t0007g0188	7	350	0.0200	-426	c.280 others(16): Show c.280-1077_280-652del	UBAP2L	ENSG00000143569.20	transcript	ENST00000428931.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF407_chr18_74592870_75070671	74915671	ATGCAGCA others(419): Show ATGCAGCATTGGTTCGAATCGGGAGTGTGTGTGTGTGTGTGTGTGTGTGT GCTGGTATGGTGAGGTTGTATGCAGCATTGGTTCGAATCGGGAGTGTGTG TGTGTATGTGTGTGTGTACATGTGTGTGCTGGTATGGTGAAGTTGTGTGA AGCATTGGTTCGAATCGGGAGTGTGTGGGTGTGTGCATGTGTGTGCTGGT ATGGTGAGGTTGTGTGCAGCATTGGTTCGAATCGGGAGTGTGTGTGTGTG TGCGTGCATGTGTGTGCTGGTATGGTGAGGTTGTGTGCAGTATTGGTTCG AATCGGGAGTGTGTGTGTGTGTGTGTGCATGTGTGTGCTGGTATGGAGAG GTTGTGTGCAGCATTGGTTCGAATTGGGAGTGTGTGTGTGTGTGCGTGCA TGTGTGTGCTGGTATGGTGAGGTTGTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0009 a0002c0028t0009	a0002c0028t0009g0026 a0002c0028t0009g0026	1	92	0.0109	-426	c.525 others(19): Show c.5250-4798_5250-4373del	ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF521_chr18_25056924_25357166	25084168	ATTAACAA others(419): Show ATTAACAAGGACTCCTAAAGGCCTCATCACATATTATTTAATAATGTGAG ACAGATTTTGTGTTATACTCACTGAGAAGCTGGTTTAGGACCAGTAGCTA AGTTAGCAAGTGACCCAGCAAGCCACTCAATGGTGACAATTTAATGCTGT ATTGTTGTCTTATACGTCCCATCCCATAGGCAGTAATTCATTTTTCCTTC AGCAATATGACCATAACACTCAAGCACCAGTTAAACTGTGGTGTGAAAAA TATGCATCAAAATCAGGTGATTTGGTGGAAGTGATTTGAGAAGGAAATCA AATAGCTATAGTGACAATTACACATTTAAACCTTAGTGATTTCTGAAAGT CTCGGTATATCCCTCAAATGTCAAATTACTACTGCACTTTGAATGTAGGA AACACTGCACTCATGACTTAATGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02602.hp1 HG01516.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0199 a0001c0001t0001g0170 a0001c0001t0001g0199	2	216	0.0093	-426	c.390 others(19): Show c.3906+4871_3906+5296del	ZNF521	ENSG00000198795.11	transcript	ENST00000361524.8	protein_coding	7/7			chr18	TogoVar
ZNF609_chr15_64455578_64691068	64551588	GTTATGGT others(419): Show GTTATGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAAAAAAAAAAAAAGAGAGAAAAGTAGATGTCT CAGGGAAGGGATGACCATGGAGAGGGAGAAAGACAAGAGAACAGCTGATC AATGGGGCAGTGAGAACTTACACATTTATTGATTAAGCTTACCTTCTTAT ATCGCACGTTTTGTGGCAACTACCAAACGTCTCTACTAAAAATACAAAAA TTAGCCAGGCGTGGTGGCAGGTGCTTGTATTTCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTAAACCAGGAGGCAGAGGTTGCAGTGAGCCGAG GTCGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAA AAAAAAAAAAAAAAAGTTTTTTCTTAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp1 HG01169.hp2 others(4): Show HG00323.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01934.hp2 HG02698.hp1 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0004 a0001c0002t0017 a0001c0011t0004 a0001c0002t0004 a0001c0002t0017 a0001c0011t0004	a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0002t0004g0003 others(4): Show a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0017g0004 a0001c0011t0004g0005	7	176	0.0398	-426	c.747 others(19): Show c.747+51425_747+51850del	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
BRSK2_chr11_1384934_1467689	1429550	CGGTCTGG others(418): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA20752.hp2 NA20805.hp1 HG02738.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0048 a0001c0001t0057 a0001c0001t0004 a0001c0001t0048 a0001c0001t0057	a0001c0001t0004g0190 a0001c0001t0048g0342 a0001c0001t0057g0184 a0001c0001t0004g0190 a0001c0001t0048g0342 a0001c0001t0057g0184	3	360	0.0083	-425	c.92- others(15): Show c.92-6369_92-5945del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431865	GTCTGGTC others(418): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01975.hp2 HG01978.hp1 others(15): Show HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 NA18950.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19054.hp2 NA19068.hp2 NA19083.