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
ASMT_chrX_1610059_1648081	1611660	TGGATCAC others(395): Show TGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCTAACACGGTGAAAC CCTGTCTCTACTGAAAATACAAAAAATTAGCTGGCTGTGGTGGCTGGTGC CTGTAGTTCCAGCTACTCTGGAGGCTGAGGCAGGAGAATGACACGAACCC GGGAGGCGGAGCTTGCAGTGAGCTGAGATCGAGCCACTGCACTCCAGCCT GGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTACCCAA AATTACCCAGTCTCAGGTATGTCTTATCAGCAGCATGAAAATGGACTAAT ATGCTTGTCAGTCACGTGTGTGTCTTTTTTTGGAGAAGTGTCTGTTGGCC GGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCG GGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01891.hp1 HG02280.hp2 others(5): Show HG00741.hp2 HG01891.hp1 HG02280.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0002g0184 a0002c0002t0001g0009 a0002c0002t0001g0069	8	223	0.0359	-402	c.-35 others(11): Show c.-3539_-3138del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		3398		chrX	TogoVar
ATP10B_chr5_160558120_160857211	160652394	CAGAGAAC others(395): Show CAGAGAACTGCTGAGCCTTACAAACCTGTCAGGGTTCTTATTTATTTATT TATTTATTTATTTATTTATTTATTTATTTATTCGAGACAGGGTCTCACTC TGTCACCCAGGCTGCAGTGCAGTGGTGCGATCACAGCTCACTGTAGCCTC GACTTCCCGGGTTCAAACAATCTTCCCACCTCAGCCTCCTGAGTAGCTGG GACTACAGGCGTGCACCACCAGACCTGACGAATTTTATATTTTATAAAAT AAAATTATATATGTATATATTATATATACATATATAAATACATATGTATA AATAATATATACATATATAATTTATATATAATATATACATATATTTATGT ACTATACATGTACATATTATATACATAAATATAAATATATATAAAAATAT ATA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 NA19004.hp2 others(4): Show HG02647.hp1 HG02647.hp2 NA19004.hp2 NA19007.hp1 NA19060.hp1 NA19083.hp1 NA20752.hp1	a0001 a0010 a0022 a0001 a0010 a0022	a0001c0001 a0001c0002 a0010c0014 others(1): Show a0001c0001 a0001c0002 a0010c0014 a0022c0032	a0001c0001t0008 a0001c0002t0007 a0001c0002t0011 others(2): Show a0001c0001t0008 a0001c0002t0007 a0001c0002t0011 a0010c0014t0028 a0022c0032t0011	a0001c0001t0008g0173 a0001c0002t0007g0131 a0001c0002t0007g0167 others(4): Show a0001c0001t0008g0173 a0001c0002t0007g0131 a0001c0002t0007g0167 a0001c0002t0007g0223 a0001c0002t0011g0084 a0010c0014t0028g0141 a0022c0032t0011g0036	7	236	0.0297	-402	c.676 others(17): Show c.676-3540_676-3139del	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
B3GALT1_chr2_167288001_167879045	167664003	TGCTTTTG others(395): Show TGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAA TGGTAATGCCTAGGTTTTCTTGTAGGGTTTTTATGGTTTTAGGTCTAACG TTTAAGTCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAA GGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCAAGCACC ATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTG TCAAAGATCAGATAGTTGTAGATGTGTGGCGTTATTTCTGAGGGCTCTGT TCTGTTCCATTGATCTCTATCTCTGTTTTGGTACCAGTACCATGCTGTTT TGGTTACTGTAGCTTTGTAGTATAGTTTGAAGTCAGGTAGCATGATGCCT CCA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03579.hp1 NA20300.hp2 HG02647.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0005g0024 a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0005g0024	3	118	0.0254	-402	c.-35 others(21): Show c.-352+17043_-352+17444del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	83025157	AGACACCG others(395): Show AGACACCGCGGAGTCCACACACGGACACCGCGGAGAGTCCACACACACAT AGAAACTGTGAAGTCCACACACACACGGACACCGCGGAGTCCACACACGG ACACCGCGGAGAGTCCACACACACATAGAAACTGTGAAGTCCACACACAC ACGGACACCGCGGAGTCCACACACGGACACCGCGGAGAGTCCACACACAC ATAGAAACTGTGAAGTCCACACACACACGGACACCGCGGAGTCCACACAC GGACACCGCGGAGAGTCCACACACACATAGAAACTGTGAAGTCCACACAC ACACGGACACCGCGGAGTCCACACACGGACACCGCGGAGAGTCCACACAC ACATAGAAACTGTGAAGTCCACACACACACGGACACCGCGGAGTCCACAC ACG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(34): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG02132.hp1 HG02155.hp1 HG02572.hp1 HG02683.hp1 HG02896.hp2 HG03225.hp1 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0016 others(3): Show a0001c0004 a0001c0006 a0001c0016 a0002c0005 a0002c0015 a0002c0022	a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 others(14): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0010 a0001c0006t0011 a0001c0006t0023 a0001c0006t0033 a0001c0016t0001 a0002c0005t0003 a0002c0015t0003 a0002c0022t0003	a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 others(33): Show a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0010g0034 a0001c0004t0026g0046 a0001c0004t0031g0035 a0001c0006t0001g0022 a0001c0006t0002g0031 a0001c0006t0002g0040 a0001c0006t0006g0006 a0001c0006t0006g0038 a0001c0006t0006g0047 a0001c0006t0008g0020 a0001c0006t0010g0010 a0001c0006t0011g0018 a0001c0006t0011g0027 a0001c0006t0023g0030 a0001c0006t0033g0044 a0001c0016t0001g0008 a0001c0016t0001g0009 a0002c0005t0003g0175 a0002c0015t0003g0023 a0002c0015t0003g0043 a0002c0022t0003g0029	37	266	0.1391	-402	c.297 others(17): Show c.297+9476_297+9877del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
CNTNAP2_chr7_146111801_148425998	146527484	CTCAATGT others(395): Show CTCAATGTCATATGTCTGGAATTTATCTTTACACAGATGGTATTTGTAAG GGTATATATAGACCAAAAATAAGGTGAGCTTGGAAATTGATGATTTCACA TTAATTTTCTGCATGTCACATTTGAGGAATGGATTTTACTTTAAGAATAA ATAATCTCTTGACAGCCTATGCATCAGAATCCATGTAGGAAATAGTGAAT TAGTCATAGTTCAAAGTTGATCATCTATTTATTTGGATGTTAATATTAAA TCATAAAAATACAATATTCGACAAGTGGATAATGTTATTGCTGGGATGCT TGAACAAAATGTTCAATTATTTTAAATGTTATCAAATCATTTAAAATTGA AATTTGGAAGTTTTATTTCCACAGGAGTAAAACTGAATCATTTAATGTGA CAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19030.hp1 HG02922.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0001t0001g0038 a0001c0001t0012g0034	2	40	0.0500	-402	c.98- others(19): Show c.98-246785_98-246384del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
