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
PAH_chr12_102831889_102922244	102848291	TAAGTGTA others(168): Show TAAGTGTAGACAGGACACCAGGAGACTGGAGAGGTGGAGGGTAGACAGGA TACCAGGAGACTGAAGAGGTGGAGGGTAGACGGGACACCAGGACACTAGA AAGGCTGAGTGTAGATGGGACACCAGGAGACTGGAGAGGTTGAGGATAGA CAGGACACCAGGAGACTGGAGAGGTG	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0140 a0001c0004t0001g0140	1	312	0.0032	-175	c.913 others(17): Show c.913-1515_913-1341del	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	8/12			chr12	TogoVar
PCNT_chr21_46319156_46450769	46403152	AGTGTGTG others(168): Show AGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTG GGAGAATCGTGTGTGTGTGGTGCCCACGCGGCGCATGCTCGGTGAATGAA CACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCAGCGCGTGCTCGGT GAATGAACACAGCGTGGGAGAATTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01070.hp2 others(5): Show HG00140.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01243.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0006 a0006	a0006c0006 a0006c0017 a0006c0006 a0006c0017	a0006c0006t0001 a0006c0017t0001 a0006c0006t0001 a0006c0017t0001	a0006c0006t0001g0013 a0006c0006t0001g0015 a0006c0006t0001g0016 others(5): Show a0006c0006t0001g0013 a0006c0006t0001g0015 a0006c0006t0001g0016 a0006c0006t0001g0019 a0006c0006t0001g0021 a0006c0006t0001g0023 a0006c0006t0001g0081 a0006c0017t0001g0020	8	332	0.0241	-175	c.511 others(17): Show c.5115+726_5115+900del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGQ_chr16_564968_589109	588689	CTGGAGGA others(168): Show CTGGAGGAGGGTTCTTGCCGGGCTCTGCTCCTCGCCGGCGGGGCAGACGT GACGGGCTCCGCACCCGGTCTGGAGAGGGCTGCGCTGGGTCGGCGCTGAC GTTACTGCTTTTACTTACGACTGTAACAGCGCTACTGAACGCAGAGCACG TATCACAAAGCTCACCCGTTCCGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0327 a0002c0001t0001g0327	1	408	0.0025	-175	c.56 others(11): Show c.5655_*5829del	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		4581		chr16	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(168): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01099.hp2 others(35): Show HG00323.hp2 HG01069.hp2 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG02055.hp2 HG02129.hp1 HG02145.hp2 HG02293.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18945.hp2 NA18952.hp1 NA18971.hp2 NA18993.hp1 NA19009.hp1 NA19054.hp2 NA19074.hp2 NA19088.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0006 a0001c0007 others(5): Show a0001c0001 a0001c0006 a0001c0007 a0001c0020 a0001c0021 a0001c0022 a0001c0033 a0008c0015	a0001c0001t0001 a0001c0001t0008 a0001c0006t0004 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0006t0004 a0001c0007t0002 a0001c0007t0004 a0001c0020t0003 a0001c0021t0018 a0001c0022t0003 a0001c0033t0001 a0008c0015t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0031 others(35): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0001g0195 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0008g0041 a0001c0006t0004g0254 a0001c0007t0002g0179 a0001c0007t0004g0207 a0001c0020t0003g0241 a0001c0021t0018g0226 a0001c0022t0003g0061 a0001c0033t0001g0121 a0008c0015t0001g0053	38	302	0.1258	-175	c.-84 others(17): Show c.-84-1347_-84-1173del	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PLCL1_chr2_197799593_198154863	198051803	CGGCTCAC others(168): Show CGGCTCACTGCAACCTGTCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGGCCAGCTAATTA TCATTATTATTATTATTATTTTTTGAGACCGAGTTTCACTCTTGTTGTCC AGGCTGGAGTGCAATGGCGTGATCTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18522.hp2 HG02970.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0001 a0001c0001t0010 a0001c0004t0001	a0001c0001t0010g0204 a0001c0004t0001g0134 a0001c0001t0010g0204 a0001c0004t0001g0134	2	204	0.0098	-175	c.241 others(19): Show c.241-31947_241-31773del	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLOD1_chr1_11929717_11980537	11959546	GATTCTCC others(168): Show GATTCTCCTGCCTCAGCCTCCCAAGTAACTGAGACTACAGGCATGCGCCA TCACAACTGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTGAGACGGAGT CTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCAGTG CAACCTCTGCCTCCCAGGTTCAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG03139.hp1 others(3): Show HG01243.hp1 HG02559.