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
SLC12A7_chr5_1045384_1117063	1070143	CCCCCAGC others(540): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGT GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAG CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCA GCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0004 a0002c0026t0004	a0002c0026t0004g0086 a0002c0026t0004g0086	1	118	0.0085	-547	c.224 others(19): Show c.2241+2943_2241+3489del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TCF3_chr19_1604292_1657615	1628356	CAGGGGGT others(540): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGC TCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGG ATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01099.hp1 HG00639.hp2 HG01081.hp2 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0060 a0001c0003t0001 a0001c0003t0002 a0001c0003t0060	a0001c0003t0001g0228 a0001c0003t0002g0274 a0001c0003t0060g0273 a0001c0003t0001g0228 a0001c0003t0002g0274 a0001c0003t0060g0273	3	352	0.0085	-547	c.299 others(16): Show c.299-1477_299-931del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TSPAN11_chr12_30921748_31001599	30999496	AGCAAAGT others(540): Show AGCAAAGTCATCTAACACAAAGCCTATTTTATAACAAAGTGTTGAATGTC TCATGTAATTTATTTAATACTAGTTTGAAAGTGAAAAACAGAAATGGTTT TTGTATGGGTACTGAAAGTACGGTTTCTACTGAATGTATATGGCTTTCAC ACCATCATAAAGTTGAAAAATCATAATTTGAACCACCATAAATAGGGTAC CATCTGTCTTGGGATTCCAGAAATTTGCCCACTGGTTGGACTGGCCCTGC TCTGGATGTTGGACATGGGTAAGTTCCAGAACTCGGTAACCAGAAGAAAA ATTTCTAAGCAACAGGTACTAACCACAGGCCACTGTGCAGCCTTCCTCTA CCAGTTCACCTCTCTCCTCTCACAGGGCCAAGGGAAACTAGGCAGTGTCC AGGTCTGTCCCCGCTGGCTCTCGGCTATCTGATAGTCTCTGGAGCCACAA AGGGGAAGTCCCGAATAGCAGCATCAATCAGCAGAGCTTGGCTCAAATGT GCCCTGTGGAGTGTTGTTACTCTTTCTGTTAGCTTGAGGAGACAATAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02027.hp2 NA18612.hp2 others(12): Show HG02015.hp2 HG02027.hp2 NA18612.hp2 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18971.hp2 NA18984.hp2 NA18991.hp1 NA19002.hp1 NA19012.hp1 NA19057.hp2 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 others(6): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0071 a0002c0002t0001 a0002c0002t0006 a0002c0002t0061 a0003c0003t0006 a0004c0006t0007	a0001c0001t0006g0285 a0001c0001t0006g0328 a0001c0001t0008g0084 others(12): Show a0001c0001t0006g0285 a0001c0001t0006g0328 a0001c0001t0008g0084 a0001c0001t0008g0105 a0001c0001t0012g0032 a0001c0001t0012g0164 a0001c0001t0071g0297 a0002c0002t0001g0081 a0002c0002t0006g0033 a0002c0002t0006g0132 a0002c0002t0006g0250 a0002c0002t0006g0254 a0002c0002t0061g0252 a0003c0003t0006g0166 a0004c0006t0007g0137	15	394	0.0381	-547	c.75 others(11): Show c.7582_*8128del	TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding		2898		chr12	TogoVar
ADARB2_chr10_1172313_1742525	1700301	GCAATCCC others(539): Show GCAATCCCACTCTACCAGGAGACCGGGCACTCGCCAACACACACAATCCC ACTCCACCGGGAGACCAGGCGCTCGCCAATACACTCAATCCCACTCCACC GGGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCACCAGGAGACC GGGCACTCGCCAACACACACAATCCCACTCCACCGGGAGACCAGGCGCTC GTCAATACACTCAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATAC ACTCAATCCCACTCCACCGGGAGACCAGGCACTCGCCAACACACACAATC CCACTCCACCGGGAGACCAGACGCTAGTCAATACACGCAATCCCACTCCA CCGGGAGACCGGGCGCTCGCCAATACATGCAATCCCACTCCACCGGGAGA CCAGGCGCTAGTCAATACACGCAATCCCACTCCACCAGGAGACCGGGCAC TCGCCAACACACACAATCCCACTCCACCGGGAGACCAGGCGCTCGTCAAT ACACTCAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATACACT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(56): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03669.hp1 HG03669.hp2 NA18522.hp1 NA18522.hp2 NA18967.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19011.hp1 NA19070.hp1 NA19086.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0003 a0001c0007 others(9): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0016 a0003c0006 a0004c0005 a0005c0015 a0006c0012 a0007c0011 a0011c0008	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 others(43): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0003t0009 a0001c0003t0032 a0001c0003t0039 a0001c0003t0060 a0001c0007t0066 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0026 a0002c0002t0027 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0048 a0002c0002t0053 a0002c0002t0063 a0002c0002t0064 a0002c0004t0047 a0002c0016t0006 a0003c0006t0067 a0004c0005t0002 a0004c0005t0037 a0005c0015t0014 a0006c0012t0007 a0007c0011t0034 a0011c0008t0016	a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0098 others(56): Show a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0009g0055 a0001c0001t0011g0017 a0001c0001t0011g0026 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0001t0022g0015 a0001c0001t0029g0031 a0001c0001t0030g0034 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0051g0051 a0001c0001t0052g0062 a0001c0001t0054g0083 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0003t0009g0046 a0001c0003t0032g0071 a0001c0003t0039g0044 a0001c0003t0060g0104 a0001c0007t0066g0105 a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0005g0022 a0002c0002t0006g0011 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0007g0004 a0002c0002t0008g0042 a0002c0002t0008g0047 a0002c0002t0008g0058 a0002c0002t0026g0032 a0002c0002t0027g0021 a0002c0002t0041g0074 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0048g0068 a0002c0002t0053g0106 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0004t0047g0063 a0002c0016t0006g0010 a0003c0006t0067g0080 a0004c0005t0002g0039 a0004c0005t0037g0064 a0005c0015t0014g0008 a0006c0012t0007g0006 a0007c0011t0034g0076 a0011c0008t0016g0003	59	106	0.5566	-546	c.100 others(19): Show c.100+36204_100+36749del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111240	ACCAGACA others(539): Show ACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACA ACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGA CACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATC CCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGA CAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGC CCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACG GACACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATC CCTCCTAATCCCACCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAA TCCCACCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAATCCCT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	