FMN2_chr1_240086883_240480187	240477881	GTTGCAGT others(395): Show GTTGCAGTGAGCCGAGATCGTGCCATTGCACTACAGCCTGGGTGACTGAG CGAGACTCCGTCTCAAATCAAACAAACAAACAAAACGACAGAAAGAAAGG ACACGTCACTTAAAATGAAACGGCAGTTATTCTGAAAGTAGATTTGTCCT CAGCCACAATGTATGTTAGAAAATAGTAACGTCTTGGCTGGGCCCGGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACG AGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCT ACTAAAAATACAAAAAATCAGCCGGGTATGGTGGCGGGTGCCTGTGGTCC CAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGG AGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01433.hp1 HG01891.hp2 others(3): Show HG00639.hp2 HG01433.hp1 HG01891.hp2 HG03579.hp1 HG03579.hp2 NA20129.hp1	a0006 a0008 a0041 others(3): Show a0006 a0008 a0041 a0043 a0056 a0067	a0006c0023 a0008c0110 a0041c0111 others(3): Show a0006c0023 a0008c0110 a0041c0111 a0043c0105 a0056c0087 a0067c0091	a0006c0023t0001 a0008c0110t0003 a0041c0111t0001 others(3): Show a0006c0023t0001 a0008c0110t0003 a0041c0111t0001 a0043c0105t0010 a0056c0087t0002 a0067c0091t0003	a0006c0023t0001g0080 a0008c0110t0003g0170 a0041c0111t0001g0132 others(3): Show a0006c0023t0001g0080 a0008c0110t0003g0170 a0041c0111t0001g0132 a0043c0105t0010g0171 a0056c0087t0002g0049 a0067c0091t0003g0120	6	174	0.0345	-402	c.37 others(11): Show c.3728_*4129del	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding		2695		chr1	TogoVar
FMN2_chr1_240086883_240480187	240477906	TTGCACTA others(395): Show TTGCACTACAGCCTGGGTGACTGAGCGAGACTCCGTCTCAAATCAAACAA ACAAACAAAACGACAGAAAGAAAGGACACGTCACTTAAAATGAAACGGCA GTTATTCTGAAAGTAGATTTGTCCTCAGCCACAATGTATGTTAGAAAATA GTAACGTCTTGGCTGGGCCCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTG GCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATCAGCCGG GTATGGTGGCGGGTGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCGGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp1 others(52): Show HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00741.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01978.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02280.hp1 HG02572.hp2 HG02602.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG06807.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18960.hp1 NA18972.hp1 NA19000.hp1 NA19007.hp1 NA19030.hp2 NA19077.hp2 NA20300.hp1	a0001 a0002 a0003 others(33): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0020 a0023 a0024 a0025 a0026 a0029 a0030 a0032 a0035 a0039 a0044 a0055 a0061 a0065 a0066 a0068 a0070 a0071 a0090 a0091 a0095	a0001c0009 a0001c0017 a0001c0076 others(44): Show a0001c0009 a0001c0017 a0001c0076 a0002c0008 a0002c0018 a0003c0010 a0003c0069 a0003c0085 a0003c0116 a0004c0006 a0006c0077 a0007c0071 a0007c0121 a0008c0019 a0009c0004 a0009c0052 a0010c0003 a0011c0002 a0012c0119 a0013c0020 a0013c0081 a0014c0012 a0015c0005 a0016c0011 a0020c0109 a0020c0125 a0023c0013 a0024c0051 a0025c0032 a0025c0033 a0026c0043 a0029c0063 a0030c0062 a0032c0096 a0035c0118 a0039c0068 a0044c0088 a0055c0102 a0061c0079 a0065c0112 a0066c0107 a0068c0133 a0070c0113 a0071c0123 a0090c0053 a0091c0049 a0095c0025	a0001c0009t0001 a0001c0017t0004 a0001c0076t0004 others(47): Show a0001c0009t0001 a0001c0017t0004 a0001c0076t0004 a0002c0008t0003 a0002c0018t0004 a0003c0010t0003 a0003c0069t0004 a0003c0085t0004 a0003c0116t0003 a0004c0006t0003 a0004c0006t0004 a0006c0077t0004 a0007c0071t0004 a0007c0121t0003 a0008c0019t0007 a0009c0004t0003 a0009c0052t0003 a0010c0003t0001 a0010c0003t0003 a0011c0002t0003 a0012c0119t0003 a0013c0020t0001 a0013c0081t0002 a0014c0012t0003 a0015c0005t0003 a0016c0011t0001 a0016c0011t0007 a0020c0109t0003 a0020c0125t0003 a0023c0013t0003 a0024c0051t0003 a0025c0032t0003 a0025c0033t0007 a0026c0043t0003 a0029c0063t0009 a0030c0062t0009 a0032c0096t0003 a0035c0118t0007 a0039c0068t0004 a0044c0088t0009 a0055c0102t0003 a0061c0079t0004 a0065c0112t0003 a0066c0107t0001 a0068c0133t0005 a0070c0113t0003 a0071c0123t0001 a0090c0053t0001 a0091c0049t0007 a0095c0025t0003	a0001c0009t0001g0072 a0001c0017t0004g0068 a0001c0076t0004g0083 others(52): Show a0001c0009t0001g0072 a0001c0017t0004g0068 a0001c0076t0004g0083 a0002c0008t0003g0104 a0002c0008t0003g0124 a0002c0008t0003g0125 a0002c0018t0004g0070 a0002c0018t0004g0098 a0003c0010t0003g0073 a0003c0069t0004g0067 a0003c0085t0004g0061 a0003c0116t0003g0115 a0004c0006t0003g0050 a0004c0006t0004g0091 a0006c0077t0004g0096 a0007c0071t0004g0064 a0007c0121t0003g0121 a0008c0019t0007g0113 a0009c0004t0003g0037 a0009c0004t0003g0048 a0009c0052t0003g0006 a0010c0003t0001g0016 a0010c0003t0003g0026 a0011c0002t0003g0047 a0012c0119t0003g0117 a0013c0020t0001g0082 a0013c0081t0002g0099 a0014c0012t0003g0011 a0015c0005t0003g0041 a0015c0005t0003g0045 a0016c0011t0001g0159 a0016c0011t0007g0158 a0020c0109t0003g0118 a0020c0125t0003g0126 a0023c0013t0003g0028 a0024c0051t0003g0035 a0025c0032t0003g0003 a0025c0033t0007g0024 a0026c0043t0003g0014 a0029c0063t0009g0059 a0030c0062t0009g0058 a0032c0096t0003g0128 a0035c0118t0007g0136 a0039c0068t0004g0069 a0044c0088t0009g0094 a0055c0102t0003g0114 a0061c0079t0004g0100 a0065c0112t0003g0112 a0066c0107t0001g0134 a0068c0133t0005g0153 a0070c0113t0003g0139 a0071c0123t0001g0077 a0090c0053t0001g0009 a0091c0049t0007g0157 a0095c0025t0003g0038	55	174	0.3161	-402	c.37 others(11): Show c.3753_*4154del	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding		2720		chr1	TogoVar
FMN2_chr1_240086883_240480187	240477935	ACTCCGTC others(395): Show ACTCCGTCTCAAATCAAACAAACAAACAAAACGACAGAAAGAAAGGACAC GTCACTTAAAATGAAACGGCAGTTATTCTGAAAGTAGATTTGTCCTCAGC CACAATGTATGTTAGAAAATAGTAACGTCTTGGCTGGGCCCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGT CAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTA AAAATACAAAAAATCAGCCGGGTATGGTGGCGGGTGCCTGTGGTCCCAGC TACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0009 a0009	a0009c0004 a0009c0004	a0009c0004t0003 a0009c0004t0003	a0009c0004t0003g0043 a0009c0004t0003g0043	1	174	0.0058	-402	c.37 others(11): Show c.3782_*4183del	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding		2749		chr1	TogoVar