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0010 a0002c0019 a0002c0003 a0002c0010 a0002c0019	a0002c0003t0001 a0002c0010t0001 a0002c0019t0002 a0002c0003t0001 a0002c0010t0001 a0002c0019t0002	a0002c0003t0001g0016 a0002c0003t0001g0303 a0002c0003t0001g0310 others(2): Show a0002c0003t0001g0016 a0002c0003t0001g0303 a0002c0003t0001g0310 a0002c0010t0001g0304 a0002c0019t0002g0332	6	380	0.0158	-175	c.975 others(15): Show c.975+921_976-904del	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLTP_chr20_45893622_45917155	45909234	ATTTCAGG others(168): Show ATTTCAGGCATGAGCCACCACAGCCAGCCTTGTTCTAAATATTTTTTACA TATACCAACACAAATAATCCTGACAACGATCTTATAAAATAGGATCTTAT AAAATGAGGATATTGAGGCACCAAGCTTCAGTGACTTGGCCACGTTCACA CAGCCAGGAAGTGACAGAGCTGAGCT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03540.hp2 HG02055.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0168 a0001c0011t0001g0169 a0001c0001t0001g0168 a0001c0011t0001g0169	2	432	0.0046	-175	c.485 others(15): Show c.485+107_485+281del	PLTP	ENSG00000100979.15	transcript	ENST00000372431.8	protein_coding	5/15			chr20	TogoVar
PPARD_chr6_35337558_35433178	35384038	GGGGGGGT others(168): Show GGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTC GGGGCGTCAGCCTCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCTGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCGGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	238	0.0042	-175	c.-10 others(21): Show c.-101-26942_-101-26768del	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARD_chr6_35337558_35433178	35384522	CGGGAGGT others(168): Show CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GGCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCTGGCCAGCCGCCCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02055.hp1 HG02486.hp1 others(13): Show HG00642.hp2 HG02055.hp1 HG02486.hp1 HG02486.hp2 HG02647.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0002t0006 a0001c0001t0001 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0001t0001g0064 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0002t0004g0066 a0001c0002t0004g0072 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0006g0069	16	238	0.0672	-175	c.-10 others(21): Show c.-101-26266_-101-26092del	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRDM7_chr16_90051566_90082331	90052914	CTGGTGAA others(168): Show CTGGTGAATCTCTGTAGACCGGCCGGAACCACTGCCTGGTGAATCTCTGT AGACCGGCCGGAACCACTGCCTGGTGAATCTCTGTAGACCGGCCGGAACC ACTGCCTGATCATTCTCTGTAGACCGGCCGGAAGCACTGCCTGGTCATTC TCTGTAGACCGGCCGGAACCACTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03654.hp2 HG02738.hp1 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0155 a0002c0002t0003g0159 a0002c0002t0003g0155 a0002c0002t0003g0159	2	392	0.0051	-175	c.52 others(11): Show c.5200_*5374del	PRDM7	ENSG00000126856.16	transcript	ENST00000449207.8	protein_coding		3651		chr16	TogoVar
PRIMA1_chr14_93713298_93793485	93722007	CTAGTGGT others(168): Show CTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02257.hp2 HG02717.hp1 others(8): Show HG02056.hp1 HG02257.hp2 HG02717.hp1 HG02922.hp2 HG02970.hp1 HG03239.hp1 HG03540.hp2 NA18950.hp1 NA18953.hp1 NA18993.