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
AP3S2_chr15_89825599_89898994	89854580	AGCACCCC others(324): Show AGCACCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGGGGGGGTTG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02257.hp2 HG02273.hp1 others(3): Show HG01943.hp2 HG02257.hp2 HG02273.hp1 HG02630.hp2 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0294 a0001c0001t0002g0015 a0001c0001t0002g0016 others(3): Show a0001c0001t0001g0294 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0012g0295 a0001c0001t0012g0296 a0001c0001t0012g0311	6	312	0.0192	-331	c.345 others(19): Show c.345+16564_346-16859del	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
ARHGAP24_chr4_85470150_86007666	85643226	TTTTTTGT others(324): Show TTTTTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG03130.hp1 HG02055.hp2 HG02717.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0069	3	108	0.0278	-331	c.180 others(19): Show c.180+72511_180+72841del	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP24_chr4_85470150_86007666	85643232	GTGTTTTT others(324): Show GTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00735.hp2 others(27): Show HG00323.hp1 HG00423.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01168.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG02080.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02738.hp1 HG03471.hp1 HG03492.hp1 HG03654.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18968.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013 a0003c0012	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(7): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0003t0001 a0001c0003t0011 a0001c0004t0004 a0001c0005t0004 a0001c0005t0019 a0001c0013t0001 a0003c0012t0001	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 others(27): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0105 a0001c0002t0008g0052 a0001c0002t0008g0053 a0001c0003t0001g0004 a0001c0003t0001g0015 a0001c0003t0001g0020 a0001c0003t0001g0091 a0001c0003t0001g0106 a0001c0003t0011g0087 a0001c0004t0004g0035 a0001c0005t0004g0034 a0001c0005t0019g0070 a0001c0013t0001g0013 a0003c0012t0001g0027	30	108	0.2778	-331	c.180 others(19): Show c.180+72515_180+72845del	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ASAP1_chr8_130047104_130448674	130049242	CATATGGG others(324): Show CATATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGG GGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGG AGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACAT GGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAAC ACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 NA18947.hp2 NA18973.hp2 others(1): Show HG01975.hp1 NA18947.hp2 NA18973.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0030 a0001c0001t0001 a0001c0001t0010 a0001c0001t0030	a0001c0001t0001g0047 a0001c0001t0001g0241 a0001c0001t0010g0043 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0241 a0001c0001t0010g0043 a0001c0001t0030g0046	4	308	0.0130	-331	c.51 others(11): Show c.5158_*5488del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2861		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049950	TGGGGGCA others(324): Show TGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCA GAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAAT ACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACATGGGG GGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGG GAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATG GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGGGAACACGGGGGGAAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	308	0.0033	-331	c.44 others(11): Show c.4450_*4780del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2153		chr8	TogoVar
ASMT_chrX_1610059_1648081	1637768	ATCCATCC others(324): Show ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	223	0.0045	-331	c.910 others(17): Show c.910+1216_910+1546del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641218	GTCCTGTG others(324): Show GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC CATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAG GGACCATGTCCCAGTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGA GGATGTGGACACAGCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCT CCTGTGAGGTCCATCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCT CTGTGTGTGTGTTGGGGACAGTGTCCCAGTTC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	223	0.0045	-331	c.911 others(17): Show c.911-1575_911-1245del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
BAZ1A_chr14_34747731_34880360	34836084	TAAAACTT others(324): Show TAAAACTTTCTATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(212): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0003 a0001c0004 others(6): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0001c0013 a0002c0006 a0003c0014 a0005c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(12): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0003t0005 a0001c0003t0012 a0001c0004t0004 a0001c0007t0005 a0001c0012t0004 a0001c0013t0004 a0002c0006t0002 a0002c0006t0007 a0003c0014t0004 a0005c0008t0003	a0001c0002t0001g0102 a0001c0002t0001g0124 a0001c0002t0001g0125 others(212): Show a0001c0002t0001g0102 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0003g0001 a0001c0002t0003g0060 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0004g0364 a0001c0002t0004g0365 a0001c0002t0004g0366 a0001c0002t0004g0367 a0001c0002t0008g0137 a0001c0003t0005g0004 a0001c0003t0005g0005 a0001c0003t0005g0006 a0001c0003t0005g0007 a0001c0003t0005g0008 a0001c0003t0005g0009 a0001c0003t0005g0010 a0001c0003t0005g0011 a0001c0003t0005g0012 a0001c0003t0005g0013 a0001c0003t0005g0014 a0001c0003t0005g0015 a0001c0003t0005g0019 a0001c0003t0005g0020 a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0050 a0001c0003t0005g0192 a0001c0003t0005g0193 a0001c0003t0005g0194 a0001c0003t0005g0195 a0001c0003t0005g0368 a0001c0003t0005g0369 a0001c0003t0005g0370 a0001c0003t0005g0371 a0001c0003t0005g0372 a0001c0003t0005g0373 a0001c0003t0005g0374 a0001c0003t0005g0375 a0001c0003t0005g0376 a0001c0003t0005g0377 a0001c0003t0005g0378 a0001c0003t0012g0380 a0001c0004t0004g0003 a0001c0004t0004g0018 a0001c0004t0004g0030 a0001c0004t0004g0031 a0001c0004t0004g0033 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0044 a0001c0004t0004g0045 a0001c0004t0004g0150 a0001c0004t0004g0340 a0001c0004t0004g0341 a0001c0004t0004g0342 a0001c0004t0004g0343 a0001c0004t0004g0344 a0001c0004t0004g0345 a0001c0004t0004g0346 a0001c0004t0004g0347 a0001c0004t0004g0348 a0001c0004t0004g0349 a0001c0004t0004g0350 a0001c0004t0004g0351 a0001c0004t0004g0352 a0001c0004t0004g0353 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0358 