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0012 a0002c0002t0017 a0002c0002t0035 a0002c0002t0039 a0002c0002t0054	a0001c0001t0001g0313 a0002c0002t0002g0149 a0002c0002t0007g0294 others(14): Show a0001c0001t0001g0313 a0002c0002t0002g0149 a0002c0002t0007g0294 a0002c0002t0007g0304 a0002c0002t0007g0308 a0002c0002t0007g0309 a0002c0002t0007g0346 a0002c0002t0007g0350 a0002c0002t0007g0351 a0002c0002t0012g0006 a0002c0002t0012g0347 a0002c0002t0012g0348 a0002c0002t0012g0349 a0002c0002t0017g0353 a0002c0002t0035g0296 a0002c0002t0039g0344 a0002c0002t0054g0322	18	360	0.0500	-425	c.92- others(15): Show c.92-4174_92-3750del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
CFAP46_chr10_132803392_132947570	132820993	TGTGCTGA others(418): Show TGTGCTGATGTGTGCTGTGTGTGCTGTGTGCTGTGTGTGTGCTGATGTGT GCTGTGTGTGCTGTGTGCTGTGAGTGCTGATGTGTGCTGTGTGTGCTGAT GTGTGCTTTGTGTGTGCTGATGTGTGCTGTGTGTGTGCTGATGTGTGCTG TGTGAGTGCTGATGTGTGCTGTCTGTGCGCTGATGTGTGCTGTGTGTGCT GTGTGAGTGCTGATGTGTGCTGTGTGCTGTGTGTGTGCTGATGTGTGCTG TGTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTGTGAGTGCTGATGTGTG CTGTGTGTGCTGTGTGTTGTGTGTGCTGTGTGAGTGCTGATGTGTGCTGT GTGCTGATGTGTGCTGTGTGTGCTGTGTGCTGTGTGTGCACTGATGTGTG CTGTGTGTGTGCTGTGTGCTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	246	0.0041	-425	c.711 others(19): Show c.7118-6504_7118-6080del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CSF1R_chr5_150048295_150091554	150062175	ACTTGAGA others(418): Show ACTTGAGATCTTATCCATCCGTTCATCTGTCCATCCATCTACCCATCCAT CCACCCACCCAACCTCCCATCCAAATATATATATATATTTTAATTGTGAT AAAACATACATGAAATTTACCATTTCAACCATTTTTAAGTGTATGGTTCA GTAGTATTAAGTAAATTACATTCTACCTTGTGCAACCAGTTTCCAGAGCT CTTTTCATCTTGCAAAACTGAAATTCTGTTCCTGTTAAAAAGCAACTCCC CTTTCCCTCCTCCAGCCCCTGGCAACCATGATTCTGCTGTCTCTGTGAAT TGCACTGCTCTAGGCACTGCACCTCAGTGGACTCACACAGCATGTGTCTA TTGAGATTGCCTTATTTCACCCAGCATAATGTCTTCAAGGTTCATTCATG CTGCAGCACAGGTCAGAATTCCCTTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00735.hp2 others(52): Show HG00099.hp1 HG00597.hp2 HG00735.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02083.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02896.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp2 HG03669.hp1 HG03831.hp2 NA18522.hp1 NA18951.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18971.hp2 NA18982.hp1 NA19000.hp2 NA19012.hp1 NA19068.hp2 NA19079.hp2 NA19086.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0003 a0002c0013 a0009c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0002t0003 a0001c0002t0005 a0001c0004t0003 a0001c0004t0014 a0001c0004t0022 a0001c0005t0003 a0001c0006t0003 a0001c0006t0004 a0002c0003t0003 a0002c0013t0003 a0009c0023t0003	a0001c0001t0001g0186 a0001c0001t0003g0060 a0001c0001t0003g0124 others(52): Show a0001c0001t0001g0186 a0001c0001t0003g0060 a0001c0001t0003g0124 a0001c0001t0005g0058 a0001c0001t0005g0391 a0001c0001t0005g0392 a0001c0001t0006g0016 a0001c0001t0006g0026 a0001c0001t0006g0033 a0001c0001t0006g0053 a0001c0001t0006g0104 a0001c0001t0006g0131 a0001c0001t0006g0201 a0001c0001t0006g0237 a0001c0001t0014g0090 a0001c0002t0003g0118 a0001c0002t0003g0133 a0001c0002t0003g0210 a0001c0002t0003g0218 a0001c0002t0005g0343 a0001c0004t0003g0038 a0001c0004t0003g0107 a0001c0004t0003g0110 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0120 a0001c0004t0003g0126 a0001c0004t0003g0129 a0001c0004t0003g0130 a0001c0004t0003g0138 a0001c0004t0003g0141 a0001c0004t0003g0144 a0001c0004t0003g0145 a0001c0004t0003g0148 a0001c0004t0003g0192 a0001c0004t0003g0197 a0001c0004t0003g0204 a0001c0004t0003g0206 a0001c0004t0003g0207 a0001c0004t0003g0213 a0001c0004t0003g0219 a0001c0004t0014g0378 a0001c0004t0014g0379 a0001c0004t0022g0299 a0001c0005t0003g0332 a0001c0005t0003g0335 a0001c0006t0003g0194 a0001c0006t0003g0196 a0001c0006t0004g0081 a0002c0003t0003g0160 a0002c0003t0003g0262 a0002c0003t0003g0320 a0002c0003t0003g0337 a0002c0013t0003g0290 a0009c0023t0003g0382	55	406	0.1355	-425	c.162 others(17): Show c.1627-751_1627-327del	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	10/20			chr5	TogoVar