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0007	a0001c0001t0002 a0001c0001t0018 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0018 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0002c0007t0002	a0001c0001t0002g0149 a0001c0001t0002g0221 a0001c0001t0002g0281 others(8): Show a0001c0001t0002g0149 a0001c0001t0002g0221 a0001c0001t0002g0281 a0001c0001t0018g0216 a0001c0001t0018g0217 a0001c0002t0001g0296 a0001c0002t0001g0373 a0001c0002t0001g0378 a0001c0004t0001g0287 a0001c0005t0001g0211 a0002c0007t0002g0204	11	397	0.0277	-175	c.360 others(15): Show c.360-636_360-462del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722071	ATGGTGGT others(168): Show ATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02723.hp1 HG03098.hp2 others(2): Show HG02056.hp2 HG02723.hp1 HG03098.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0015 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0002 a0001c0006t0008 a0001c0006t0015	a0001c0001t0001g0140 a0001c0001t0015g0178 a0001c0003t0002g0200 others(2): Show a0001c0001t0001g0140 a0001c0001t0015g0178 a0001c0003t0002g0200 a0001c0006t0008g0356 a0001c0006t0015g0343	5	397	0.0126	-175	c.360 others(15): Show c.360-700_360-526del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722211	GTGGTGGT others(168): Show GTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00558.hp1 others(46): Show HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02273.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG03492.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18960.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0012 a0001c0003t0022 a0001c0006t0002 a0001c0006t0003 a0001c0006t0025	a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0002g0051 others(45): Show a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0002g0051 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0134 a0001c0001t0002g0143 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0348 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0002g0383 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0172 a0001c0001t0003g0264 a0001c0001t0003g0377 a0001c0001t0024g0370 a0001c0003t0001g0226 a0001c0003t0002g0013 a0001c0003t0002g0019 a0001c0003t0002g0020 a0001c0003t0002g0022 a0001c0003t0002g0057 a0001c0003t0002g0067 a0001c0003t0003g0004 a0001c0003t0003g0083 a0001c0003t0003g0085 a0001c0003t0010g0016 a0001c0003t0010g0017 a0001c0003t0010g0021 a0001c0003t0012g0248 a0001c0003t0022g0084 a0001c0006t0002g0166 a0001c0006t0002g0275 a0001c0006t0003g0092 a0001c0006t0003g0355 a0001c0006t0025g0303	49	397	0.1234	-175	c.360 others(15): Show c.360-840_360-666del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2106634	AGCCCCTC others(168): Show AGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAAC TCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGC CAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(63): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02895.hp2 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18954.hp1 NA18964.hp2 NA18975.hp1 NA18983.hp1 NA19003.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004	a0001c0001t0001g0066 a0001c0001t0001g0257 a0001c0002t0001g0013 others(63): Show a0001c0001t0001g0066 a0001c0001t0001g0257 a0001c0002t0001g0013 a0001c0002t0001g0070 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0167 a0001c0002t0001g0197 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0238 a0001c0002t0001g0243 a0001c0002t0001g0246 a0001c0002t0001g0271 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0004g0149 a0001c0002t0004g0215 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0109 a0001c0003t0001g0111 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0127 a0001c0003t0001g0139 a0001c0003t0001g0259 a0001c0003t0001g0266 a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0003g0199 a0001c0003t0003g0200 a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0003t0004g0129	66	286	0.2308	-175	c.335 others(19): Show c.335-28600_335-28426del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGES3L_chr17_42963103_42985080	42967115	TATATATA others(168): Show TATATATAAAATATATATTATATAATATATAATATAATATATAAAATATA TATTATATAATATATAATATAATATATAAAATATATATTATATAATATAT AATATAATATATAAAATATATATTATATAATATATAATATAATATATAAA ATATATATTATATAATATATAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02886.hp2 HG01109.hp2 HG02486.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106	3	336	0.0089	-175	c.18 others(11): Show c.1858_*2032del	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		987		chr17	TogoVar