368	0.0027	-546	c.401 others(17): Show c.401+8405_401+8950del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111450	ACCAGACA others(539): Show ACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACA ACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGA CACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCC TCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATCCCTCCTAATC CCACCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCACCAGA CAACCTGCCCGCCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACG GGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTC CCTCCTAATGCCTCCAGACCACCTGCCCGCCGTGAGCACCTCCCTCCTAA TCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATGCCT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0278 a0001c0001t0010g0278	1	368	0.0027	-546	c.401 others(17): Show c.401+8615_401+9160del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD11_chr16_89262630_89495561	89429270	ACGCTCAG others(539): Show ACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAG ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACT CTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTC TCAGGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTC AGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTC TAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACAC AGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGA CTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAAC TCTCACGCTCAGTCGTTCTAGTACACAGCAGGTACTCTCAACTCTCG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18953.hp2 NA18969.hp2 HG00544.hp1 NA18953.hp2 NA18969.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0001 a0002c0002t0002 a0004c0004t0001	a0002c0002t0002g0139 a0004c0004t0001g0207 a0004c0004t0001g0251 a0002c0002t0002g0139 a0004c0004t0001g0207 a0004c0004t0001g0251	3	310	0.0097	-546	c.-14 others(21): Show c.-144-11448_-144-10903del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429340	GACTCTCA others(539): Show GACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCA ACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGC GCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTC GTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAGACGTTCTAGT ACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCA GGGACTCTCAACTCTCAGGCTCAGTCGTTCTAGTACACAGCAGGGACTCT CAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTC ACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAG TCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTA GTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18947.hp1 HG01081.hp1 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0247 a0002c0002t0002g0173 a0001c0001t0001g0247 a0002c0002t0002g0173	2	310	0.0065	-546	c.-14 others(21): Show c.-144-11518_-144-10973del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429649	CGCTCAGT others(539): Show CGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGT CGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAG TACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGC AGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTC TCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAACTCT CGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCA GACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGTCGTTCT AGTACACAGCAGGGATTCTCAACTCTCACGCTCAGTCGTTCTAGTACACA GCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGAC TCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACT CTCGCGCTCAGTCGTTCTAGTACATAGCAGGGACTCTCAACTCTCAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp2 HG02109.hp1 HG02809.hp2	a0001 a0030 a0001 a0030	a0001c0006 a0030c0053 a0001c0006 a0030c0053	a0001c0006t0003 a0030c0053t0001 a0001c0006t0003 a0030c0053t0001	a0001c0006t0003g0126 a0030c0053t0001g0138 a0001c0006t0003g0126 a0030c0053t0001g0138	2	310	0.0065	-546	c.-14 others(21): Show c.-144-11827_-144-11282del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
C2CD4C_chr19_400445_414147	404516	GACGGGGT others(539): Show GACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAG GGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGG GTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGT CTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGAACGGGG TCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTG GAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCC TGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGA GGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGGGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGG GAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCT GAGGGGTGTGAGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	322	0.0031	-546	c.20 others(11): Show c.2034_*2579del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		928		chr19	TogoVar
CFAP97D2_chr13_114174257_114228085	114199408	CCGAGGCG others(539): Show CCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGA CGGCGCTTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCC CGTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTCCCCGTGTGTACGG TCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAG GCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCCGAGGCGTGACGGCG CGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGC GTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTG ACGGCGCGTCCCCGTGCGTACGGTCCCCGATGAGGGGTGACGGCGCGTCC CCGTGCTTACGGTCCCCGATGAGGCGTGACGGCGCGTCCCCGTGCTTACG GTCCCCGATGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	400	0.0025	-546	c.172 others(15): Show c.172-916_172-371del	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CHMP1A_chr16_89639435_89662708	89647564	AGACCCAG others(539): Show AGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	392	0.0026	-546	c.253 others(15): Show c.253-779_253-234del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647572	TGCGGGGT others(539): Show TGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	392	0.0026	-546	c.253 others(15): Show c.253-787_253-242del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647690	GGACCCAG others(539): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCC GCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	G G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0230 a0002c0003t0001g0230	1	392	0.0026	-546	c.253 others(15): Show c.253-905_253-360del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CNTN4_chr3_2093866_3062959	2453974	TATTGAAG others(539): Show TATTGAAGTGATTTCTGTGCTTGTTGCATGGATATCCTCAGAATTCTATA GCATTCTGACAGGGTAGATATAATCAGCCCCATATTATAAGCAAAGAACC TGAGGCTCGAAGAAGCTAACTTGCCTGTTGTTACATGGCAAGAGTATGGC CAGAATTCAAGTCTAGGTTGTTTAAGTTCCAAAGTCTACGTGCTTGTTTC CTACTCCATTAGTGATCTTACCTCTCCTCTAGGATACCTTTCATATTAAT TTGATACTCAGTAAGTATTTCATGATTGAAGTGATTTCTGTGCTTGTTGC ATGGATATCCTCAGAATTCTATAGCATTCTGACAGGGTAGATATAATCAG CCCCATATTATAAGCAAAGAACCTGAGGCTCGAAGAAGCTAACTTGCCTG TTGTTACATGGCAAGAGTATGGCCAGAATTCAAGTCTAGGTTGTTTAAGT TCCAAAGTCTACGTGCTTGTTTCCTACTCCATTAGTGATCTTACCTCTCC TCTAGGATACCTTTCATATTAATTTGATACTCAGTAAGTATTTCATG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01169.hp2 HG01361.hp1 others(24): Show HG00735.hp2 HG01169.hp2 HG01361.