FOXQ1_chr6_1307098_1319758	1318608	GAGGAGAC others(395): Show GAGGAGACTACAACGCCCTGGGAGACGTGCATGTGCGTATCTAGACCCTT CAGCTTCCACGTATCAGGCGATGCAGCCCCCTACAGGGACGGTGACACTG TTTGCTCTCACTCCGCAGCGTGCCAGATACAAACCCCCGCAAGGGCCACA GGCAGAATGATGCTTAGGAAGGGGTCTGCAGAGGCCGGGCGCGGTGGCGC ACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGA GTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTA CTAAAAATAAAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAG CACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGA CTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0000 a0014c0019t0001g0000	1	406	0.0025	-402	c.46 others(11): Show c.4693_*5094del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		3851		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1318799	CGGTGGCG others(395): Show CGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG ATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACC CCGTCACTACTAAAAATAAAAAATTAGCCGGGCGCGGTGGCGCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGA AGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAA TACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCACTTTG GGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCT GACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGG CAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA19063.hp1 NA18522.hp2 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0003 a0001c0001t0002 a0003c0002t0003	a0001c0001t0002g0000 a0003c0002t0003g0000 a0001c0001t0002g0000 a0003c0002t0003g0000	2	406	0.0049	-402	c.48 others(11): Show c.4884_*5285del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4042		chr6	TogoVar
FRYL_chr4_48492357_48785279	48659376	AGAAGAAG others(395): Show AGAAGAAGGAGAAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGAGGAAGAGGAAGAGGAAGAGGAAGAGGGAGAAGAGGAAGAGGGAGAA GAGGAAGAGGGAGAAGAAGAAGAGGGAGAAGAAGAAGAGGGAGAAGAGGG AGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAG GAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAA GAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGG AGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAG GAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAA GAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02965.hp2 HG03195.hp1 others(5): Show HG01255.hp2 HG02965.hp2 HG03195.hp1 HG03516.hp1 HG03927.hp2 HG04184.hp1 NA18522.hp1 NA18983.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0013 a0001c0002 a0008c0013	a0001c0002t0001 a0008c0013t0001 a0001c0002t0001 a0008c0013t0001	a0001c0002t0001g0004 a0001c0002t0001g0015 a0001c0002t0001g0017 others(5): Show a0001c0002t0001g0004 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0071 a0001c0002t0001g0108 a0008c0013t0001g0118	8	282	0.0284	-402	c.-81 others(19): Show c.-81+24895_-80-24887del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48659510	AAGAGGGA others(395): Show AAGAGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAA GGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGA AGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGG GAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAA GGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGA AGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGG GAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp2 HG02145.hp1 HG03098.hp2	a0002 a0002	a0002c0004 a0002c0026 a0002c0004 a0002c0026	a0002c0004t0001 a0002c0026t0012 a0002c0004t0001 a0002c0026t0012	a0002c0004t0001g0214 a0002c0026t0012g0207 a0002c0004t0001g0214 a0002c0026t0012g0207	2	282	0.0071	-402	c.-81 others(19): Show c.-81+24761_-80-25021del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
GET4_chr7_871554_901436	890013	TAGGACGG others(395): Show TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAG GACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCT GGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAG GGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGTGAGCGGGTGTTAG GAC	T T	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	384	0.0026	-402	c.467 others(15): Show c.467-914_467-513del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8			chr7	TogoVar
GRIN1_chr9_137134154_137173756	137144784	GGGTGGTA others(395): Show GGGTGGTAGGGACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTAGAA AGTGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCCCAG AGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGAAGGGG GTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAGTGAGAG GAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGA GTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGG GACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGAG GGGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTC CCC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	298	0.0034	-402	c.394 others(15): Show c.394-941_394-540del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19			chr9	TogoVar
HAUS5_chr19_35607735_35630355	35627679	AAAAAAAA others(395): Show AAAAAAAAAAAATAGTTCTTATCTGTTAAGGAGACATAATGGCGCATTTA TGACTGAGTTGATGTCTGGAATTTGCTTTAACATACTCCAGCAAAAAAAT ATAAAAATAAGAAAAGTATAAGGCCATGCGCAGTGGCTCATGCCTGTAAT CCCAGCACTCTGGGAGGCCGAGGCGAGTGGATCACTTGAGATCAGAAGTT TGCTACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACA AAAATTAGCCGGGTGTGGTAGTACACACCTGTAATCCCAGCTACTAGGGA AGCTGAGGCAGGAGAATCCCTTGAGTCCAGGAGGTGGAGGTTGCAGTGAG CCGAGGTCACACTACTGCAATCCAGCCTGGGCGACAGAGCGAGACTCCGT CTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01891.hp2 HG02647.hp1 others(4): Show HG01256.hp1 HG01891.hp2 HG02647.hp1 HG02723.hp1 HG03225.hp2 HG03453.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0031 a0001c0001t0013 a0001c0001t0014 a0001c0001t0031	a0001c0001t0013g0010 a0001c0001t0013g0045 a0001c0001t0013g0064 others(2): Show a0001c0001t0013g0010 a0001c0001t0013g0045 a0001c0001t0013g0064 a0001c0001t0014g0010 a0001c0001t0031g0010	7	430	0.0163	-402	c.46 others(11): Show c.4687_*5088del	HAUS5	ENSG00000249115.9	transcript	ENST00000203166.10	protein_coding		2325		chr19	TogoVar