a0001c0004t0004g0359 a0001c0004t0004g0360 a0001c0004t0004g0361 a0001c0004t0004g0362 a0001c0004t0004g0363 a0001c0004t0004g0379 a0001c0007t0005g0135 a0001c0012t0004g0191 a0001c0013t0004g0046 a0002c0006t0002g0051 a0002c0006t0002g0052 a0002c0006t0002g0053 a0002c0006t0002g0054 a0002c0006t0002g0055 a0002c0006t0002g0057 a0002c0006t0007g0056 a0003c0014t0004g0357 a0005c0008t0003g0178	215	380	0.5658	-331	c.393 others(18): Show c.393-10259_393-9929del	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BRSK2_chr11_1384934_1467689	1432221	TCAGCAGT others(324): Show TCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0158 a0002c0002t0002g0158	1	360	0.0028	-331	c.92- others(15): Show c.92-3796_92-3466del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C1QTNF12_chr1_1237453_1251722	1248982	TGGGCCTC others(324): Show TGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGG CTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACAC GGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCC CTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTG GGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCT GGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGG GCAGCCCTGGGAGGCTGGACCGAGGGAGGCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	328	0.0031	-331	c.-26 others(11): Show c.-2623_-2293del	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2261		chr1	TogoVar
C4BPA_chr1_207099233_207149972	207119038	GAACCTGC others(324): Show GAACCTGCAAAGATGAGCGAGTAAAGCCCACCATTGTAAACTGGAATTCA TCTTGTTCTTTCACTGCCCCTTAGCCTTCAACTTCAAAAATGGGTATGTC CTGTAGAAGTTGTCCGTCACAGTGCTAATGTACTTGGATCAGAAGCCAGG GTACATGAAGGAGGAGATCCTGCAGGAGCTGGCTCTGCTGTGGCCTGGTT GAGCCCTCTACTAACAAAGTGATAGAACAGAGAAACAACAGTGCTTGTGA ACTGCAGTCACATCCTGTGCTCTGCCCTGACCTTTCTAGCATATGGAGTA TGGCTCTACTAATTCACATCTACCGTCTTTTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(183): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18972.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0013	a0001c0001 a0001c0004 a0001c0019 others(12): Show a0001c0001 a0001c0004 a0001c0019 a0001c0020 a0002c0002 a0002c0003 a0002c0014 a0002c0016 a0003c0009 a0004c0005 a0005c0008 a0006c0007 a0010c0021 a0011c0013 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0019t0001 a0001c0020t0004 a0002c0002t0001 a0002c0003t0001 a0002c0014t0001 a0002c0016t0001 a0003c0009t0001 a0004c0005t0001 a0005c0008t0001 a0006c0007t0001 a0010c0021t0001 a0011c0013t0001 a0013c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(169): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0277 a0001c0001t0001g0291 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0004t0001g0029 a0001c0004t0001g0222 a0001c0019t0001g0112 a0001c0020t0004g0113 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0100 a0002c0002t0001g0115 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0150 a0002c0002t0001g0159 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0235 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0255 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0312 a0002c0003t0001g0014 a0002c0003t0001g0083 a0002c0003t0001g0131 a0002c0003t0001g0172 a0002c0003t0001g0184 a0002c0003t0001g0190 a0002c0003t0001g0196 a0002c0003t0001g0203 a0002c0003t0001g0216 a0002c0003t0001g0242 a0002c0003t0001g0253 a0002c0003t0001g0266 a0002c0003t0001g0311 a0002c0014t0001g0238 a0002c0016t0001g0236 a0003c0009t0001g0106 a0004c0005t0001g0025 a0004c0005t0001g0308 a0005c0008t0001g0044 a0006c0007t0001g0286 a0006c0007t0001g0287 a0006c0007t0001g0288 a0010c0021t0001g0101 a0011c0013t0001g0205 a0013c0017t0001g0108	186	342	0.5439	-331	c.428 others(17): Show c.428+3524_428+3854del	C4BPA	ENSG00000123838.11	transcript	ENST00000367070.8	protein_coding	4/11			chr1	TogoVar
CBR3_chr21_36130079_36151562	36146718	TAGCTGGG others(324): Show TAGCTGGGATTACCAGGCATCTGCCATCATGCCTGGCTAATTTTTGTAAT TTTAGTAGAGACGGTATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCC TGACCTCAGGTGATCTGCCCAACTTGGCCTCCCAAAGTTCTGGGATTTCA GGCATGAGCCACTGCACCCGGCCTTTTTTTCTCTTTCTTTTCTCTCTCTC TCTCTCTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGC TGGAGTGCAATGGCATGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGT TTGAATGATTCTCCTGCCTCAGCCTCCTGAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00280.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0085 a0002c0002t0001g0086	2	424	0.0047	-331	c.20 others(9): Show c.207_*537del	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		157		chr21	TogoVar
CEP83_chr12_94302698_94464867	94343461	AGAAATTA others(324): Show AGAAATTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCAGCC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18962.hp1 NA19072.hp1 others(1): Show HG02056.hp2 NA18962.hp1 NA19072.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0031 others(1): Show a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0007g0032	4	364	0.0110	-331	c.134 others(19): Show c.1344-8128_1344-7798del	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CLVS2_chr6_122991235_123077925	123052748	TAACTGAT others(324): Show TAACTGATGTTGGAGATAGGGAGGAGCATATTTGAGGTGGGGGAAGATTA TGAGTCCAATTTTGAACACGTTAAATTTGCAGCAGCCATTGAATATTTAA GTGGATATTTTAAGTGGAGAGTGGAAATACAGTTATGGAGTTTGAAAAAG GGGCCTGGATTCAAGACATATATTTCTAGTGCAGGGATATTATTTTAAAG CCACTGACTGAATAAAATGAACTTAAAGAAATCACCAATGAGAAAATATA GTTAAAGAAGAGAAAAAATCCAAAGACTGAGACCAGTAGTTCTCCAGTTA AAATATTAGGAAAATCAGGCCAGGCGCAGTGG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01109.hp2 others(23): Show HG00735.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG02258.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03704.hp1 HG04204.hp1 NA18972.hp2 NA18974.hp1 NA18990.hp2 NA18998.hp1 NA18999.hp2 NA19030.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0025 a0001c0001t0026 others(10): Show a0001c0001t0012 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0060 a0001c0001t0068 a0001c0001t0070 a0001c0001t0088	a0001c0001t0012g0051 a0001c0001t0012g0056 a0001c0001t0012g0058 others(22): Show a0001c0001t0012g0051 a0001c0001t0012g0056 a0001c0001t0012g0058 a0001c0001t0012g0059 a0001c0001t0012g0083 a0001c0001t0025g0260 a0001c0001t0025g0263 a0001c0001t0025g0264 a0001c0001t0026g0093 a0001c0001t0027g0166 a0001c0001t0027g0167 a0001c0001t0027g0168 a0001c0001t0028g0032 a0001c0001t0028g0033 a0001c0001t0041g0261 a0001c0001t0041g0262 a0001c0001t0042g0191 a0001c0001t0042g0284 a0001c0001t0043g0202 a0001c0001t0043g0234 a0001c0001t0044g0018 a0001c0001t0060g0247 a0001c0001t0068g0036 a0001c0001t0070g0050 a0001c0001t0088g0117	26	336	0.0774	-331	c.676 others(17): Show c.676-3057_676-2727del	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	4/5			chr6	TogoVar