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03654.hp2 HG03831.hp1 HG04184.hp1 NA18906.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0022 a0001c0024 a0002c0014 a0004c0011 a0005c0012 a0006c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0012 a0001c0003t0003 a0001c0004t0002 a0001c0005t0006 a0001c0005t0010 a0001c0006t0002 a0001c0007t0004 a0001c0009t0014 a0001c0022t0003 a0001c0024t0015 a0002c0014t0001 a0004c0011t0003 a0005c0012t0009 a0006c0028t0001	a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0002g0030 others(24): Show a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0002g0030 a0001c0001t0003g0006 a0001c0001t0003g0058 a0001c0001t0003g0101 a0001c0001t0008g0089 a0001c0002t0002g0063 a0001c0002t0005g0002 a0001c0002t0005g0003 a0001c0002t0006g0071 a0001c0002t0007g0009 a0001c0002t0012g0013 a0001c0003t0003g0070 a0001c0004t0002g0022 a0001c0005t0006g0032 a0001c0005t0010g0085 a0001c0006t0002g0026 a0001c0006t0002g0051 a0001c0007t0004g0066 a0001c0009t0014g0039 a0001c0022t0003g0083 a0001c0024t0015g0057 a0002c0014t0001g0016 a0004c0011t0003g0065 a0005c0012t0009g0093 a0006c0028t0001g0023	27	116	0.2328	-546	c.-89 others(21): Show c.-89+115021_-89+115566del	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98836925	CCCCCCCA others(539): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCATCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCAGAC GGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGGCT GACACCCCCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0138 a0001c0003t0013g0138	1	330	0.0030	-546	c.571 others(19): Show c.571+11990_572-11560del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98836963	CAGAGGGG others(539): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCAT CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACC TCCCTCCCAGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCG GGCAGGGGGGCTGACACCCCCACCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0318 a0004c0008t0003g0318	1	330	0.0030	-546	c.571 others(19): Show c.571+11952_572-11598del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DOCK8_chr9_209865_470255	320647	CACTCACG others(539): Show CACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAA ACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGG CTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTG ACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCC CAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCA CGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGA CCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGC TCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGA GATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTT CTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAA AAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCG	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0025 a0025	a0025c0126 a0025c0126	a0025c0126t0002 a0025c0126t0002	a0025c0126t0002g0122 a0025c0126t0002g0122	1	256	0.0039	-546	c.827 others(17): Show c.827+3521_827+4066del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERICH1_chr8_659200_736224	675514	GTGAGGAC others(539): Show GTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCT CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGC GGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAG GCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	378	0.0027	-546	c.305 others(17): Show c.305-2013_305-1468del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
LMF1_chr16_848634_975984	952901	AACCAGCC others(539): Show AACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCT GCACGTCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGAC ACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTC CTACACGTCCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCAC ACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCCACCCCA AACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACAT GTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAG CCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACGT TCACACAGACACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGGACCCCAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	294	0.0034	-546	c.503 others(16): Show c.503+910_503+1455del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953438	CGGACCCC others(539): Show CGGACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAAC CAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACATATC CACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAA ACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCAGCCTCCTA CACGTCCACACAGACACCCCAAACCAGCCTCCTACATGTCCACACAGACA CCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAAC CAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACA TGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGA CACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCA GCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACG TCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02129.hp2 HG04184.hp2 others(5): Show HG02074.hp1 HG02129.hp2 HG04184.hp2 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA18990.hp2 NA19091.