LMF1_chr16_848634_975984	953219	CCCAAACC others(395): Show CCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCC TCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACCCCAAACCAGCTTCCTACACGTTCACACAGACACGGACCC CAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTC CTACACGTTCACACAGACACGGACCCCACACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCA AACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACAT ATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0002 a0001c0055t0002	a0001c0055t0002g0137 a0001c0055t0002g0137	1	294	0.0034	-402	c.503 others(16): Show c.503+736_503+1137del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MMEL1_chr1_2585639_2638016	2634742	ATCCCCCC others(395): Show ATCCCCCCAGACACCCACACAGACCATCCCCCCAGACACCCGCACAGACC ATCCCCCCAGACAACCTACACAGAATAAACTGTCCCCCCAGATACCTACA CAGACCATCCCCCCAACACCCACACAGACCATGCCCCCAAACACCCACAC AGACTGTCCCCCCAAACACCCACACAGACCATCCCAACACCCACATAGAC CATGCCCCCAAACACTCACACAGACTGGCCCCCCAAACACCCACACAGAC CATCCCCCCAACACCCACATAGACCATGCCCCCAAACACCCACACAGACT GTCCCCCCAGACACCCGCACAGACCATCCCAACACCCACATAGACCATGC CCCCAAACACCCACACAGACTGTCCCCCCAGACAACCTACACAGAATAAA CTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00735.hp1 others(57): Show HG00544.hp2 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01106.hp1 HG01192.hp1 HG01261.hp1 HG01361.hp1 HG01515.hp1 HG01934.hp2 HG02004.hp2 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18956.hp2 NA18974.hp1 NA18980.hp1 NA18982.hp2 NA18991.hp2 NA18995.hp1 NA18997.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19079.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0021 a0002c0023 others(1): Show a0001c0001 a0001c0021 a0002c0023 a0003c0006	a0001c0001t0001 a0001c0021t0001 a0002c0023t0001 others(1): Show a0001c0001t0001 a0001c0021t0001 a0002c0023t0001 a0003c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0135 others(53): Show a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0021t0001g0159 a0002c0023t0001g0258 a0003c0006t0001g0024 a0003c0006t0001g0157	60	343	0.1749	-402	c.-23 others(11): Show c.-2316_-1915del	MMEL1	ENSG00000142606.16	transcript	ENST00000378412.8	protein_coding		1727		chr1	TogoVar
NCOR2_chr12_124319415_124572612	124323152	CGAGTGTG others(395): Show CGAGTGTGAATACCTGACACATGGGTGTGAATACCCAACACCCTCACCCT GTGTATATGTGATACTCTTGCCATGAGTGTGAACACCTAACATCCTCACC ATGAGTGTGAACACCTGACACATGGGTGTGAATACCCAACACCCTCACCC TGTGTATATGTGATACTCTTGCCATGAGTGTGAACACCTAACATCCTCAC CATGAGTGTGAACACCTGACACATGGGTGTGAATACCCAACACCCTCACC CTGTGTATATGTGATACTCTTGCCATGAGTGTGAACCCCTAACATCCTCA CCATGAGTGTGAACACCTGACACATGGGTGTGAATACCCAACACCCTCAC CCTGTGTATATGATACTCTTGCCATGAGTGTGAACCCCTAACATCCTCAC CAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03041.hp2 HG03453.hp2 others(2): Show HG02647.hp2 HG03041.hp2 HG03453.hp2 HG06807.hp1 NA20129.hp1	a0002 a0015 a0017 others(1): Show a0002 a0015 a0017 a0047	a0002c0115 a0002c0119 a0015c0112 others(2): Show a0002c0115 a0002c0119 a0015c0112 a0017c0084 a0047c0078	a0002c0115t0007 a0002c0119t0079 a0015c0112t0007 others(2): Show a0002c0115t0007 a0002c0119t0079 a0015c0112t0007 a0017c0084t0003 a0047c0078t0018	a0002c0115t0007g0167 a0002c0119t0079g0233 a0015c0112t0007g0183 others(2): Show a0002c0115t0007g0167 a0002c0119t0079g0233 a0015c0112t0007g0183 a0017c0084t0003g0121 a0047c0078t0018g0123	5	234	0.0214	-402	c.18 others(11): Show c.1848_*2249del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding		1262		chr12	TogoVar
P2RX5_chr17_3668227_3701155	3685727	GAGAACAG others(395): Show GAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAA CGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	362	0.0028	-402	c.981 others(17): Show c.981+1883_981+2284del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
RAN_chr12_130867066_130882678	130882146	TTCTCACC others(395): Show TTCTCACCTCTAGGTACTCCCGAGAGCGCCTCCTCTATCACCACAGATCC GCGTAGCCTGCATCACTGATCTCACCTCTAGGTACTCCTGAGAACTCCTC CTCCGTCTGTGGATCTGCGTGGTCTCCATCACTGATCTCACCTCTAGGTA CTCCCGAGAGTGCCTCCTCCATCACCACAGATCCGCGTAGCCTGCATCAC TGATCTCACCTCTAGGTACTCCTGAGAACTCCTCCTCCGTCTGTGGATCT GCGTGGTCTCCATCACTGATCTCACCTCTAGGTACTCCCGAGAGTGCCTC CTCCATCACCACAGATCCGCGTAGCCTGCATCACTGATCTCACCTCTAGG TACTCCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGTGGTCTCCATCAC TGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02622.hp2 others(6): Show HG02257.hp2 HG02486.hp2 HG02622.hp2 HG02818.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0005 a0001c0001t0004g0019 others(1): Show a0001c0001t0001g0001 a0001c0001t0004g0005 a0001c0001t0004g0019 a0001c0001t0004g0028	9	426	0.0211	-402	c.62 others(11): Show c.6221_*6622del	RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding		4469		chr12	TogoVar
RBM42_chr19_35624036_35642685	35627679	AAAAAAAA others(395): Show AAAAAAAAAAAATAGTTCTTATCTGTTAAGGAGACATAATGGCGCATTTA TGACTGAGTTGATGTCTGGAATTTGCTTTAACATACTCCAGCAAAAAAAT ATAAAAATAAGAAAAGTATAAGGCCATGCGCAGTGGCTCATGCCTGTAAT CCCAGCACTCTGGGAGGCCGAGGCGAGTGGATCACTTGAGATCAGAAGTT TGCTACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACA AAAATTAGCCGGGTGTGGTAGTACACACCTGTAATCCCAGCTACTAGGGA AGCTGAGGCAGGAGAATCCCTTGAGTCCAGGAGGTGGAGGTTGCAGTGAG CCGAGGTCACACTACTGCAATCCAGCCTGGGCGACAGAGCGAGACTCCGT CTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01891.hp1 HG02647.hp1 others(4): Show HG01256.hp1 HG01891.hp1 HG02647.hp1 HG02723.hp1 HG03225.hp2 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0047 a0001c0001t0002g0048 others(1): Show a0001c0001t0002g0014 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0060	7	428	0.0164	-402	c.-14 others(11): Show c.-1474_-1073del	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1356		chr19	TogoVar