COQ8A_chr1_226935294_226992544	226978604	TACACACC others(324): Show TACACACCCGCCCACCTTACACTCCACACACCCGCCCACCTCCTTACCCT CCACACACCTGCCCACCTCCTTACACACCCTCCACACACCTGCACACCTC CTTACATCTTCCACACACCCACCTCATACCTGCACACCTCCTTACACACC CACCTCACACCCGCATACCTCCGTACACACCCACCTCTCACCCGCACAGC TCCTTACACACCCTCCATGCACACACCTCCTTACACACCCACCTCATACC TGCACACCACCTTACACACCCTCCACACACCCACCAATCACCCACTGAAC ACTGCACCTCCTTACCCCTCCACACACCCACC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	412	0.0024	-331	c.730 others(17): Show c.730+1090_730+1420del	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK8_chr9_209865_470255	400235	TCACCACC others(324): Show TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACTTCC TTCACCACCACCACCATCTTCACCGTCACCACCACCTCCACCACCACCAC CTCCTCCACCACCACCACCTCCTCCACCATCACCACCTCCTTCACCATCA CCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCAGCATCTTCACCATCACCACCACCCACCTCCTTCA CCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCAGCATCTTCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0110	1	256	0.0039	-331	c.323 others(19): Show c.3234+1022_3234+1352del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERICH1_chr8_659200_736224	675267	TGAGGACA others(324): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCC TCGTGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	378	0.0027	-331	c.305 others(17): Show c.305-1551_305-1221del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FAM20A_chr17_68530116_68606367	68552654	ACCTTTAT others(324): Show ACCTTTATTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGTGCCCGGCCTAAAC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02738.hp2 HG03491.hp1 HG01070.hp2 HG02738.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0214 a0001c0001t0002g0245 a0001c0001t0002g0321 a0001c0001t0001g0214 a0001c0001t0002g0245 a0001c0001t0002g0321	3	380	0.0079	-331	c.641 others(16): Show c.641-1034_641-704del	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	3/10			chr17	TogoVar
FAM9B_chrX_9019232_9039127	9022496	GATATAAT others(324): Show GATATAATATATATTATATTATGTATAAGATATAATATATATTATATTAT GTATAAGATATAATATATATTATATTATGTATAAGATATAATATATATTA TATTATGTATAAGATATAATATATATTATATTATGTATAAGATATAATAT ATATTATATTATGTATAAGATATAATATATATTATATTATGTATAAGATA TAATATATATTATGTATAAGATATAATATATATTATGTATAAGATATAAT ATATATTATATTATGTATAAGATATAATATATATTATATTATGTATAAGA TATAATATATATTATATTATGTATAAGATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	258	0.0039	-331	c.25 others(11): Show c.2582_*2912del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1735		chrX	TogoVar
FGL1_chr8_17859389_17900524	17882952	AATATATA others(324): Show AATATATATCATATATAATATATTAAATATATAATATATATCATATGTAA TATATTAAATATATAATATATATCATATGTAATATATTAAATATATAATA TATATCATATGTAATATATTAAATATATAATATATATCATATGTAATATA TTAAATAATATATATCATATATAATATATTAAATAATATATAATATATAT CATATATAATATATTAAATAATATATAATATATATCATATATAATATATT AAATAATATATAATATATATCATATATAATATATTAAATAATATATAATA TATATCATATATAATATATTAAATAATATATC	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0033 a0003c0003t0001g0033	1	366	0.0027	-331	c.64- others(14): Show c.64-1104_64-774del	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
GABBR2_chr9_98283109_98713935	98585703	ATCTTATT others(324): Show ATCTTATTCATGCCTCTCAATATTATTAAAAGGTATAGGCTGAGTATCCC TAATTCAAAAATCTGAAATCCAAAATGCTCCAAAATCCAAAACTTTTTGA GCACAAATATGACACTCAATAAAAATGTTCACTGGAGCATTTTGGATTTT GAATATTTGGATTTGGGATGTTCAGTCTTTAAATATAATGCAGCTATTTC AAAATCTGAAAAACCCCAAAATCTGAAACATTTCTAGACCCAAGTATTTT GGATAAGGGGTACTCAACCTGTACTGTTATTTCCCTTTTACAGATAAGGA ATTTGAGGCTCAGAAATAATAACTTGCCCAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00735.hp1 others(87): Show HG00099.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01952.hp1 HG01975.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18955.hp1 NA18963.hp1 NA18967.hp2 NA18995.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0001c0015 a0001c0021 a0001c0025 a0001c0028 a0001c0029 a0002c0004 a0002c0006 a0002c0008 a0002c0009 a0002c0010 a0002c0011 a0002c0012 a0002c0014 a0002c0016 a0002c0017 a0002c0018 a0002c0019 a0002c0020 a0002c0022 a0002c0023 a0002c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(62): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0002t0001 a0001c0002t0009 a0001c0002t0021 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0003t0015 a0001c0003t0022 a0001c0003t0028 a0001c0005t0001 a0001c0005t0013 a0001c0005t0014 a0001c0013t0003 a0001c0015t0001 a0001c0015t0014 a0001c0021t0003 a0001c0025t0010 a0001c0028t0010 a0001c0029t0046 a0002c0004t0002 a0002c0004t0049 a0002c0006t0007 a0002c0008t0004 a0002c0008t0007 a0002c0008t0020 a0002c0009t0002 a0002c0009t0004 a0002c0009t0006 a0002c0009t0007 a0002c0010t0004 a0002c0011t0002 a0002c0011t0004 a0002c0012t0002 a0002c0012t0006 a0002c0014t0006 a0002c0016t0027 a0002c0016t0044 a0002c0017t0002 a0002c0018t0002 a0002c0018t0006 a0002c0019t0006 a0002c0020t0037 a0002c0022t0029 a0002c0023t0004 a0002c0026t0002	a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0138 others(87): Show a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0005g0092 a0001c0001t0008g0094 a0001c0001t0008g0107 a0001c0001t0008g0144 a0001c0001t0009g0115 a0001c0001t0011g0061 a0001c0001t0012g0069 a0001c0001t0012g0117 a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0017g0057 a0001c0001t0021g0106 a0001c0001t0025g0022 a0001c0001t0026g0011 a0001c0001t0035g0047 a0001c0001t0041g0084 a0001c0001t0042g0098 a0001c0001t0043g0077 a0001c0001t0045g0091 a0001c0001t0047g0075 a0001c0001t0048g0071 a0001c0002t0001g0127 a0001c0002t0009g0130 a0001c0002t0021g0114 a0001c0003t0001g0078 a0001c0003t0001g0087 a0001c0003t0001g0099 a0001c0003t0005g0088 a0001c0003t0005g0123 a0001c0003t0005g0141 a0001c0003t0008g0089 a0001c0003t0015g0041 a0001c0003t0022g0083 a0001c0003t0028g0058 a0001c0005t0001g0070 a0001c0005t0013g0072 a0001c0005t0013g0080 a0001c0005t0013g0081 a0001c0005t0014g0034 a0001c0005t0014g0040 a0001c0013t0003g0066 a0001c0015t0001g0076 a0001c0015t0001g0135 a0001c0015t0014g0039 a0001c0021t0003g0049 a0001c0025t0010g0012 a0001c0028t0010g0014 a0001c0029t0046g0119 a0002c0004t0002g0043 a0002c0004t0049g0074 a0002c0006t0007g0006 a0002c0006t0007g0024 a0002c0006t0007g0031 a0002c0008t0004g0086 a0002c0008t0004g0120 a0002c0008t0004g0161 a0002c0008t0007g0059 a0002c0008t0020g0085 a0002c0009t0002g0063 a0002c0009t0004g0113 a0002c0009t0006g0109 a0002c0009t0007g0035 a0002c0010t0004g0082 a0002c0011t0002g0016 a0002c0011t0004g0122 a0002c0011t0004g0125 a0002c0012t0002g0015 a0002c0012t0002g0017 a0002c0012t0006g0073 a0002c0012t0006g0079 a0002c0014t0006g0068 a0002c0016t0027g0048 a0002c0016t0044g0134 a0002c0017t0002g0019 a0002c0017t0002g0038 a0002c0018t0002g0023 a0002c0018t0006g0090 a0002c0019t0006g0067 a0002c0020t0037g0001 a0002c0022t0029g0060 a0002c0023t0004g0129 a0002c0026t0002g0013	90	164	0.5488	-331	c.322 others(17): Show c.322-7962_322-7632del	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GOLGA3_chr12_132763914_132833869	132791559	CGATGTTA others(324): Show CGATGTTACACTGAGGGCTCCAGGAAAGGACACATCTGCAGAGTTGTTAC ACTGAGGACTATAGGAGGGGAATGTGTCTGCACAGATGTTACACTGAGGG CTCCAAGAGGGGGATGCATGTGCATGAATATTACACTGAGGGCTACAGCA GGGGGACACATCTACACAGATGTTACACTGAGGGCTCCAGGAGGGGCCAC ATCTGCAGAGATGTTACACTGAGGGCTCCAGAAGGGGCCACATCTGCAGC GATGTTACACTGAGAGCTCCAGGAAAGGACACATCTGCAGAGTTGTTACA CTGAGGGCTCCAGAAGGGGACACATCTGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00738.hp1 others(29): Show HG00280.hp1 HG00438.