PXMP4_chr20_33697758_33725310	33699587	TGCCTCGT others(168): Show TGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAATGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGG GGGGTCAGCCCCCCGCCTGGCCAGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(121): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp2 HG02155.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0002c0002 a0003c0003 a0001c0008 a0002c0002 a0003c0003	a0001c0008t0045 a0002c0002t0002 a0002c0002t0006 others(22): Show a0001c0008t0045 a0002c0002t0002 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0014 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0002c0002t0023 a0002c0002t0024 a0002c0002t0030 a0002c0002t0032 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0002t0041 a0002c0002t0063 a0003c0003t0002	a0001c0008t0045g0053 a0002c0002t0002g0001 a0002c0002t0002g0003 others(55): Show a0001c0008t0045g0053 a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0039 a0002c0002t0002g0045 a0002c0002t0002g0172 a0002c0002t0002g0174 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0189 a0002c0002t0002g0198 a0002c0002t0002g0200 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0006g0040 a0002c0002t0006g0190 a0002c0002t0006g0191 a0002c0002t0008g0026 a0002c0002t0008g0046 a0002c0002t0008g0048 a0002c0002t0008g0187 a0002c0002t0009g0024 a0002c0002t0009g0044 a0002c0002t0009g0168 a0002c0002t0011g0028 a0002c0002t0011g0170 a0002c0002t0011g0197 a0002c0002t0014g0173 a0002c0002t0014g0182 a0002c0002t0014g0194 a0002c0002t0014g0196 a0002c0002t0019g0042 a0002c0002t0019g0175 a0002c0002t0020g0027 a0002c0002t0021g0138 a0002c0002t0021g0140 a0002c0002t0021g0166 a0002c0002t0023g0025 a0002c0002t0024g0038 a0002c0002t0030g0118 a0002c0002t0032g0177 a0002c0002t0033g0193 a0002c0002t0034g0195 a0002c0002t0035g0199 a0002c0002t0036g0186 a0002c0002t0037g0178 a0002c0002t0038g0179 a0002c0002t0039g0176 a0002c0002t0040g0139 a0002c0002t0041g0167 a0002c0002t0063g0108 a0003c0003t0002g0041 a0003c0003t0002g0171 a0003c0003t0002g0192	124	388	0.3196	-175	c.79 others(11): Show c.7944_*8118del	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding		3170		chr20	TogoVar
RAB31_chr18_9703301_9867551	9815350	CCGTGTAG others(168): Show CCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATGCGTGTAGATGCTGT CCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGAT GCTGTCCTCCATCCCTGAGTGTCATG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	322	0.0031	-175	c.380 others(15): Show c.380+163_380+337del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB31_chr18_9703301_9867551	9815670	TAGATGCT others(168): Show TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGT CCTCCATCCCTGAGTGTCATCCGTGG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	322	0.0031	-175	c.380 others(15): Show c.380+760_380+934del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RASGEF1C_chr5_180095795_180214211	180096159	TTCCTCCC others(168): Show TTCCTCCCTTCCTGTCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTGTCT TCCTCCCTTCCTTCCCTCCTTCCCTCCCTCCCTTCCTTCCTGTCTTCCTT CCTTCCTTCCTGTCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTGTCTTC CTCCCTTCCTTCCCTCCTTCCTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0151 a0001c0004t0027g0151	1	370	0.0027	-175	c.51 others(11): Show c.5167_*5341del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding		4635		chr5	TogoVar