RPH3AL_chr17_207389_357807	254111	CGCACGGC others(395): Show CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCC TGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCGTCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGA GCT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	133	0.0075	-402	c.439 others(17): Show c.439-7228_439-6827del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254155	TACGTACT others(395): Show TACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCC TAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGT CTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGA GGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACC CTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCC CTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCG TCTGTCCTTTTCCGTCCCTAGGAATATGACTACCCTACGTACTTCCTATG AGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTAC CCA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	133	0.0075	-402	c.439 others(17): Show c.439-7272_439-6871del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255066	TTTCCGTC others(395): Show TTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	133	0.0075	-402	c.439 others(17): Show c.439-8183_439-7782del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255093	TACGTACT others(395): Show TACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCC TAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGT CTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGA GGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACC CTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCC CTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCG TCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATG AGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTAC CCA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	133	0.0075	-402	c.439 others(17): Show c.439-8210_439-7809del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257494	CGTGACTA others(395): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTC CTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGG AAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG02738.hp1 others(6): Show HG01361.hp1 HG01496.hp1 HG02738.hp1 HG02818.hp1 NA18995.hp2 NA19003.hp2 NA19005.hp2 NA19056.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0004t0026	a0001c0001t0002g0029 a0001c0001t0003g0051 a0001c0001t0004g0021 others(6): Show a0001c0001t0002g0029 a0001c0001t0003g0051 a0001c0001t0004g0021 a0001c0001t0006g0120 a0001c0001t0021g0077 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0002g0038 a0001c0004t0026g0013	9	133	0.0677	-402	c.439 others(19): Show c.439-10611_439-10210del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257540	GTCCTTTT others(395): Show GTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGG GGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCT ACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCT AGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTC TGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAG GGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCC TACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCC TAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGT CTA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0020 a0003c0012t0005g0020	1	133	0.0075	-402	c.439 others(19): Show c.439-10657_439-10256del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SFI1_chr22_31491536_31623588	31591999	GGGGGCCG others(395): Show GGGGGCCGACCCCCTCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCAGGCGGAGGGCTGACCCCCCCACCTCCCT CCCAGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGTTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGG CAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0015 a0006c0008t0001g0015	1	322	0.0031	-402	c.154 others(19): Show c.1544+2427_1544+2828del	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SHC2_chr19_411589_466033	432924	CGGGCAGA others(395): Show CGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCAGGGCAGATAGATG GCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCA GATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAG GCG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02735.hp2 HG00323.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0131 a0001c0001t0001g0103 a0001c0001t0001g0131	2	212	0.0094	-402	c.111 others(19): Show c.1110+1383_1110+1784del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC35F1_chr6_117902264_118322671	117923621	ATATATAC others(395): Show ATATATACATATATGTACATATGTACATATGTACATATGTATATATACAT ATATGTACATATATACATATGTACATATACATATATGTACATATATACAT ATATACATATGTATATATACATATATGTACATATATACATATGCACATAC ATATGTATATATACATATATGTACATATATACATATACACATACATATGT ATATATACATATACACATTACATATATGCACATATATATGTGTGTACATA TATACATATGTAGATACACATATACACATATATGTGTGTGTACATATATA CATATGTGTTATGTACTAGATTGACACTTTATATATACATATATAGGGAA TAGAATGGAAATTGACATACATATATACACATACATGTGTGTACGTATAT ACC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	182	0.0055	-402	c.173 others(19): Show c.173+15727_173+16128del	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