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01517.hp2 HG02129.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG03017.hp2 HG03195.hp2 HG03490.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03942.hp2 HG04199.hp2 NA18906.hp1 NA18946.hp1 NA18989.hp1 NA18998.hp2 NA19004.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0018 others(1): Show a0001 a0002 a0018 a0021	a0001c0001 a0001c0025 a0002c0012 others(2): Show a0001c0001 a0001c0025 a0002c0012 a0018c0029 a0021c0031	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0055 a0001c0001t0059 a0001c0025t0003 a0002c0012t0011 a0018c0029t0061 a0021c0031t0006	a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0007 others(29): Show a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0032g0107 a0001c0001t0033g0108 a0001c0001t0037g0113 a0001c0001t0055g0009 a0001c0001t0059g0120 a0001c0025t0003g0106 a0002c0012t0011g0125 a0018c0029t0061g0103 a0021c0031t0006g0169	32	308	0.1039	-331	c.247 others(17): Show c.2470-597_2470-267del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GPD1L_chr3_32101620_32173709	32160266	GATGGATG others(324): Show GATGGATGGGTGCATGGGTAGATGGGTGAGTGGATGGGTGGGATGGGTGA ATGGATGGATGATGGGTGGGTGGGATGGGATGGGATGAGATGGATGGATG GATGGATGGATGGATGGATTATGGATGGGTGCATGGGTGGATGGGTGAGT GGATGGGTGGGATGGGTGAATGGATGGATGATGGGTGGGTGGGTGGGATG GGATGAGATAGATGGAGGGATGGATGATGGATGGGCGCATGGGTAGATGG GTGAGTGGATGGGTGGGATGGGTGAATGGATGGATGATGGGTGGGTGGGT GGGATGGGATGAGATAGACGGAGGGATGGATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(194): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0002c0005t0007	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(181): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0088 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0154 a0001c0001t0003g0157 a0001c0001t0003g0206 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0263 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0005g0012 a0001c0001t0005g0123 a0001c0001t0005g0134 a0001c0001t0005g0151 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0007g0211 a0001c0001t0007g0262 a0001c0001t0007g0281 a0001c0001t0007g0313 a0001c0001t0008g0018 a0001c0001t0008g0223 a0001c0001t0008g0242 a0001c0001t0008g0243 a0001c0001t0011g0054 a0001c0001t0011g0279 a0001c0001t0011g0280 a0001c0001t0011g0283 a0001c0001t0016g0307 a0001c0001t0016g0308 a0001c0001t0017g0033 a0001c0001t0017g0041 a0001c0001t0018g0217 a0001c0001t0018g0218 a0001c0001t0033g0266 a0001c0001t0034g0030 a0001c0001t0035g0066 a0001c0001t0036g0220 a0001c0002t0001g0102 a0001c0002t0001g0144 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0305 a0001c0002t0001g0323 a0001c0004t0001g0146 a0001c0007t0001g0036 a0001c0008t0001g0145 a0002c0005t0007g0282	197	360	0.5472	-331	c.959 others(15): Show c.959+609_959+939del	GPD1L	ENSG00000152642.11	transcript	ENST00000282541.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
HSD17B11_chr4_87331515_87396188	87370720	ATATTATT others(324): Show ATATTATTATTATTATTATTATTATTATTATTATTATTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGTAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp2 others(70): Show HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(18): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0013 a0001c0005t0004 a0001c0006t0005 a0001c0008t0009	a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0004g0372 others(69): Show a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0004g0372 a0001c0001t0004g0373 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0136 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0009g0343 a0001c0001t0009g0346 a0001c0001t0009g0363 a0001c0002t0001g0006 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0296 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0005g0153 a0001c0002t0009g0356 a0001c0002t0011g0150 a0001c0002t0011g0151 a0001c0002t0011g0152 a0001c0002t0012g0257 a0001c0002t0012g0262 a0001c0002t0014g0018 a0001c0003t0002g0028 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0004g0344 a0001c0003t0004g0364 a0001c0003t0004g0365 a0001c0003t0008g0291 a0001c0003t0008g0292 a0001c0003t0008g0293 a0001c0003t0008g0294 a0001c0003t0008g0295 a0001c0003t0013g0009 a0001c0005t0004g0369 a0001c0005t0004g0370 a0001c0005t0004g0374 a0001c0006t0005g0160 a0001c0008t0009g0353	73	390	0.1872	-331	c.557 others(17): Show c.557+1658_557+1988del	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	4/6			chr4	TogoVar
HSD17B14_chr19_48808018_48841491	48834966	CTGGGGGC others(324): Show CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGAC TCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCC TGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19043.hp1 HG01109.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0292 a0002c0002t0001g0347 a0002c0002t0001g0292 a0002c0002t0001g0347	2	394	0.0051	-331	c.127 others(15): Show c.127+508_128-609del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835199	CTCCTGGG others(324): Show CTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGAT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGAA AGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCCAGA GCCTGGACTCCTGGGTCTGAGGGAAGAGGGGCTGGGAGCCTGGACCCCTG GGTCTGAAGGAGGAGGGGTTGGGGACTTGGAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0027 a0002c0002t0002g0028	2	394	0.0051	-331	c.127 others(15): Show c.127+275_127+605del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