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0003 a0001c0011 others(2): Show a0001c0001 a0001c0003 a0001c0011 a0002c0007 a0015c0066	a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 a0002c0007t0001 a0015c0066t0001	a0001c0001t0001g0150 a0001c0001t0001g0239 a0001c0001t0001g0269 others(5): Show a0001c0001t0001g0150 a0001c0001t0001g0239 a0001c0001t0001g0269 a0001c0003t0001g0131 a0001c0003t0001g0183 a0001c0011t0001g0159 a0002c0007t0001g0182 a0015c0066t0001g0153	8	294	0.0272	-546	c.503 others(15): Show c.503+373_503+918del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953440	GACCCCAC others(539): Show GACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCA GCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACATATCCA CACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAAC CAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCAGCCTCCTACA CGTCCACACAGACACCCCAAACCAGCCTCCTACATGTCCACACAGACACC CACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCA GCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATG TCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACA CCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGC CTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACGTC CACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGAC	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0216 a0002c0007t0001g0216	1	294	0.0034	-546	c.503 others(15): Show c.503+371_503+916del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
PRKCA_chr17_66297613_66815743	66798999	TGGTGGTG others(539): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0094 a0001c0001t0023g0094	1	178	0.0056	-546	c.185 others(19): Show c.1855-4851_1855-4306del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133668408	CTCCCTCT others(539): Show CTCCCTCTCCCTCTCCCTTCACCCTCCCTCTCCCTTACCCTCCCTCTCCC TCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCC TCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTC TCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCCTC CCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCC CTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCAC CTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCC TCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCC TCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp1 others(43): Show HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG00733.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01516.hp1 HG01975.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02622.hp1 HG02647.hp1 HG03017.hp2 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18952.hp2 NA18971.hp2 NA18974.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19007.hp2 NA19059.hp1 NA19060.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19084.hp2 NA19091.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0007 others(13): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0001c0024 a0001c0027 a0001c0030 a0001c0041 a0001c0059 a0002c0002 a0002c0005 a0002c0008 a0002c0010 a0002c0012 a0002c0020 a0003c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0001c0024t0001 a0001c0027t0001 a0001c0030t0002 a0001c0041t0001 a0001c0059t0002 a0002c0002t0001 a0002c0005t0001 a0002c0008t0002 a0002c0010t0001 a0002c0010t0002 a0002c0012t0001 a0002c0020t0001 a0003c0017t0002	a0001c0001t0001g0078 a0001c0001t0001g0131 a0001c0001t0001g0132 others(43): Show a0001c0001t0001g0078 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0259 a0001c0001t0009g0202 a0001c0006t0001g0136 a0001c0007t0001g0159 a0001c0011t0001g0108 a0001c0024t0001g0095 a0001c0027t0001g0105 a0001c0030t0002g0241 a0001c0041t0001g0091 a0001c0059t0002g0021 a0002c0002t0001g0190 a0002c0005t0001g0123 a0002c0008t0002g0232 a0002c0008t0002g0234 a0002c0010t0001g0138 a0002c0010t0001g0140 a0002c0010t0002g0034 a0002c0012t0001g0111 a0002c0020t0001g0181 a0003c0017t0002g0255	46	262	0.1756	-546	c.249 others(19): Show c.2495+1630_2496-1539del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SGSM2_chr17_2332501_2386054	2356430	GGGGGCAG others(539): Show GGGGGCAGGGGCCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTT GGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTT GGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTT GGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATT GGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTTG GGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATTG GGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTTGG GGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATTGG GGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATTGGG GAAGGGATCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGG GAAGGGACCCCATATCTTAGAATGGTGGAATTGGGGTGTAAGGGTTA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	422	0.0024	-546	c.134 others(17): Show c.134-5203_134-4658del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC9A9_chr3_143260222_143853468	143724291	TTCTCTGC others(539): Show TTCTCTGCTTCCCCTTTGCCTTCCACCATGATTGTTAGTTTCCTGAGACC TCTCAGTCATGCTTCCTGTTAAGCCTGCGGAACTGTGAGTCAATTAAACT TCTTTTCTTCATAAATTACCCAGTCTCAGGTAGTTCTTTATAGCAGTGTG AGAATGGACTAACACACATGTCTTCATTGCCCATTTCATTCCCTGTTTGA GTGTGTCTGGAAATTTAACTTCGTGGAAAGCTCTCTTTGGGTAAAGGTGA CCGGCCAACATGGGAAATGATGGACAGTTGAGGACAGCCTCATGTAGTTA TTTCCTGGCTGGAAAACACCAATTAACATATTTCTCAAAACTGAAACAAA AAGTAGCTCCTTCAAATTATTTCAAATTATGTAAATAGGCTGAAACAAAA CTACAATGATTGCTTCTGATGAGAAGAGTCTAATGTGTTAAACACGAAAA CAATTAACTTTTATGAAAATGGATTTGGTGAGAGAAGTCAGACATTTTAC CTACCACAGAGTATTTAGAGACTTCCTCATGAATGACATTCCTAGGG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	108	0.0093	-546	c.534 others(19): Show c.534-31530_534-30985del	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	4/15			chr3	TogoVar
TYW1_chr7_66991833_67244514	67179859	ATATATAT others(539): Show ATATATATTTTTTTTTTTTGGCGGGGGACAGGGTCTTGCTGTGTCACCCA GGCTGGAGTGCGTTGGTGTGATCATGGCTCACGGCAGCCTCCACCTCCCA AGCTCAAGCAATCCTCCTGCTTCAGCCATGCCCAGCTGTTGTATTTTTTG TAGTGATGGGGTCTCTTTATGTTGCCCAGGCTGGTCTCGAATTCCTGGCC TCAAGTAATCCTCCCATCTTGGTCTTCCAATGTGCTGAGATTACAGGCGT GAGCCAGTGCACCCAGCTGAAACACTAGGCATTTCATAATTATAAGTAGA ATATGCTTTCTCTTGAATTTTGAAATTGCTGATTGCTGGCATATAATAGC TAATATTTGGTATGATACGCTGCTGCCAAGCTTGGTTCCAGATTCCACAT GCTAAATGCTACATTCAGGTAGAAACTAAGAACAGAGAGGTAATGATACC TAGTACATGGGTTGGGATTCATTCTGGCCCCCGTGTCCACATTTAACTCA CTACCGTATCCTTGGAAAGCTGTTGGTTTATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00738.hp2 others(65): Show HG00323.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01943.hp2 HG02004.