STK38L_chr12_27239286_27330959	27240751	ATGTATAG others(395): Show ATGTATAGTTGTATAGTTATATATATTACATATATGACTATGTATAGTTG TATAGTTATATATATTACATATATCACTATGTATAGTTGTATAGTTATAT ATATTACATATATCACTATGTATAGTTGTATAGTTATATATATTACATAT ATGACTATGTATAGTTATATATATTACATATATGACTATGTATAGTTATA TATATTACATATATGACTATGTATAGTTATATATATTACATATATGACTG TATAGTTATATATATTACATATATGACTATGTATAGTTATATATATTACA TATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTT ATATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGA CTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02970.hp2 HG03471.hp2 others(2): Show HG02257.hp2 HG02970.hp2 HG03471.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0155 a0001c0001t0002g0104 a0001c0001t0002g0105 others(2): Show a0001c0001t0001g0155 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0014g0108	5	374	0.0134	-402	c.-35 others(11): Show c.-3592_-3191del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3534		chr12	TogoVar
TENM2_chr5_166974029_168269157	167859417	CGGGAGGT others(395): Show CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCA GCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGTGCCTCTGCC CAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCG TCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG03098.hp1 others(1): Show HG02622.hp1 HG02630.hp2 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0017 a0001c0019 others(1): Show a0001c0002 a0001c0017 a0001c0019 a0001c0027	a0001c0002t0002 a0001c0017t0002 a0001c0019t0003 others(1): Show a0001c0002t0002 a0001c0017t0002 a0001c0019t0003 a0001c0027t0002	a0001c0002t0002g0032 a0001c0017t0002g0053 a0001c0019t0003g0022 others(1): Show a0001c0002t0002g0032 a0001c0017t0002g0053 a0001c0019t0003g0022 a0001c0027t0002g0031	4	54	0.0741	-402	c.503 others(19): Show c.503-16512_503-16111del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
U2SURP_chr3_142996570_143065725	143047177	ATCCCCCC others(395): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCAGGCGGGGGGCTGA TCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCTGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC CCCCCTCCCCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACTG GGCGGCTGACCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGG GCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCT GAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	378	0.0027	-402	c.254 others(19): Show c.2545-3761_2545-3360del	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27			chr3	TogoVar
ABR_chr17_998519_1184981	1131493	CTTTGCAC others(394): Show CTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCTCTTTG CACACCAAATGCAGTGCCTGCCACGCACACAGCTCCCCCCTTTGCACACC AAATGCAGTGCCTGACACGCACACAGCTCCCCCCTTTGCACACCAAATGC AGTGCCTGACACGCACACAGCTCCCCCTTTGCACACCAAATGCAGTGCCT GCCACGCGCACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACG CGCAGAGCTCCCCCCTCTTTGCACACCAAATGCAGTGCCTGCCACGCGCA CAGCTCCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCT CCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCC CT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00597.hp2 others(74): Show HG00140.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01261.hp1 HG01884.hp1 HG01952.hp1 HG01975.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG06807.hp2 NA18940.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18967.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19080.hp1 NA19085.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0045 a0001c0001t0059 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0075 a0001c0001t0077 a0001c0001t0079 a0001c0001t0084 a0001c0001t0089 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0038 a0001c0002t0092 a0001c0013t0018 a0001c0014t0010	a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0098 others(74): Show a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0002g0053 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0112 a0001c0001t0003g0150 a0001c0001t0003g0222 a0001c0001t0004g0248 a0001c0001t0004g0290 a0001c0001t0004g0319 a0001c0001t0005g0266 a0001c0001t0005g0269 a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0291 a0001c0001t0005g0304 a0001c0001t0005g0322 a0001c0001t0006g0055 a0001c0001t0006g0077 a0001c0001t0006g0090 a0001c0001t0006g0141 a0001c0001t0007g0306 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0333 a0001c0001t0008g0011 a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0009g0018 a0001c0001t0009g0036 a0001c0001t0010g0274 a0001c0001t0010g0314 a0001c0001t0010g0321 a0001c0001t0012g0093 a0001c0001t0013g0049 a0001c0001t0014g0103 a0001c0001t0014g0243 a0001c0001t0015g0275 a0001c0001t0017g0225 a0001c0001t0021g0272 a0001c0001t0022g0047 a0001c0001t0023g0035 a0001c0001t0033g0264 a0001c0001t0034g0003 a0001c0001t0035g0014 a0001c0001t0036g0044 a0001c0001t0045g0247 a0001c0001t0059g0166 a0001c0001t0065g0137 a0001c0001t0067g0091 a0001c0001t0068g0160 a0001c0001t0075g0156 a0001c0001t0077g0067 a0001c0001t0079g0267 a0001c0001t0084g0330 a0001c0001t0089g0331 a0001c0002t0002g0100 a0001c0002t0008g0037 a0001c0002t0011g0109 a0001c0002t0011g0228 a0001c0002t0012g0244 a0001c0002t0038g0013 a0001c0002t0092g0336 a0001c0013t0018g0108 a0001c0014t0010g0307	77	337	0.2285	-401	c.62- others(15): Show c.62-6527_62-6127del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