DGKB_chr7_14140049_14907751	14211875	TTTTACTC others(418): Show TTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTT TTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGAT ATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0067 a0001c0004t0003g0067	1	148	0.0068	-425	c.212 others(21): Show c.2123-34149_2123-33725del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
GPR158_chr10_25170001_25607229	25203596	CTGTTCCA others(418): Show CTGTTCCATTGGTGTATATCTGTGTTTTGGTACCAGTACCATGCTGTTTT TGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCT CCAGCTTTGTTCTTTTGGCTTAGGATTGTCTTGGTAATGCAGGCTCTTTT TTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTTTCAAATTCTGTGAAG AAAGTCATTGGTAGCTTGATGGGGATGGCACTGAATCTATAAATTACCTT GGGCAGTTTGGCCATTTTCACAATATTGATTCTTCCTATCCATGAGCATG GAATGTTCTTCCATTTGTTTGTATCCTCTTTTATTTCATTGAGCAGTGGT TTGTACTTCTCCTTGAAGAGGGCCTTCACGTCCCTTGTAAGTGGGATTCC TAGGTATTTTATTCTTTTTAGCAATT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00642.hp1 others(48): Show HG00323.hp1 HG00323.hp2 HG00642.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03704.hp1 HG04115.hp1 HG04204.hp2 NA18940.hp2 NA18954.hp2 NA18956.hp2 NA18961.hp2 NA18968.hp1 NA18973.hp2 NA18978.hp1 NA18986.hp1 NA18988.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0002c0010 others(8): Show a0001c0001 a0002c0002 a0002c0010 a0002c0018 a0003c0003 a0003c0019 a0004c0004 a0005c0005 a0006c0006 a0007c0008 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0022 a0001c0001t0023 a0002c0002t0001 a0002c0002t0003 a0002c0002t0012 a0002c0010t0001 a0002c0018t0020 a0003c0003t0002 a0003c0003t0003 a0003c0003t0009 a0003c0003t0011 a0003c0019t0003 a0004c0004t0002 a0004c0004t0003 a0005c0005t0001 a0005c0005t0002 a0005c0005t0006 a0005c0005t0018 a0006c0006t0001 a0006c0006t0002 a0007c0008t0003 a0008c0009t0002 a0008c0009t0003	a0001c0001t0001g0117 a0001c0001t0001g0156 a0001c0001t0002g0023 others(48): Show a0001c0001t0001g0117 a0001c0001t0001g0156 a0001c0001t0002g0023 a0001c0001t0002g0118 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0135 a0001c0001t0004g0119 a0001c0001t0004g0124 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0007g0141 a0001c0001t0022g0138 a0001c0001t0023g0128 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0003g0142 a0002c0002t0012g0140 a0002c0010t0001g0153 a0002c0018t0020g0157 a0003c0003t0002g0005 a0003c0003t0003g0131 a0003c0003t0003g0133 a0003c0003t0003g0147 a0003c0003t0009g0127 a0003c0003t0009g0145 a0003c0003t0011g0006 a0003c0019t0003g0120 a0004c0004t0002g0012 a0004c0004t0003g0121 a0004c0004t0003g0139 a0004c0004t0003g0143 a0004c0004t0003g0144 a0005c0005t0001g0073 a0005c0005t0001g0150 a0005c0005t0002g0151 a0005c0005t0006g0071 a0005c0005t0018g0072 a0006c0006t0001g0075 a0006c0006t0001g0077 a0006c0006t0002g0074 a0006c0006t0002g0076 a0007c0008t0003g0123 a0007c0008t0003g0146 a0007c0008t0003g0148 a0008c0009t0002g0122 a0008c0009t0003g0134	51	162	0.3148	-425	c.903 others(19): Show c.903-17455_903-17031del	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	1/10			chr10	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(418): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19240.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0331 a0001c0001t0001g0253 a0001c0001t0001g0331	2	350	0.0057	-425	c.27 others(11): Show c.2739_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar

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Search Results (Total: 10000 hits)