KMT2C_chr7_152129925_152441003	152385313	TAAAAATT others(324): Show TAAAAATTGAGACGTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTCCTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00673.hp2 others(71): Show HG00558.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01109.hp2 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18950.hp1 NA18965.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18985.hp1 NA18994.hp1 NA19004.hp1 NA19030.hp1 NA19043.hp1 NA19066.hp2 NA19068.hp2 NA19083.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0012 a0013 a0014	a0002c0002 a0002c0004 a0002c0005 others(15): Show a0002c0002 a0002c0004 a0002c0005 a0002c0007 a0002c0011 a0002c0022 a0002c0024 a0003c0009 a0003c0015 a0004c0008 a0005c0025 a0005c0037 a0006c0010 a0010c0016 a0011c0020 a0012c0021 a0013c0023 a0014c0026	a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 others(19): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0004t0002 a0002c0005t0001 a0002c0005t0005 a0002c0007t0002 a0002c0007t0008 a0002c0011t0002 a0002c0022t0003 a0002c0024t0002 a0003c0009t0004 a0003c0015t0004 a0004c0008t0003 a0005c0025t0001 a0005c0037t0001 a0006c0010t0001 a0010c0016t0006 a0011c0020t0002 a0012c0021t0007 a0013c0023t0011 a0014c0026t0002	a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0053 others(71): Show a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0006g0083 a0002c0002t0006g0084 a0002c0002t0007g0011 a0002c0002t0007g0012 a0002c0004t0002g0020 a0002c0004t0002g0024 a0002c0004t0002g0025 a0002c0004t0002g0026 a0002c0004t0002g0027 a0002c0004t0002g0028 a0002c0004t0002g0029 a0002c0004t0002g0058 a0002c0004t0002g0167 a0002c0005t0001g0085 a0002c0005t0001g0086 a0002c0005t0001g0087 a0002c0005t0005g0001 a0002c0005t0005g0002 a0002c0005t0005g0003 a0002c0005t0005g0005 a0002c0007t0002g0017 a0002c0007t0002g0022 a0002c0007t0002g0050 a0002c0007t0002g0051 a0002c0007t0002g0052 a0002c0007t0008g0021 a0002c0011t0002g0054 a0002c0011t0002g0077 a0002c0022t0003g0004 a0002c0024t0002g0056 a0003c0009t0004g0108 a0003c0009t0004g0109 a0003c0009t0004g0110 a0003c0015t0004g0048 a0003c0015t0004g0049 a0004c0008t0003g0006 a0004c0008t0003g0007 a0004c0008t0003g0008 a0004c0008t0003g0009 a0005c0025t0001g0016 a0005c0037t0001g0015 a0006c0010t0001g0168 a0006c0010t0001g0169 a0010c0016t0006g0171 a0010c0016t0006g0172 a0011c0020t0002g0060 a0012c0021t0007g0013 a0013c0023t0011g0057 a0014c0026t0002g0081	74	172	0.4302	-331	c.162 others(19): Show c.162-26969_162-26639del	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	1/58			chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104546937	TAAGAAAT others(324): Show TAAGAAATAGTAGCTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp1 others(40): Show HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01074.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02809.hp2 HG02897.hp1 HG02965.hp2 HG03017.hp2 HG03831.hp1 NA18612.hp2 NA18947.hp1 NA18947.hp2 NA18972.hp1 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA19043.hp1 NA19043.hp2 NA19085.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0002t0012 a0001c0003t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(40): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0002g0026 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0080 a0001c0001t0003g0029 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0070 a0001c0001t0003g0081 a0001c0001t0004g0028 a0001c0001t0004g0033 a0001c0001t0004g0040 a0001c0001t0004g0054 a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0005g0005 a0001c0001t0005g0020 a0001c0001t0006g0019 a0001c0001t0007g0004 a0001c0001t0007g0066 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0009g0002 a0001c0001t0010g0007 a0001c0001t0013g0049 a0001c0002t0012g0010 a0001c0003t0002g0065	43	86	0.5000	-331	c.446 others(21): Show c.446-189720_446-189390del	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
MACROD2_chr20_13990516_16058197	15000328	CAAGAGGT others(324): Show CAAGAGGTAGAAACGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp2 HG03209.hp1 others(3): Show HG02257.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0002c0002t0010	a0001c0001t0001g0004 a0001c0001t0003g0001 a0001c0001t0004g0008 others(3): Show a0001c0001t0001g0004 a0001c0001t0003g0001 a0001c0001t0004g0008 a0001c0001t0005g0003 a0001c0001t0011g0009 a0002c0002t0010g0007	6	24	0.2500	-331	c.419 others(21): Show c.419-229598_419-229268del	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAN1A1_chr6_119172205_119354761	119275273	GCTAATTT others(324): Show GCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01175.hp2 HG01192.hp2 others(8): Show HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01361.hp1 HG01515.hp2 HG02055.hp2 HG02976.hp1 HG03017.hp2 HG03453.hp1 HG03688.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0010 a0001c0001t0026 others(2): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002	a0001c0001t0009g0075 a0001c0001t0010g0072 a0001c0001t0010g0073 others(8): Show a0001c0001t0009g0075 a0001c0001t0010g0072 a0001c0001t0010g0073 a0001c0001t0010g0074 a0001c0001t0010g0076 a0001c0001t0010g0077 a0001c0001t0026g0101 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0002g0107 a0001c0002t0002g0108	11	350	0.0314	-331	c.897 others(19): Show c.897+15079_897+15409del	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	5/12			chr6	TogoVar
NDST4_chr4_114822763_115118620	114847085	TGTGTCTT others(324): Show TGTGTCTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG01257.hp2 others(35): Show HG00738.hp2 HG01192.hp1 HG01257.hp2 HG01975.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03704.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA21309.hp1	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0004c0015 a0004c0016 a0007c0014 a0008c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0004c0015t0001 a0004c0016t0001 a0007c0014t0001 a0008c0018t0001	a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0110 others(35): Show a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0002t0001g0031 a0001c0002t0001g0046 a0001c0002t0001g0067 a0001c0002t0001g0082 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0167 a0001c0002t0001g0181 a0001c0002t0002g0008 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0099 a0001c0003t0001g0152 a0001c0003t0001g0168 a0001c0003t0001g0184 a0001c0003t0004g0190 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0095 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0006t0001g0098 a0001c0009t0001g0096 a0004c0015t0001g0142 a0004c0016t0001g0143 a0007c0014t0001g0102 a0008c0018t0001g0107	38	190	0.2000	-331	c.194 others(18): Show c.1940+799_1941-1089del	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	9/13			chr4	TogoVar