SCN11A_chr3_38840764_39056944	38877127	GTATATAC others(168): Show GTATATACTATATATATGGTATATATATGGTGTATATACTATATATATGG TATATATATGGTGTATATACTATATATATGGTATATATATGGTGTATATA CTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATAT ATGGTGTATATACTATATATATGGTA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0268 a0003c0010t0003g0268	1	314	0.0032	-175	c.339 others(19): Show c.3393+2648_3393+2822del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1289843	CCGTGTCC others(168): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	290	0.0035	-175	c.166 others(17): Show c.1663-426_1663-252del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4180249	TGCCCGGC others(168): Show TGCCCGGCTCCAGCTCTATGCCCAGTACCCGGCTCTAGCTCTATGCCCTG TGCCTGGCTCCAGCTCTATGCCCAGTGCCCGGCTCCAGCTCTATGCCCAG CACCCGGCTCCAGCTCTATGCCCAGCGCCTGGCTCCAGCTCTATGCCCAG CGCCTGGCTCCAGCTCTATGCCCAGC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0077 a0001c0037t0002g0077	1	116	0.0086	-175	c.509 others(19): Show c.5098+1668_5098+1842del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC63_chr6_107862756_107963208	107953472	GAAGTGAG others(168): Show GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0022 a0001c0002t0004g0022	1	332	0.0030	-175	c.124 others(17): Show c.124+4239_124+4413del	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SGCG_chr13_23175979_23330162	23204015	TTCAGGAG others(168): Show TTCAGGAGCAAAATATGTATGTAGCATTTACGTTTTTCCCTTTTCCTTAA ACCTCATTGTGAACTATAGTGTGTTGGTTTTGTGTTTTTGCTGTAATTTT TTTCATTAGTCATCTCGAAATAGTGGGAATATTGTAATAGTCTTTAGTTT GTGGTTGATTGAGTCAGGATTATTTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	354	0.0028	-175	c.195 others(15): Show c.195+127_195+301del	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	2/7			chr13	TogoVar
SHC2_chr19_411589_466033	426359	CGAGAGGC others(168): Show CGAGAGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGGGGCAGAGTCC GGGGAGGGAGGACGACACCGAGAGGGGCAGAGTCCGGGGAGGGAGGACGA CACCGAGAGAGGCAGAGTCCGGGGAGGGAGGACGACAGCACGAGAGGCAG AGTCCGGGGAGGGAGGACGACACCGA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02559.hp1 HG01361.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0133 a0001c0001t0002g0052 a0001c0001t0001g0133 a0001c0001t0002g0052	2	212	0.0094	-175	c.117 others(19): Show c.1175-1303_1175-1129del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SLC25A33_chr1_9534465_9590173	9549345	TTGGTGGG others(168): Show TTGGTGGGATCAATGGGGGGGATGAACTGATGGTGGGATCAATGGGGGAG ATGAACTGATGGTGGGATCAATGGGGGGGGATGAACTGATGGTGGGATCA ATGCGGGGGATGAACTGCTGATGGGATCAATGGCGGGGAGGAACTGATGG TGGGATCAACGGGGGGGATGAACTGA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0225 a0001c0001t0032g0225	1	362	0.0028	-175	c.57- others(15): Show c.57-4264_57-4090del	SLC25A33	ENSG00000171612.7	transcript	ENST00000302692.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(168): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCG CCATCGCCGACCCTCCCCACGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02257.hp1 others(3): Show HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02896.hp2 HG02897.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0006 a0001c0001t0001 a0002c0005t0006	a0001c0001t0001g0022 a0001c0001t0001g0155 a0001c0001t0001g0156 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0002c0005t0006g0213 a0002c0005t0006g0215	6	218	0.0275	-175	c.212 others(17): Show c.212-3481_212-3307del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SPAG17_chr1_117948590_118190228	118050787	CTTACTAG others(168): Show CTTACTAGAAGAAAACACAAGAGAAATCTCTGTCACATTGTTCTGGGCAG TGATGTTTTGAATATAACCTCAAAAGCACAGGCAACAAAAACAAAAATAG ACAAATGGCATCACGTTAGACTAAAACCTTCTGCACAACAAAGAAAACAA TCAACAAAGCGAAGAAATAACCTATG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0018 a0018	a0018c0031 a0018c0031	a0018c0031t0002 a0018c0031t0002	a0018c0031t0002g0007 a0018c0031t0002g0007	1	266	0.0038	-175	c.281 others(19): Show c.2814+3040_2814+3214del	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	20/48			chr1	TogoVar