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18946.hp2 NA18957.hp1 NA18970.hp1 NA18975.hp1 NA18981.hp2 NA18985.hp1 NA18990.hp1 NA18994.hp2 NA19030.hp1 NA19058.hp1 NA19077.hp2 NA19086.hp1 NA19087.hp2 NA19240.hp2	a0002 a0008 a0010 a0002 a0008 a0010	a0002c0003 a0002c0004 a0008c0009 others(1): Show a0002c0003 a0002c0004 a0008c0009 a0010c0012	a0002c0003t0002 a0002c0003t0004 a0002c0003t0013 others(4): Show a0002c0003t0002 a0002c0003t0004 a0002c0003t0013 a0002c0004t0002 a0002c0004t0004 a0008c0009t0004 a0010c0012t0002	a0002c0003t0002g0005 a0002c0003t0002g0123 a0002c0003t0002g0124 others(65): Show a0002c0003t0002g0005 a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0242 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0003t0002g0245 a0002c0003t0002g0246 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0002g0251 a0002c0003t0002g0252 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0363 a0002c0003t0004g0172 a0002c0003t0004g0205 a0002c0003t0004g0206 a0002c0003t0004g0207 a0002c0003t0013g0219 a0002c0004t0002g0283 a0002c0004t0002g0289 a0002c0004t0002g0302 a0002c0004t0002g0306 a0002c0004t0002g0308 a0002c0004t0002g0309 a0002c0004t0002g0358 a0002c0004t0004g0282 a0002c0004t0004g0287 a0002c0004t0004g0288 a0002c0004t0004g0290 a0002c0004t0004g0291 a0002c0004t0004g0292 a0002c0004t0004g0293 a0002c0004t0004g0295 a0002c0004t0004g0296 a0002c0004t0004g0297 a0002c0004t0004g0298 a0002c0004t0004g0299 a0002c0004t0004g0300 a0002c0004t0004g0355 a0002c0004t0004g0356 a0002c0004t0004g0357 a0002c0004t0004g0360 a0002c0004t0004g0361 a0002c0004t0004g0362 a0008c0009t0004g0294 a0010c0012t0002g0227	68	364	0.1868	-546	c.169 others(19): Show c.1699-3265_1699-2720del	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP6R2_chr22_50338327_50450090	50434294	GCTGGGCA others(538): Show GCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCC GGGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAACC TGGAGGAGGGCCGGGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCTC TGGAGGTGAACCTGGAGGAGGGCCGGGGGATGGATGCTGGGCAGGGGCCG GGCATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCGCGGACGCT GGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGG GGCATGGATGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGAGGGCCGGG GGCATGGATGCTGGGCAGGGGCCGGGCACTTGCCCTGGAGGTGAACCTGG AGGAGGGCCGGGTGCGCGGACACTGGGCAGGGGCCGGGCACTTGCCCTGG AGGTGAACCTGGAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGGCCGGG CATTTGCTCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCGCGGACA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02055.hp1 HG02486.hp1 others(18): Show HG01361.hp1 HG02055.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0001c0018 a0010c0033 a0001c0002 a0001c0018 a0010c0033	a0001c0002t0004 a0001c0002t0009 a0001c0002t0015 others(2): Show a0001c0002t0004 a0001c0002t0009 a0001c0002t0015 a0001c0018t0004 a0010c0033t0015	a0001c0002t0004g0282 a0001c0002t0004g0322 a0001c0002t0004g0323 others(18): Show a0001c0002t0004g0282 a0001c0002t0004g0322 a0001c0002t0004g0323 a0001c0002t0004g0324 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0328 a0001c0002t0004g0330 a0001c0002t0004g0331 a0001c0002t0004g0332 a0001c0002t0004g0333 a0001c0002t0004g0334 a0001c0002t0009g0086 a0001c0002t0009g0087 a0001c0002t0009g0125 a0001c0002t0015g0296 a0001c0002t0015g0321 a0001c0002t0015g0335 a0001c0002t0015g0337 a0001c0018t0004g0327 a0010c0033t0015g0336	21	340	0.0618	-545	c.140 others(17): Show c.1401-653_1401-109del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
SARDH_chr9_133658560_133743352	133668406	CCCTCCCT others(538): Show CCCTCCCTCTCCCTCTCCCTTCACCCTCCCTCTCCCTTACCCTCCCTCTC CCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTC CCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCC TCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCT CTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCC TCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTC ACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCAC CCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCAC CCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACC CTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCA	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	262	0.0038	-545	c.249 others(19): Show c.2495+1633_2496-1537del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668416	CCCTCTCC others(538): Show CCCTCTCCCTTCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCTC CCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCA CCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTAC CCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCC TCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCT CACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTC TCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTC CCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCATCTC CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCT CTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	262	0.0038	-545	c.249 others(19): Show c.2495+1623_2496-1547del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SDHA_chr5_213320_262082	261361	GAGCATTA others(538): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTC CCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGT GTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGG CAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGA GCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGA GCATTACCGTGTGAGCTCCGCCCTCCCGTCAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18949.hp2 NA18994.hp2 others(1): Show NA18943.hp1 NA18949.hp2 NA18994.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0025 a0001c0002t0001g0027	4	266	0.0150	-545	c.49 others(11): Show c.4942_*5486del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4280		chr5	TogoVar