NKD2_chr5_1003802_1043943	1022663	GCTGTGGG others(324): Show GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTAGTGGG TGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGC CCTTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTC CCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTT CCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCT CTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCTGCTGTGGGCG TCTCAGCCCGTTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	319	0.0031	-331	c.142 others(17): Show c.142-9477_142-9147del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRP2_chr19_54961374_55006138	54975227	CCTCCTGC others(324): Show CCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACTTGCCACCA TGCCTGGCTAATTTTTTTCACTTTTTGTAGAGACAGGGTCTTGCTATGTT GCCCAGGCTGGCCTCGAATTACTAAACTCAATCAGTCCTCCTGCCTCACC CTCCCAAACTGCTGGGGTACAGGTGTGAGCCATGACACCTGGCCCTTACC AGCTACTTATATCCTGAAGATTATTATTATTTTTTTTTTTTTTGAGATAG AGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCATGCCATT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(58): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG01109.hp1 HG01257.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02293.hp1 HG02647.hp2 HG02683.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19056.hp1 NA19066.hp1 NA19068.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(8): Show a0001 a0003 a0006 a0008 a0013 a0014 a0015 a0021 a0022 a0023 a0024	a0001c0002 a0001c0004 a0003c0005 others(14): Show a0001c0002 a0001c0004 a0003c0005 a0003c0006 a0003c0057 a0003c0060 a0006c0041 a0006c0052 a0008c0024 a0008c0064 a0013c0031 a0014c0030 a0015c0029 a0021c0062 a0022c0061 a0023c0059 a0024c0058	a0001c0002t0001 a0001c0004t0001 a0003c0005t0001 others(19): Show a0001c0002t0001 a0001c0004t0001 a0003c0005t0001 a0003c0005t0002 a0003c0005t0009 a0003c0005t0026 a0003c0006t0001 a0003c0006t0002 a0003c0057t0001 a0003c0060t0001 a0006c0041t0012 a0006c0052t0001 a0008c0024t0001 a0008c0064t0001 a0013c0031t0001 a0014c0030t0001 a0015c0029t0003 a0015c0029t0023 a0021c0062t0015 a0022c0061t0015 a0023c0059t0016 a0024c0058t0001	a0001c0002t0001g0036 a0001c0004t0001g0034 a0001c0004t0001g0353 others(58): Show a0001c0002t0001g0036 a0001c0004t0001g0034 a0001c0004t0001g0353 a0003c0005t0001g0035 a0003c0005t0001g0038 a0003c0005t0001g0040 a0003c0005t0001g0041 a0003c0005t0001g0044 a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0001g0053 a0003c0005t0001g0055 a0003c0005t0001g0056 a0003c0005t0001g0058 a0003c0005t0001g0060 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0064 a0003c0005t0001g0065 a0003c0005t0001g0277 a0003c0005t0001g0278 a0003c0005t0001g0281 a0003c0005t0001g0282 a0003c0005t0001g0372 a0003c0005t0002g0120 a0003c0005t0009g0043 a0003c0005t0009g0061 a0003c0005t0026g0429 a0003c0006t0001g0039 a0003c0006t0001g0045 a0003c0006t0001g0047 a0003c0006t0001g0048 a0003c0006t0001g0049 a0003c0006t0001g0050 a0003c0006t0001g0054 a0003c0006t0001g0279 a0003c0006t0001g0348 a0003c0006t0001g0373 a0003c0006t0001g0375 a0003c0006t0002g0104 a0003c0006t0002g0105 a0003c0006t0002g0106 a0003c0006t0002g0107 a0003c0057t0001g0280 a0003c0060t0001g0284 a0006c0041t0012g0177 a0006c0052t0001g0354 a0008c0024t0001g0287 a0008c0024t0001g0289 a0008c0024t0001g0290 a0008c0064t0001g0286 a0013c0031t0001g0067 a0013c0031t0001g0275 a0014c0030t0001g0042 a0014c0030t0001g0046 a0015c0029t0003g0285 a0015c0029t0023g0283 a0021c0062t0015g0376 a0022c0061t0015g0291 a0023c0059t0016g0276 a0024c0058t0001g0057	61	429	0.1422	-331	c.325 others(16): Show c.325+701_325+1031del	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NUP155_chr5_37283137_37376106	37293697	TTAAAGCA others(324): Show TTAAAGCAAATGATGATTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGA CGCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(109): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18939.hp2 NA18954.hp1 NA18968.hp2 NA18979.hp2 NA18984.hp2 NA19000.hp2 NA19001.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0004 a0001c0005 others(5): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0001c0018 a0009c0012	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(36): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0020 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0027 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0004t0011 a0001c0004t0029 a0001c0004t0052 a0001c0004t0053 a0001c0005t0009 a0001c0006t0016 a0001c0006t0036 a0001c0010t0017 a0001c0011t0028 a0001c0018t0016 a0009c0012t0008	a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 others(109): Show a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0274 a0001c0002t0002g0290 a0001c0002t0004g0004 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0005g0266 a0001c0002t0005g0267 a0001c0002t0005g0268 a0001c0002t0005g0269 a0001c0002t0005g0270 a0001c0002t0006g0272 a0001c0002t0006g0277 a0001c0002t0006g0278 a0001c0002t0006g0282 a0001c0002t0006g0283 a0001c0002t0006g0284 a0001c0002t0006g0285 a0001c0002t0006g0286 a0001c0002t0006g0287 a0001c0002t0007g0030 a0001c0002t0007g0036 a0001c0002t0007g0037 a0001c0002t0007g0038 a0001c0002t0007g0039 a0001c0002t0007g0040 a0001c0002t0007g0048 a0001c0002t0007g0049 a0001c0002t0008g0009 a0001c0002t0008g0010 a0001c0002t0008g0011 a0001c0002t0008g0014 a0001c0002t0008g0015 a0001c0002t0008g0016 a0001c0002t0008g0017 a0001c0002t0013g0066 a0001c0002t0013g0067 a0001c0002t0013g0069 a0001c0002t0013g0071 a0001c0002t0014g0072 a0001c0002t0014g0075 a0001c0002t0014g0079 a0001c0002t0014g0084 a0001c0002t0015g0012 a0001c0002t0015g0024 a0001c0002t0015g0029 a0001c0002t0016g0043 a0001c0002t0017g0041 a0001c0002t0017g0042 a0001c0002t0020g0271 a0001c0002t0020g0281 a0001c0002t0020g0289 a0001c0002t0023g0031 a0001c0002t0023g0065 a0001c0002t0024g0032 a0001c0002t0024g0033 a0001c0002t0025g0273 a0001c0002t0025g0279 a0001c0002t0027g0034 a0001c0002t0027g0045 a0001c0002t0033g0018 a0001c0002t0034g0005 a0001c0002t0035g0047 a0001c0002t0044g0070 a0001c0002t0045g0292 a0001c0002t0046g0291 a0001c0002t0047g0280 a0001c0002t0048g0288 a0001c0002t0049g0275 a0001c0002t0054g0276 a0001c0002t0055g0068 a0001c0002t0056g0008 a0001c0004t0011g0051 a0001c0004t0011g0052 a0001c0004t0011g0053 a0001c0004t0011g0055 a0001c0004t0011g0059 a0001c0004t0029g0002 a0001c0004t0052g0056 a0001c0004t0053g0265 a0001c0005t0009g0054 a0001c0005t0009g0057 a0001c0005t0009g0058 a0001c0005t0009g0061 a0001c0005t0009g0062 a0001c0005t0009g0063 a0001c0005t0009g0064 a0001c0006t0016g0044 a0001c0006t0036g0046 a0001c0010t0017g0035 a0001c0011t0028g0003 a0001c0018t0016g0050 a0009c0012t0008g0013	112	300	0.3733	-331	c.393 others(17): Show c.3930+301_3930+631del	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