STARD6_chr18_54319492_54362858	54343350	ACCCCGTC others(168): Show ACCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGT GCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCC CGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	350	0.0057	-175	c.141 others(17): Show c.141-6274_141-6100del	STARD6	ENSG00000174448.9	transcript	ENST00000307844.4	protein_coding	4/7			chr18	TogoVar
TMCC1_chr3_129642792_129898711	129818401	TAAGAAAC others(168): Show TAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(73): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01167.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 NA18522.hp1 NA18747.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19003.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19068.hp1 NA19090.hp1 NA19091.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0027 a0001c0002t0009 a0001c0007t0002 a0002c0003t0001 a0002c0003t0012 a0003c0005t0001	a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0051 others(73): Show a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0102 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0255 a0001c0001t0003g0118 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0004g0030 a0001c0001t0004g0193 a0001c0001t0004g0201 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0013g0192 a0001c0001t0013g0194 a0001c0001t0013g0204 a0001c0001t0014g0002 a0001c0001t0014g0014 a0001c0001t0014g0017 a0001c0001t0027g0258 a0001c0002t0009g0157 a0001c0002t0009g0158 a0001c0002t0009g0159 a0001c0002t0009g0167 a0001c0002t0009g0168 a0001c0007t0002g0146 a0002c0003t0001g0064 a0002c0003t0012g0256 a0003c0005t0001g0045	76	258	0.2946	-175	c.576 others(17): Show c.576+9227_576+9401del	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	CAGCCTCC others(168): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	94	0.0106	-175	c.129 others(21): Show c.1299+34323_1299+34497del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129855550	AACAGAGT others(168): Show AACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCC CTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCC AGGGGAACGGGATGGGTGCCCTTGTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02083.hp2 HG02647.hp1 others(2): Show HG02040.hp1 HG02083.hp2 HG02647.hp1 HG02809.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0004t0001	a0001c0001t0001g0083 a0001c0001t0005g0056 a0001c0001t0006g0067 others(2): Show a0001c0001t0001g0083 a0001c0001t0005g0056 a0001c0001t0006g0067 a0001c0001t0010g0048 a0001c0004t0001g0036	5	94	0.0532	-175	c.79+ others(17): Show c.79+47536_79+47710del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129856877	AGAGTCCG others(168): Show AGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGG GGAACGGGATGGGTGCCCTTGTAACG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0057 a0001c0004t0001g0057	1	94	0.0106	-175	c.79+ others(17): Show c.79+46209_79+46383del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857851	GGAGTCCA others(168): Show GGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAAC GGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	94	0.0106	-175	c.79+ others(17): Show c.79+45235_79+45409del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMPRSS15_chr21_18264116_18408785	18315398	AGAGTTAA others(168): Show AGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACACAATAACA AACCTGCACGTTGTGCACATGTACCGTAGAACTTAAAGTATAATAAAATA TATATATATAAAATAATAAACATGAGTCCTTTGCCACAGCTCAAGGTGGA GCTAGCTTTGATACTGAGTAAATGAC	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18964.hp1 NA18951.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0246 a0001c0001t0001g0020 a0001c0001t0001g0246	2	314	0.0064	-175	c.192 others(17): Show c.1922-317_1922-143del	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	16/24			chr21	TogoVar