TPCN2_chr11_69043932_69095597	69068821	ACCGTCTG others(538): Show ACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGT CCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTG ACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTTACCGCACTGGG AGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGT CTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAG GAAGTGACCACAGGGGGAGCAGGACTATCTGAGTCCTAGGAAGTGACCGC AGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAG GACTGTCTGAGTCCTAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGT CCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTG ACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGG AGCAGGACCATCTGAGTCCTAGGAAGTTACCGCAGTGGGAGCAGGG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0022 a0022	a0022c0028 a0022c0028	a0022c0028t0040 a0022c0028t0040	a0022c0028t0040g0242 a0022c0028t0040g0242	1	404	0.0025	-545	c.829 others(17): Show c.829+1244_830-1037del	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069097	ATCTGAGT others(538): Show ATCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCT AGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGCAAGTGACA CAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCA GGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGA GTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCATCTGAGTCCTAGGAAG TTACCGCAGTGGGAGCAGGGCCGTCTGAGTCCTAGGAAGTGACCGCAGTG GGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACC GTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCT AGGAAGTTACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACC GCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGC AGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0016 a0011c0017t0016	a0011c0017t0016g0285 a0011c0017t0016g0285	1	404	0.0025	-545	c.830 others(16): Show c.830-1295_830-751del	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
ABCC5_chr3_183914934_184022884	183955624	TGTTACAT others(537): Show TGTTACATGCAGATCCGTGTGTATATCACATCGGTTACATGCAGATCTGT GTATATATCACATCGGTTACATGCAGATCCGTGTGTAAATCACATCAGTT ACATGCAGATCCATGTGTAAATCACATCAGTTACATGCAGATCTGTGTGT ATATTACATCTGTTACATGCAGATCCATGTGTATATCACATCAGTTACAT GCAGCTCCGTGTGTATATCACATCGGTTACATGCAGATCCGTGTGTATAT TACATCTGTTATATGCAGATCCATGTGTATATCACATCAGTTATATGCAG CTCCGTCTGTTTATCACATCGGTTACAGGCAGATCCGTGTGTATATCACA TCGGTTACATGCAGCTCCATGTGTATATCACATCGGTTACATGTTCATCC ATGTGTATATCACATCAGTTACATGCAGATCCGTGTGTATATCACATCGG TTACATGCAGATCCGTGTGTATATCACATCTGTTACATGCAGCTCCGTGT GTATATCACATCGGTTACATGCAGATCCGTGTGTAAATCACATCG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02615.hp2 HG02809.hp1 others(3): Show HG01358.hp2 HG02615.hp2 HG02809.hp1 HG02886.hp2 HG03453.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0012 a0001c0002t0001 a0001c0002t0009 a0001c0002t0012	a0001c0002t0001g0131 a0001c0002t0009g0266 a0001c0002t0009g0267 others(3): Show a0001c0002t0001g0131 a0001c0002t0009g0266 a0001c0002t0009g0267 a0001c0002t0009g0268 a0001c0002t0012g0269 a0001c0002t0012g0270	6	378	0.0159	-544	c.248 others(19): Show c.2483-2898_2483-2355del	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29			chr3	TogoVar
CEP72_chr5_607340_658553	631646	CCCAGTCC others(537): Show CCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTAGACCAGTCCTGG TGGGGTTCTGTCCAGTGCTGGATTTGACCCAGTCCTGGTGGGGTGCTGTC CAGTGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGA TTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTAGACCAGT CCTGGTGGGGTTCTGTCCAGTGCTGGATTTGACCCAGTCCTGGTGGGGTT CTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGC CGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGC CCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGGATTTGACCCAGTCCTAGT GGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTC CAGTGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGA TTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0023 a0003c0003t0002g0023	1	91	0.0110	-544	c.513 others(17): Show c.513-2095_513-1552del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(537): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA19012.hp2 HG02027.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0221 a0001c0001t0001g0231	2	350	0.0057	-544	c.26 others(11): Show c.2620_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
PCMT1_chr6_149744741_149816419	149762540	ATATCTAT others(537): Show ATATCTATGATATATATATATCTATGATATATATATCTATGATATATATA TCTATGATATATATATCTATGATATATATATATCTATGATATATATATAT CTATGATATATATATGATATATATATCTATGATATATATATATCTATGAT ATATATATATCTATGATATATATATCTATGATATATATATCTATGATATA TATATATCTATGATATATATACCTATGATATATATATACCTATGATATAT ATACCTATGATATATATATCTATGATAATCTATGATATATATGATATATA TATCTATGATATATATCTATGATATATATATCTATGATATATATGTTATA TATATCTATGATATATATCTATGATATATATATCTATGATATATATGATA TATATATCTATGATATGTATATCTATGATATATATGATATATATATCTAT GATATATATGATATATATATCTATGATATATATGATATATCTATGATATC TATGATATGTATATCTATGATATATATATCTATGATATGTATATC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	334	0.0030	-544	c.56- others(15): Show c.56-8618_56-8075del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R2D_chr10_131896008_131964834	131916773	TAGGGACC others(537): Show TAGGGACCTCACGCAGGTGGAATGACACAGTGTTTGTAGGGACCTCAGTC GGGTGGAATGACAGTGTTTGTAGGGACCTCAGGCGGGTGGAATGACAGTG TTTGTAGGGACCTCACGCAGGTGGAATGACACAACGTTTGTAGGGACCTC AGGCGGGTGGAATGACACAGCGTTTGTAGGGACCTCAGGTGGGTGGAATG ACACAGTGTAGGGACCTCAGGTGGGTGGAATGACACAGTGTAGGGACCTC ACGTGGGTGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACAC AGTGTTTGTAGGGACCTCACACGGGTGGAATGACACAGTGTTTGCAGGGA CCTCACGTGGGTGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATG ACACAGCGTTTGTAGGGACCTCAGGTGGGTGGAATGACACAGTGTAGGGA CCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCAGGCGGGTGG AATGACACAGTGTTTGTAGGGACCTCAGGCAGGTGGAATGACACA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp1 others(84): Show HG00408.hp1 HG00544.hp2 HG00597.hp1 HG01192.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02683.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(40): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0005t0018 a0003c0004t0113	a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 others(82): Show a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0136 a0001c0001t0003g0164 a0001c0001t0006g0047 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0011g0073 a0001c0001t0011g0077 a0001c0001t0011g0078 a0001c0001t0011g0080 a0001c0001t0011g0192 a0001c0001t0016g0022 a0001c0001t0016g0123 a0001c0001t0016g0125 a0001c0001t0017g0001 a0001c0001t0017g0013 a0001c0001t0017g0133 a0001c0001t0017g0257 a0001c0001t0018g0054 a0001c0001t0018g0055 a0001c0001t0020g0014 a0001c0001t0020g0111 a0001c0001t0020g0189 a0001c0001t0027g0120 a0001c0001t0027g0129 a0001c0001t0033g0090 a0001c0001t0033g0134 a0001c0001t0035g0014 a0001c0001t0035g0112 a0001c0001t0036g0048 a0001c0001t0037g0099 a0001c0001t0038g0121 a0001c0001t0039g0097 a0001c0001t0065g0092 a0001c0001t0066g0172 a0001c0001t0067g0167 a0001c0001t0084g0098 a0001c0001t0085g0105 a0001c0001t0086g0122 a0001c0001t0089g0086 a0001c0001t0090g0106 a0001c0001t0091g0166 a0001c0001t0092g0053 a0001c0001t0093g0165 a0001c0001t0095g0114 a0001c0001t0096g0056 a0001c0001t0097g0001 a0001c0001t0098g0096 a0001c0001t0100g0101 a0001c0001t0101g0126 a0001c0001t0103g0108 a0001c0001t0104g0001 a0001c0001t0105g0013 a0001c0001t0106g0087 a0001c0001t0107g0079 a0001c0001t0109g0169 a0001c0001t0110g0100 a0001c0001t0111g0001 a0001c0001t0112g0124 a0001c0005t0018g0255 a0003c0004t0113g0103	87	394	0.2208	-544	c.100 others(19): Show c.100+15444_100+15987del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8			chr10	TogoVar