PAFAH1B1_chr17_2588654_2690615	2617645	TGGTGGCT others(324): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAG ATCACTTGAGGTGAGGAGTTTGAGACCAGCACAGACAACATGGTGAAACC CCCTGTCTCTACTAAAAATGCAGCATTTAGCCAGGTGTGGCGGTGGGTGT CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCT GGGAGGTGAAGGTTGTAGGGAGGGAGTGGAGATTGCGCCATTGCACTCCA GCCTGGGCAACAGAGCGAGACTCAGTCCCGCATCAAAAAACGTCTCGGTA TTGGATTAAAAACTTGCATTTAGGCCGGGTGC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0175 a0001c0003t0010g0175	1	280	0.0036	-331	c.-19 others(21): Show c.-190-20416_-190-20086del	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PEX5_chr12_7184686_7216459	7196777	ACATATAA others(324): Show ACATATAATGTAATAATTATATATGTCACATAATGTAATAATTATATATG TCACATATAATGTAATAATTATATATGTCACATATAATGTAATAATTATA TATGTCACATATAATGTAATAATTATATATGTCACATATAATGTAATAAT TATATGTCACATATAATGTAATAATTATATGTCACATATAATGTAATAAT TATATATGTCACATATAATGTAATAATTATATATGTCACATATAATGTAA TTATATATGTCACATATAATGTAATTATATATGTCACATATAATGTAATT ATATATGTCACATATAATGTAATTATATATGT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	428	0.0023	-331	c.449 others(17): Show c.449-2217_449-1887del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA4_chr19_48832097_48873617	48834966	CTGGGGGC others(324): Show CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGAC TCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCC TGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 NA19043.hp2 HG01109.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0088 a0002c0002t0002g0067 a0002c0002t0002g0088	2	300	0.0067	-331	c.19 others(11): Show c.1992_*2322del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2130		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835199	CTCCTGGG others(324): Show CTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGAT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGAA AGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCCAGA GCCTGGACTCCTGGGTCTGAGGGAAGAGGGGCTGGGAGCCTGGACCCCTG GGTCTGAAGGAGGAGGGGTTGGGGACTTGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0005 a0011c0012t0005	a0011c0012t0005g0019 a0011c0012t0005g0020 a0011c0012t0005g0019 a0011c0012t0005g0020	2	300	0.0067	-331	c.17 others(11): Show c.1759_*2089del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		1897		chr19	TogoVar
PLPP4_chr10_120452227_120597065	120563501	TAAAAATC others(324): Show TAAAAATCTTGAATTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02896.hp1 others(1): Show HG01884.hp1 HG02572.hp1 HG02896.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0005t0001 a0001c0006t0041 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0041 a0001c0007t0007	a0001c0001t0001g0200 a0001c0005t0001g0328 a0001c0006t0041g0014 others(1): Show a0001c0001t0001g0200 a0001c0005t0001g0328 a0001c0006t0041g0014 a0001c0007t0007g0319	4	328	0.0122	-331	c.446 others(19): Show c.446-11612_446-11282del	PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRM_chr18_7562316_8411856	8372041	TCTCCACT others(324): Show TCTCCACTCTATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02630.hp2 HG02886.hp2 HG01106.hp2 HG02630.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0019 a0001c0003 a0001c0004 a0001c0019	a0001c0003t0002 a0001c0004t0001 a0001c0019t0001 a0001c0003t0002 a0001c0004t0001 a0001c0019t0001	a0001c0003t0002g0003 a0001c0004t0001g0063 a0001c0019t0001g0006 a0001c0003t0002g0003 a0001c0004t0001g0063 a0001c0019t0001g0006	3	80	0.0375	-331	c.317 others(19): Show c.3171+1052_3171+1382del	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
SCN9A_chr2_166190185_166380944	166222638	CAAACAGC others(324): Show CAAACAGCAACAAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCATGGTGGCGCACGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAA AAAACAACAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02615.hp2 others(9): Show HG01891.hp1 HG02109.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03540.hp2 HG03579.hp2	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0002 a0001c0003 a0001c0005 others(4): Show a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0004c0008 a0004c0024 a0012c0031	a0001c0002t0006 a0001c0003t0002 a0001c0003t0006 others(6): Show a0001c0002t0006 a0001c0003t0002 a0001c0003t0006 a0001c0003t0013 a0001c0005t0002 a0001c0011t0006 a0004c0008t0006 a0004c0024t0002 a0012c0031t0006	a0001c0002t0006g0269 a0001c0003t0002g0205 a0001c0003t0006g0078 others(9): Show a0001c0002t0006g0269 a0001c0003t0002g0205 a0001c0003t0006g0078 a0001c0003t0006g0274 a0001c0003t0006g0275 a0001c0003t0013g0289 a0001c0005t0002g0074 a0001c0011t0006g0194 a0004c0008t0006g0077 a0004c0024t0002g0193 a0012c0031t0006g0191 a0012c0031t0006g0192	12	296	0.0405	-331	c.439 others(19): Show c.4398+3598_4398+3928del	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	24/26			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289641	CTCTGCTC others(324): Show CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	290	0.0035	-331	c.166 others(17): Show c.1663-598_1663-268del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280988	AGTCACCC others(324): Show AGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGC TATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCC TCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTC TGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGT CACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCAC CTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTC CCTCAGCCATCCTCCTGTCACCTCCCTCTTTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18944.hp1 HG02055.hp2 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0018 a0002c0002t0013 a0002c0002t0018	a0002c0002t0013g0062 a0002c0002t0018g0011 a0002c0002t0013g0062 a0002c0002t0018g0011	2	280	0.0071	-331	c.484 others(18): Show c.484+9727_484+10057del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281076	CCTTGGCC others(324): Show CCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCT TGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAG CCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAG TCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA CCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACC CTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTT CTGTCATCTCCTCCTCAGCTATCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03688.hp1 NA18944.hp2 others(3): Show HG03669.hp2 HG03688.hp1 NA18944.hp2 NA18950.hp2 NA18998.hp1 NA19080.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0022 a0002c0002 a0003c0001 others(1): Show a0001c0022 a0002c0002 a0003c0001 a0003c0007	a0001c0022t0001 a0002c0002t0001 a0002c0002t0056 others(2): Show a0001c0022t0001 a0002c0002t0001 a0002c0002t0056 a0003c0001t0001 a0003c0007t0002	a0001c0022t0001g0254 a0002c0002t0001g0178 a0002c0002t0056g0159 others(3): Show a0001c0022t0001g0254 a0002c0002t0001g0178 a0002c0002t0056g0159 a0003c0001t0001g0064 a0003c0001t0001g0104 a0003c0007t0002g0065	6	280	0.0214	-331	c.484 others(17): Show c.484+9639_484+9969del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SLC12A7_chr5_1045384_1117063	1070658	GAGCCCCC others(324): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAGT GAGCCCCCAGCACACGGGTATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	118	0.0085	-331	c.224 others(19): Show c.2241+2644_2241+2974del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SMYD3_chr1_245744347_246512279	246276116	CGTATTAA others(324): Show CGTATTAACACTGGCAGGTTATTTAATGTCTGTAGTGGAGTCTGATGCCC ATGTTTGAATACTAACTCTGTTTTTTACTAACCGTATTAACACTGGCAAG TTATTTAATGTTTCTAGTGGAGTCTGATGCCCATGTTTGAATACTAACTC TGTTTTTTCACTAGCCGTATTAACACTGGCAAGTTATTTAATGCCTCTAG TGGAGTCTGATGCCCATGTTTGAATACTAACTCCATTTTTTCACTACCCG TATTAACACTGGCAGGTTATTTAATGTTTCTAGTGGAGTCTGATGCCCAT GTTTGAATACTAACTCTGTTTTTTCACTAGCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 HG03130.hp2 others(2): Show HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03579.