CAMSAP2_chr1_200733893_200865704	200855038	TGTTAGAG others(394): Show TGTTAGAGTTTCTGTTAAAATAAATTATGTAAAGAGGTGTCTATTCATCT TTCAGTGCTTGTCTTTTAGAATTTAGAATTATTGACATTGATAACATACT TTTTATAAGCTATGAAACATTAACAGTAATTATACATCAGTAATTGCTAA CATGATTATTAAATCACAGTCAGTAGAATGAGAGTACCAACTTCTCTAGT CTATTACCAACTAAGACAAAGGAGTTTTCCCCATTAGAATAATTCCAAAG TGGGTTGCCTATGACTTAGGAAGGATCTCTTTTGTATTTTCTTTCTCTAG GATTCTTTCTCTAGATTAGAAGCTAAAAGTCAGTATTTTATTACTTTATA CTATAATATCATATCAGAAAAGAACATTTCTAGTGACAGTCATCATCTTA GA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	366	0.0027	-401	c.389 others(17): Show c.3896+153_3896+553del	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLDN8_chr21_30209006_30221097	30210178	AATATATA others(394): Show AATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTACATATATAT ATATATATATATATATATAGTCTCCCTAATTGTAATTCAAGGTACGTATG TGTATATATATATATATATATATATATATATATATATATATATATATATA TAGTCTCCCTAATTCTAATTCAAGGTACATATATATATATATATATATAT ATATATATAGTCTCCCTAATTCTAATTCAAGGTACATATATATATATATA TATATATATATATAGTCTCCCTAATTCTAATTCAAGGTACATATATATAT ATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTACATATATA TATATATATATAGTCTCCCTAATTCTAATTCAAGGTATATATATATATAT AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	-401	c.46 others(11): Show c.4669_*5069del	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3827		chr21	TogoVar
COX20_chr1_244830658_244850057	244839099	TAGTAAAT others(394): Show TAGTAAATTATTGCAAGTGAAAAAACTAACGATGCAAATGAAAGGGGTAG CTATAGAAGCCAAGCCCTTGAGTATGCAAGAGGGGAATCAAGTGCCCAAG TGGGAAGACTAGCATTAGATAGGAATAGGGCCAATTCATCCTTTGCAACC AGAGGAAAGAAATACGGGCACTGAAGCAGATTTAGTGGTGGAAAATCAAC TGTCTCTAATTTGATCAGATCTATTTCTATACATTATTGACATTCTGGCT TGGAAATCTCTTGAGCTTTCCTTAGATTGATCAGGGTGAGCTGGTAAAGC TGCTTTTCTAAATCTAAGCTTAAAAAATGTCTGACATTTCCTTAATTTAT TTTTAAGGGTTCCCGTTTGTTAGTGGCAAAGAGTTAAATCTTAAGTATGC AG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	298	0.0034	-401	c.43- others(15): Show c.43-2844_43-2444del	COX20	ENSG00000203667.10	transcript	ENST00000411948.7	protein_coding	1/3			chr1	TogoVar
CTNND2_chr5_10966836_11909446	11816957	AGAGAGAG others(394): Show AGAGAGAGAGAGGAGGAGAGAGAGAGAGGAGGAGGAGAGAGAGAGAGAGG AGGAGAGAGAGAGAGAGGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAG AGAGAGGAGGAGAGAGAGAGAGAGGAGGAGGAGAGAGAGAGAGAGGAGGA GAGAGAGAGAGGAGGAGGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGGA GGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAG AGAGAGGAGGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGAGAAGAGAGA GAGAGGGGGAGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGGGGGAGAGA GAGAGAGAGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGAGG AG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	26	0.0385	-401	c.38- others(17): Show c.38-85086_38-84686del	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
DACT2_chr6_168301904_168324777	168317469	TGTGTGTA others(394): Show TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTG TCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTGTGGTGCAA ACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGT CTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGT CTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGT GTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTG CGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTT CC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18963.hp1 NA18983.hp1 others(3): Show NA18944.hp2 NA18963.hp1 NA18983.hp1 NA18983.hp2 NA19000.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0011 a0002c0003t0009 a0001c0001t0001 a0001c0001t0011 a0002c0003t0009	a0001c0001t0001g0053 a0001c0001t0001g0231 a0001c0001t0001g0232 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0011g0233 a0002c0003t0009g0296	6	476	0.0126	-401	c.246 others(17): Show c.246+1518_246+1918del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DCC_chr18_52335197_53540899	53086155	TCCTCTTC others(394): Show TCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTTTCTTCTTCTTCTTTTCT TCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCTTCTTCTTCTTCCTTTCT TCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTT CTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCTTCCT TTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTT TCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTT CTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTTCTTCTTCTTCCTTT CTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCTTCTTCTTTCTTCTTCT TC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02622.hp2 HG02970.hp1 others(3): Show HG01106.hp1 HG02622.hp2 HG02970.hp1 HG03130.hp1 HG03130.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0015 a0002c0001 others(1): Show a0001c0003 a0001c0015 a0002c0001 a0002c0004	a0001c0003t0013 a0001c0003t0030 a0001c0015t0022 others(3): Show a0001c0003t0013 a0001c0003t0030 a0001c0015t0022 a0002c0001t0006 a0002c0004t0003 a0002c0004t0013	a0001c0003t0013g0075 a0001c0003t0030g0020 a0001c0015t0022g0101 others(3): Show a0001c0003t0013g0075 a0001c0003t0030g0020 a0001c0015t0022g0101 a0002c0001t0006g0010 a0002c0004t0003g0083 a0002c0004t0013g0042	6	114	0.0526	-401	c.126 others(21): Show c.1261+19991_1261+20391del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX1_chr2_15586868_15636101	15611589	GGGGCGGC others(394): Show GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCC GGGCAGAGGCACCCCCCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTTCCTCCCGG ACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCCACCACCTCCCTCCCGGA CA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp1 HG02818.hp1 others(3): Show HG01261.hp1 HG01884.hp1 HG02818.hp1 HG03579.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0247 a0001c0001t0001g0248 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250	6	396	0.0152	-401	c.957 others(17): Show c.957-1590_957-1190del	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX42_chr17_63769170_63824317	63788173	GGGATTAC others(394): Show GGGATTACATGCATGAGCTACTGCACCTGGCCTGGTGGTCTTTACTGCAG TCTTTTACTGACACCATATAAATTGTTTAGTAAACACAGGCCGTTGTCAG AACTGATGGAAATACAAGTTTGCTTCAACATCTGAGTCTTTTTTTTTTTT TTTTTTGAGATGGAGTCTCTCTCACCCAGGCTGGAATGCAGTAGCGCGAT CTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCT CAGCCTCCCAAGTAACTAGGACTACAGGCACGTGCCACCATGCCCAGCTA ATTTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTAGCCACAATG GTCTCAATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAACTGC TA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	332	0.0030	-401	c.221 others(16): Show c.221+910_221+1310del	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DDX51_chr12_132131594_132149319	132148918	CACCACAC others(394): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC AC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	334	0.0030	-401	c.-50 others(11): Show c.-5023_-4623del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4600		chr12	TogoVar