SLC2A14_chr12_7807514_7877915	7828983	AAGGCTGA others(537): Show AAGGCTGAGGCAGGTGGATCAGGAGTTGAAGACCAGCCTGGCCAAGATGG TGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGTG GGCACCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGAGAATTACTTGA ACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCCCTCCA GACTGGGCGACAGAGTGAGACTCCGTCTCAGAAACAAAACAAAACAAAAG TTCAGAAAATCATACATTATTTTACCATTGAAAAAAATTTAAAAATTGCC GGGCACAGTGGCTCACACCTATAACCCAGAATTTTGGGAGGCCGAGGCGG GTGGATCACCTGAGGTCAGGAGTTTGAGAAAAGCCTGGCCAACATGGTGA AATCCTGTCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGTGCAC ACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTTAAC CCAGGAGGCAGAGGTTGGGCCGAGATCATTCCACTGCACTCCAGC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0273 a0001c0006t0016g0273	1	350	0.0029	-544	c.513 others(15): Show c.513+239_514-118del	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	5/10			chr12	TogoVar
SMOC2_chr6_168436184_168672992	168615002	GGCCTCTT others(537): Show GGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCACATCTACAGCCA GCACAGGGCCTCTTCATACTTACAGCCGGCACAGGGCCTCTTCACACCTA CAGCCAGCACAGGGGGCCTCTTTACATCTACAGCCAGCACAGGGGGCCTC TTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAG GGCCTCTTTATACCTACAGCCAGCACGGGGCCTCTTCACACCTACAGCCA GCACGGGGCCTTTTCACACCTACAGCCAGCATGGGGCCTCTTCACACCTA CAGCCAGCACGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCA CACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGG CCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCA GCACAGGGCCTCTTCACACCTACAGCCAGCACACGGCCTCTTCACACCTA CAGCCAGCACAGGGTCTCTTCATCTTCATACTTACAGCCGGCACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00558.hp2 others(30): Show HG00099.hp2 HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00741.hp1 HG01243.hp2 HG01516.hp1 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02559.hp1 HG02602.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp1 HG03492.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18963.hp1 NA19000.hp1 NA19091.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0003t0001 a0001c0004t0005 a0001c0013t0002	a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0108 others(30): Show a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0149 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0021 a0001c0002t0002g0029 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0066 a0001c0003t0001g0155 a0001c0004t0005g0048 a0001c0013t0002g0033	33	180	0.1833	-544	c.907 others(17): Show c.907+6765_907+7308del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMPRSS2_chr21_41459305_41513158	41474527	GGGGGTGA others(537): Show GGGGGTGAGTGAGGAGGTGAGGGGATGAGTGAGGGGGTGAGGGGGTGAGG GGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGGGGCGAGGGGGTGAGGGGT GAGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGGGGGCGAGGGGGTGAG TGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGATG AGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAAGGG GTGAGTGAGGGGGTGAGTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGAGG GGGTGGGTGAGGGGTGGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAG TGAGGGGATGAGGGAGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTG GTGAGTGAGGGGGTGAGGGGTGAGTGAGGGGGGTGAGGGGTAAGGAGGTG AGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGGGTGAGGGGGTGAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG00609.hp2 HG00673.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0003 a0002c0007t0003 a0002c0006t0003 a0002c0007t0003	a0002c0006t0003g0274 a0002c0007t0003g0076 a0002c0006t0003g0274 a0002c0007t0003g0076	2	382	0.0052	-544	c.727 others(17): Show c.727+1506_728-1032del	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
USP40_chr2_233470526_233571782	233567456	CTATATAA others(537): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAA GATTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAA CCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG02922.hp1 HG02976.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0014 a0002c0015t0014	a0002c0015t0014g0134 a0002c0015t0014g0135 a0002c0015t0014g0134 a0002c0015t0014g0135	2	324	0.0062	-544	c.-13 others(10): Show c.-1336_-793del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		675		chr2	TogoVar
ADARB2_chr10_1172313_1742525	1235693	CCTCCCGG others(536): Show CCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGG TGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCC ACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACTG CTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTGC CAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGC CTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAA GGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAA CGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCC CAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCT GTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCT GAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02683.hp1 HG02602.hp2 HG02683.