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 others(1): Show a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002	a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0001g0129 others(2): Show a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0001g0129 a0002c0004t0001g0140 a0002c0004t0002g0139	5	150	0.0333	-331	c.531 others(19): Show c.531+50754_531+51084del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SRPK2_chr7_105111374_105393921	105334701	ATGGTGGC others(324): Show ATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGGGAG AATCACTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCAAAATCATGCCA CTGCACTCCAGCCTTCCAGCCTGGGATACAGACCAAAAAAAAAAAAAACA AAAAAAAAATTAATTAACTTAAAGAACACTACTTATTGGCTGGGCGCAGT AGCTTATGCCTGTAATCCCAGACTTTGGGAGGCCAAGGCGGGCAGATCAC TTGAGGTCAGGAGTTCGATATCAGTCTGGCCAACACGGTGAAACCCCGTC TCTACTACAAATACAAAAAAATTAGCCAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02897.hp1 others(4): Show HG02615.hp1 HG02723.hp2 HG02897.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224	7	282	0.0248	-331	c.71+ others(17): Show c.71+53616_71+53946del	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
STK38L_chr12_27239286_27330959	27281054	TGGCTTTA others(324): Show TGGCTTTAGCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCGCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19072.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0031 others(264): Show a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0340 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0169 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0143 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0229 a0001c0001t0003g0335 a0001c0001t0004g0002 a0001c0001t0004g0013 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0076 a0001c0001t0004g0175 a0001c0001t0004g0247 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0309 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0336 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0005g0011 a0001c0001t0005g0125 a0001c0001t0005g0328 a0001c0001t0005g0329 a0001c0001t0005g0339 a0001c0001t0006g0005 a0001c0001t0006g0010 a0001c0001t0006g0040 a0001c0001t0006g0050 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0114 a0001c0001t0006g0124 a0001c0001t0006g0170 a0001c0001t0006g0232 a0001c0001t0008g0128 a0001c0001t0008g0280 a0001c0001t0008g0331 a0001c0001t0009g0291 a0001c0001t0009g0293 a0001c0001t0010g0225 a0001c0001t0010g0332 a0001c0001t0012g0295 a0001c0001t0012g0352 a0001c0001t0013g0070 a0001c0001t0014g0108 a0001c0001t0015g0041 a0001c0001t0016g0048 a0001c0001t0017g0276 a0001c0001t0018g0100 a0001c0002t0001g0312 a0001c0002t0005g0004 a0001c0002t0005g0337 a0001c0002t0005g0338 a0001c0002t0005g0350 a0001c0002t0005g0351 a0001c0002t0005g0353 a0001c0002t0005g0354 a0001c0002t0005g0355 a0001c0002t0005g0356 a0001c0002t0005g0357	281	374	0.7513	-331	c.-11 others(19): Show c.-11-16639_-11-16309del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SUPT20HL2_chrX_24303210_24319069	24313567	AGAAGTGA others(324): Show AGAAGTGAGCGGGAGGGCCGGGGTCAGCTTCTAGGCGCGTCTGGGCACCT GCCCAGAAACCTGCCCCCAGGGAAGCGCTACCCAATCTGTTTGAGGGTTT CTGAAAACATCGGTACCTGAGGGGTCGTCGTCGTGGCCCGGGCTTCACGT CTCTGCGGCCTGGAACAGAAGTGAGCGGGAGGGCCGTGGTCAGCTTCTAG GCGCGTCTGGGCACCTGCCCAGAAACCTGCCCCCAGGGAAGCGCTACCCA ATCTGTTTGAGGGTTTCTGAAAACATCGGTACCTGAGGGGTCGTCGTCGT GGTCGGACTTCGCGTCTCTGCGGCCTGGAACG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0071 a0004c0005t0071	a0004c0005t0071g0000 a0004c0005t0071g0000	1	293	0.0034	-331	c.-58 others(9): Show c.-583_-253del	SUPT20HL2	ENSG00000223611.7	transcript	ENST00000486479.3	protein_coding	1/1	253		chrX	TogoVar
SYT9_chr11_7246904_7474043	7407348	TTTAAGTC others(324): Show TTTAAGTCTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG00642.hp1 others(97): Show HG00558.hp2 HG00639.hp2 HG00642.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18952.hp1 NA18952.hp2 NA18969.hp2 NA18973.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18995.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19076.hp2 NA19082.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 a0001c0006t0002 a0001c0006t0007 a0001c0009t0001 a0001c0009t0003 a0001c0010t0007 a0002c0004t0005 a0002c0004t0021 a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0005t0006 a0003c0005t0007	a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0054 others(97): Show a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0132 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0221 a0001c0001t0001g0257 a0001c0001t0001g0271 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0088 a0001c0001t0002g0105 a0001c0001t0002g0115 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0188 a0001c0001t0002g0231 a0001c0001t0003g0007 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0101 a0001c0001t0003g0161 a0001c0001t0003g0167 a0001c0001t0003g0178 a0001c0001t0003g0184 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0004g0011 a0001c0001t0004g0018 a0001c0001t0004g0039 a0001c0001t0004g0043 a0001c0001t0004g0057 a0001c0001t0004g0071 a0001c0001t0004g0116 a0001c0001t0004g0129 a0001c0001t0004g0234 a0001c0001t0004g0248 a0001c0001t0005g0002 a0001c0001t0005g0017 a0001c0001t0006g0087 a0001c0001t0006g0140 a0001c0001t0006g0146 a0001c0001t0006g0177 a0001c0001t0006g0187 a0001c0001t0006g0191 a0001c0001t0006g0235 a0001c0001t0006g0254 a0001c0001t0007g0145 a0001c0001t0009g0058 a0001c0001t0010g0144 a0001c0001t0013g0141 a0001c0001t0014g0179 a0001c0001t0019g0176 a0001c0001t0020g0182 a0001c0002t0001g0051 a0001c0002t0001g0061 a0001c0002t0001g0128 a0001c0002t0002g0062 a0001c0002t0003g0228 a0001c0002t0004g0004 a0001c0002t0005g0064 a0001c0002t0005g0120 a0001c0002t0006g0181 a0001c0002t0009g0060 a0001c0003t0002g0012 a0001c0003t0003g0069 a0001c0003t0003g0232 a0001c0003t0004g0014 a0001c0003t0005g0016 a0001c0003t0005g0091 a0001c0003t0010g0190 a0001c0006t0002g0005 a0001c0006t0002g0200 a0001c0006t0007g0202 a0001c0009t0001g0199 a0001c0009t0003g0201 a0001c0010t0007g0175 a0002c0004t0005g0036 a0002c0004t0005g0135 a0002c0004t0021g0037 a0003c0005t0001g0262 a0003c0005t0002g0056 a0003c0005t0003g0073 a0003c0005t0006g0099 a0003c0005t0006g0258 a0003c0005t0007g0189	100	272	0.3677	-331	c.104 others(19): Show c.1045-8678_1045-8348del	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar

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