DIP2C_chr10_269201_694668	678633	ATGTCCAT others(394): Show ATGTCCATGCTCCCCGCACCTGTCCTCCCTGTGCCCAGCTCCCCACGCCC ATGCTCCCCACACCCGTTCTCCCCACGCCCATGCTCCCCACACCCGTGCT CCCCGCGCCCATCTCTGCTCCCCATGTCCATGCTCCCCGCACCTGTCCTC CCTGCGCCCATGCTCCCCACGCCCATGCTCCCCGCGCCCATGCTCCCCAC ACCCGTGCTCCCCGCACCCATCTCTGCTCCCCACGCCCATGCTCCCCGCA CCCATCCTCCCCCCACCCATGCTCCCCGCGCCCATGCTCCCCGCACCCAT GCTCCCCACACCCGTCCTCCCCGCGCCCATGCTCCTCACACCCGTGCTCC CCGCGCCCATCTCTGCTCCCCATGTCCATGCTCCCCGCACCTGTCCTCCC CG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	-401	c.85+ others(17): Show c.85+10460_85+10860del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
FGL1_chr8_17859389_17900524	17883751	GGAACCTC others(394): Show GGAACCTCTCCCAGCCATTTTTCTAGGATGGTTTCTCCCTTTTCCTTCCC CTTCCCCTTTCCCTTCCTCTTCCCTTACGTTTCCTTTCTCAGAACCTCTC CCAGATATCTTTTCTAGGATGATTTCTTTCTCCTCTTTTCTTTTTCTTTT CTTTTGTTCTTTTCCTCTCTTTCTCCTTCCCTCCTTCCCTCCCTTCCTTC CTTCCTTTCTTTTCTTTCCTTTCTTCCCATCCCTAGGTCCAAGTCACAGA ACCTCTCCCAGCCATTTTTCTAAAATGATTTCTTTCTCCTCTTCTTTTTC TTTTCTTTTGTTCTTTTCCTTTCTTTCTCCTTCCCTCCCTCCCTCCCTTC CTTCTTTTCTTTTCTTTCTTTCCTTTCTTCCCATCCCTAGGTCCAAGTCA CA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0003 a0014c0017t0003	a0014c0017t0003g0028 a0014c0017t0003g0028	1	366	0.0027	-401	c.63+ others(15): Show c.63+1340_64-1573del	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FOXQ1_chr6_1307098_1319758	1318915	TAAAAAAT others(394): Show TAAAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTG GGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCT GACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGG CATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAA CCCCGTCACTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAG GAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAA AA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	-401	c.50 others(11): Show c.5000_*5400del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4158		chr6	TogoVar
GALNT9_chr12_132191372_132334589	132212399	CGACACGG others(394): Show CGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACCTCGACACGGAA ACCCCACCCGGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCCG GGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAGC CCTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACCT CGACACGGAAACCCCACCCGGGTCTAGCAGCCCTCAGACCTCGACACAGA AACCCCACCCGGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCC GGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAG CCCTCAGACCGTGACATGGAAACCCCACCCGGGTCTGCAGCCCTCAGACC GT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0038 a0001c0031t0001g0038	1	183	0.0055	-401	c.107 others(19): Show c.1078-9110_1078-8710del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GPR176_chr15_39794008_39925266	39893758	CGGGGCGG others(394): Show CGGGGCGGCTGGCCAGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGG CTGACCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCGGGGGCTGACCCCCCCACCTCCCTCCCGG AT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	312	0.0032	-401	c.172 others(19): Show c.172+25696_172+26096del	GPR176	ENSG00000166073.12	transcript	ENST00000561100.2	protein_coding	1/2			chr15	TogoVar
HAUS5_chr19_35607735_35630355	35627680	AAAAAAAA others(394): Show AAAAAAAAAAATAGTTCTTATCTGTTAAGGAGACATAATGGCGCATTTAT GACTGAGTTGATGTCTGGAATTTGCTTTAACATACTCCAGCAAAAAAATA TAAAAATAAGAAAAGTATAAGGCCATGCGCAGTGGCTCATGCCTGTAATC CCAGCACTCTGGGAGGCCGAGGCGAGTGGATCACTTGAGATCAGAAGTTT GCTACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAA AAATTAGCCGGGTGTGGTAGTACACACCTGTAATCCCAGCTACTAGGGAA GCTGAGGCAGGAGAATCCCTTGAGTCCAGGAGGTGGAGGTTGCAGTGAGC CGAGGTCACACTACTGCAATCCAGCCTGGGCGACAGAGCGAGACTCCGTC TC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA19030.hp1 NA19043.hp2 HG02922.hp2 NA19030.hp1 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0019 a0005c0005t0014 a0005c0005t0019	a0005c0005t0014g0010 a0005c0005t0019g0026 a0005c0005t0014g0010 a0005c0005t0019g0026	3	430	0.0070	-401	c.46 others(11): Show c.4688_*5088del	HAUS5	ENSG00000249115.9	transcript	ENST00000203166.10	protein_coding		2326		chr19	TogoVar
LGI1_chr10_93752936_93803159	93785719	CAGGTATT others(394): Show CAGGTATTTTGCTTTCTGGTAGCAAAACTCGGTGCAGAGGTGGAATCTGA AGAATCAAATAATCCTAATATCAACCCTAAAATAACCCTAACCCTAACCC ACAAAGTGCTATCTCAGTCTCTCTAGCTGTTAAAATTCCCTGATAGACAC AGGATCTCATTCTACTTACCCCTTTTTTAATGACTAAATGCTGAGGAGGC TTCAGGGAACGTCGCGTGACTTGCCCTTTTTTTTTCCTGTTGCCCCTGAG CCCGGTGCCCTCAGCAGCCCTCCGCTGCAGCAAATCTCCCTGAAGCCCTC AGATGCCCATGATGATTTGTGGAGGCAACAGGCCCTCATCACAGCTGGCT TTAAGCTGGCGCAAAGAACCACAGCGGTGGCTTCAAGCCTCGGCTGCCCT GT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(285): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0007 a0001c0001 a0001c0003 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(225): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0157 a0001c0001t0003g0001 a0001c0003t0001g0067 a0001c0003t0001g0068 a0004c0007t0001g0057	288	376	0.7660	-401	c.432 others(17): Show c.432-4377_432-3977del	LGI1	ENSG00000108231.14	transcript	ENST00000371418.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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