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0004 a0001c0001t0009 a0002c0002t0004	a0001c0001t0009g0055 a0002c0002t0004g0101 a0001c0001t0009g0055 a0002c0002t0004g0101	2	106	0.0189	-543	c.136 others(19): Show c.1362-2391_1362-1849del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1887549	AGTTGGGT others(536): Show AGTTGGGTGAGGAGTCTGTGAGGAGACTGAGTGAGGTGAGGGGTCTGTGA GAAGTCCCTGAGCAGGTGAGGGTTGTGAGGAGACTGTGAGTGAGCTGAGA GTCTGTGAGGAGACACTGAGTGCAATGTGAGGGGTCTGTGAGGAGACAGT GAGTGGGATGAGGGTTTGTGAGAAGACGCTAGATGGGATGAGGGTTTTGA GGAGACACGGAGTGGGGTGAGGGTTGTGATGAGACAGTGAGTGGAGTAAG GGTTGTGGGGAGATGCTGAGGAGAGGTGAAAGTTCTGAGGAGACACTGAG TGGGATGTGAGGGGTCTGTGGGGAGTCACCAAGTGCCGTGAGAGTTGCAA GGAAACACGGAGTGGGGTGCGGGTCATCAGGAGACAGTGATTGGGGTGAG GGGTCTGTGATGAGACACTGTGAGTGGGGTGAGAGTTGTGAAGAGACAGT GAGTGGGGTGAGCTTTGTTAGGAGGCACTGAGTAGGGTGAGGGTTGTTAG GAGACAGTGAGTGGGATGAGGGTTTATGAGGAGACACTAGGTAG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03831.hp1 HG04228.hp2 HG03669.hp1 HG03831.hp1 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0009 a0001c0018 a0003c0051 a0001c0009 a0001c0018 a0003c0051	a0001c0009t0069 a0001c0018t0028 a0003c0051t0006 a0001c0009t0069 a0001c0018t0028 a0003c0051t0006	a0001c0009t0069g0302 a0001c0018t0028g0146 a0003c0051t0006g0319 a0001c0009t0069g0302 a0001c0018t0028g0146 a0003c0051t0006g0319	3	363	0.0083	-543	c.118 others(19): Show c.1182+1844_1182+2386del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLIP1_chr12_122266469_122427669	122376548	GCTCCGCC others(536): Show GCTCCGCCTCCTGGGTTCAGGCCATTCTCTTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTTTTGTATTT TTTTAGTAGAGATGGGGTTTCACCGCATTAGCCAGGATGGTCTTGATCTC CTGACCTCGTGATCCACCCACCTGGGACTCCCAAAGTGCTGGGATTACAG GCATGAGCCACGGCACCTGGCCAAGAAAATTTTTAATAATAAAAGTAAAT ATTTAGAAATTATAAACTCAATATTCTTTTAGCTAAACTGCTAGATACAA CTAGAATAGTTCACTGCTCTTTCTAGACACAAACTGCACAGCCAGTTTCT AATTTGTTGCGTAGTTACCCATAAACTGAACTGATTAATTTCTCTATAAA AGAGTGGTCATCCCTCCAGAACAGACTCTGAGCCAAGGAGTATCCTATGT GTGTATTTCTGGCATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTCT CGCCCAGGCTGGAGTGTAGTGGCGCAATCTCGGCTCACTGCAAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0216 a0001c0001t0006g0216	1	234	0.0043	-543	c.657 others(15): Show c.657+298_657+840del	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	3/25			chr12	TogoVar
GGCT_chr7_30491621_30509829	30506799	CGGTGAGT others(536): Show CGGTGAGTGTTACGGCTCTTAAAGGCGGTGCATCTGGAGTTGTTCATTCC TTCTGGTGGGTTTGTGGTCTTGCTGACTTCAGGAATGAAGCTGCAGACCT TCATGGTGAGTGTTACAGTTCATAAAGGTGGCTCGTCCAGAGTTGTTCAT TCCTCCCATCCGGAGTTGTTTGTTCCTCCCGTCCAGAATTGTTCGTTCCT CCTGTCTGGAGTTGTTCCTTCCTGTGGGTTCATGGTCTCGCTGGCTTCAG GAGTGAAGCTGCAGACCCTCGCGGTTGAGTGTTACGGCTCTTAAAGGCGG TGCATCTGGAGTTGTTCATTCCTTCTGGTGGGTTTGTGGTCTTGCTGACT TCAAGAGTGAAGCTGCAGACCTTCATGGTGAGTGTTACAGTTCATAAAGG TGGCACGTCCAGAGTTGTTCATTCCTCCCATCCGGAGTTGTTCGTTCCTC CCGTCCAGAATTGTTCGTTCCTCCCGTCTGGAGTTGTTCCTTCCTGTGGG TTCATGGTCTCGCTGGCTTCAGGAGTGAAGCTGCAGACCTTCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	-543	c.-26 others(11): Show c.-2633_-2091del	GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding		1971		chr7	TogoVar
NOS1AP_chr1_162064691_162375475	162260958	CCTCAAAG others(536): Show CCTCAAAGTTTCAAGCAATAATTATTTCATTAGAATTTGTTATATTCCCA AGGTGACTAATATAACAAATTAGAATTTGTTATATTCCCAAGATGACTAA TATAACAAATTAGAATTTGTTATACTCCCAAAGTGCCTTGAAAGTTAATA TTTATTTGGAGATATATATGTTCAGGTATACTTGGCAGAAACAACCAGTA AATCTCATTGGTCTGGCATCAGAGAATGAGGTTCTCCATATAAGTAAAAT TTCCAGGGAACTCAAGCTTTCCCCTCTAAGCATCAGTCCTATCTTTCAAA ATCAATAACATTTAATTACAATATTTTATAACCTTTCATGTCCCCTTGTT CTTAAACAATATCCTGATGTTACCTTCTATGGCAGCAGGGAGTTTGCAGA TTCTTAATGTGCAAACTTTTAAGAATCTTGAGATGGGAGATTACCCTGCA TTATCCAGGTGGGCTCAATCTAATCACAAGAGTCCTTATAGAAGAGAGGC AGCGGGGAGTCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp1 NA19043.hp2 HG02572.hp2 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0034 a0001c0004t0003 a0001c0004t0034	a0001c0004t0003g0130 a0001c0004t0003g0154 a0001c0004t0034g0002 a0001c0004t0003g0130 a0001c0004t0003g0154 a0001c0004t0034g0002	3	182	0.0165	-543	c.178 others(19): Show c.178-26385_178-25843del	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
SEC14L1_chr17_77135969_77222101	77215801	CGTAGGTA others(536): Show CGTAGGTAGGGCTGGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGG TTAGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAG GGCTAGTAGGTAGGGTTAGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGT AGGGTTAGGTAGGGTTCGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTA GGGTTCGTAGGTAGGGTTCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGG TAGGGCTAGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTAGTA GGTAGGGTTCGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGTTCG TAGGTAGGGTTCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCT AGTAGGTAGGGCTAGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGG TTCGTAGGTAGGGTTCGTAGGTAGGGTTAGTAGGTAGGGTTCGTAGGTAG GGCTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTAGGGTTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0195 a0001c0001t0069g0195	1	430	0.0023	-543	c.17 others(11): Show c.1791_*2333del	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	1791	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77215825	TTAGTAGG others(536): Show TTAGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGTTCGTAGGTAG GGTTCGTAGGTAGGGTTCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGT AGGGTTCGTAGGTAGGGTTCGTAGGTAGGGTTAGGTAGGGTTCGTAGGTA GGGTTAGTAGGTAGGGCTAGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGG TAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTA GGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGTTCGTAGGTAGGGTTAG TAGGTAGGGCTAGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGGCT AGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTAGGG TTCGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAG GGTTAGTAGGTAGGGTTCGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGT AGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0219 a0001c0001t0070g0219	1	430	0.0023	-543	c.18 others(11): Show c.1828_*2370del	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	1828	INFO_REALIGN_3_PRIME	chr17	TogoVar
TFRC_chr3_196044284_196087090	196085254	ATCATTTG others(536): Show ATCATTTGAGGTCAAGAGTTCGAGACCAGCCTAACCAATGTGGTGAAACC CCATCTCTACTGAAAATACGAAAATTAGCCGGGTGTGGTGGCAGGCACCT GTAATCCCAGCTACTCAGTAGGCTGAGGCAGGAGAATCGCTTGAACCCGG GAGGCAGAGGGTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGGCTGA GAGACACAGCAAGACTCCTTCTCAAAAAATAAAATGGGAATAAAAATACC TCATTCCAAAAATACCTCTTTTAGGGTCTAGAAGACCCTAAAAGCAATGA CTGGCACATCATACACTGTTGGTCAGCATGGTTGAATCAGAGTCCTCGTG GGGCGGAGTGGGGTCAGGTAGGAACGTGACGTGGAAGATGTCTGCAGACT GGGATGGATGTGGGCTCATGAAGAGGAAGGATGAAGGCATTTCAGCAGAG GAGAACCGGCCACCTGAAGGCTCTGTAGTGAGAAGGAGCCTGTGGTGTGT GTTAAAATTCCTAAGGAGATGTCTGACAGCTAATTCAGGGGAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA18906.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	384	0.0052	-543	c.-37 others(11): Show c.-3778_-3236del	TFRC	ENSG00000072274.14	transcript	ENST00000360110.9	protein_coding		3165		chr3	TogoVar

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Search Results (Total: 10000 hits)