TMPRSS15_chr21_18264116_18408785	18315405	ATGGGTGC others(168): Show ATGGGTGCAGCACACCAACATGGCACATGTATACACAATAACAAACCTGC ACGTTGTGCACATGTACCGTAGAACTTAAAGTATAATAAAATATATATAT ATAAAATAATAAACATGAGTCCTTTGCCACAGCTCAAGGTGGAGCTAGCT TTGATACTGAGTAAATGACGAGTTAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(165): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0015 a0017 a0018 a0019 a0020 a0021 a0024 a0026 a0031 a0034 a0035 a0037 a0040	a0001c0001 a0001c0006 a0001c0007 others(39): Show a0001c0001 a0001c0006 a0001c0007 a0001c0046 a0001c0052 a0001c0053 a0001c0063 a0002c0002 a0002c0011 a0002c0012 a0002c0045 a0003c0003 a0003c0009 a0003c0030 a0003c0038 a0004c0005 a0004c0008 a0004c0018 a0005c0004 a0006c0010 a0006c0017 a0006c0067 a0007c0021 a0008c0013 a0009c0014 a0011c0022 a0011c0044 a0012c0016 a0013c0026 a0015c0036 a0017c0032 a0018c0025 a0019c0071 a0020c0027 a0021c0070 a0024c0051 a0026c0047 a0031c0054 a0034c0065 a0035c0042 a0037c0029 a0040c0040	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(55): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0006t0001 a0001c0006t0010 a0001c0007t0002 a0001c0046t0002 a0001c0052t0002 a0001c0053t0001 a0001c0063t0002 a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0011t0002 a0002c0012t0001 a0002c0045t0002 a0003c0003t0001 a0003c0003t0002 a0003c0009t0002 a0003c0030t0008 a0003c0038t0002 a0004c0005t0001 a0004c0005t0003 a0004c0008t0001 a0004c0018t0002 a0005c0004t0001 a0005c0004t0005 a0005c0004t0007 a0006c0010t0001 a0006c0010t0011 a0006c0017t0001 a0006c0067t0002 a0007c0021t0003 a0008c0013t0001 a0008c0013t0013 a0009c0014t0001 a0009c0014t0004 a0011c0022t0001 a0011c0044t0001 a0012c0016t0001 a0013c0026t0006 a0015c0036t0002 a0017c0032t0001 a0018c0025t0002 a0019c0071t0001 a0020c0027t0003 a0021c0070t0002 a0024c0051t0006 a0026c0047t0002 a0031c0054t0001 a0034c0065t0001 a0035c0042t0001 a0037c0029t0003 a0040c0040t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0019 others(165): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0003g0291 a0001c0001t0009g0068 a0001c0001t0009g0102 a0001c0001t0010g0314 a0001c0001t0017g0051 a0001c0006t0001g0252 a0001c0006t0001g0295 a0001c0006t0001g0296 a0001c0006t0001g0306 a0001c0006t0010g0313 a0001c0007t0002g0023 a0001c0007t0002g0059 a0001c0007t0002g0194 a0001c0007t0002g0219 a0001c0007t0002g0294 a0001c0046t0002g0258 a0001c0052t0002g0065 a0001c0053t0001g0215 a0001c0063t0002g0086 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0032 a0002c0002t0001g0055 a0002c0002t0001g0149 a0002c0002t0001g0157 a0002c0002t0001g0220 a0002c0002t0001g0236 a0002c0002t0001g0273 a0002c0002t0001g0292 a0002c0002t0005g0264 a0002c0002t0006g0290 a0002c0002t0007g0078 a0002c0002t0009g0042 a0002c0011t0002g0091 a0002c0012t0001g0033 a0002c0012t0001g0218 a0002c0012t0001g0272 a0002c0045t0002g0305 a0003c0003t0001g0008 a0003c0003t0001g0072 a0003c0003t0001g0093 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0114 a0003c0003t0001g0118 a0003c0003t0001g0120 a0003c0003t0001g0123 a0003c0003t0001g0126 a0003c0003t0001g0128 a0003c0003t0001g0156 a0003c0003t0001g0293 a0003c0003t0002g0047 a0003c0009t0002g0135 a0003c0030t0008g0309 a0003c0038t0002g0152 a0004c0005t0001g0165 a0004c0005t0001g0174 a0004c0005t0001g0175 a0004c0005t0001g0178 a0004c0005t0001g0181 a0004c0005t0001g0183 a0004c0005t0001g0188 a0004c0005t0001g0189 a0004c0005t0001g0191 a0004c0005t0003g0162 a0004c0008t0001g0160 a0004c0008t0001g0185 a0004c0018t0002g0176 a0004c0018t0002g0177 a0005c0004t0001g0108 a0005c0004t0001g0112 a0005c0004t0001g0117 a0005c0004t0001g0127 a0005c0004t0001g0137 a0005c0004t0001g0140 a0005c0004t0001g0141 a0005c0004t0005g0121 a0005c0004t0005g0122 a0005c0004t0005g0133 a0005c0004t0005g0134 a0005c0004t0005g0144 a0005c0004t0007g0139 a0006c0010t0001g0163 a0006c0010t0001g0166 a0006c0010t0001g0169 a0006c0010t0001g0172 a0006c0010t0001g0180 a0006c0010t0011g0159 a0006c0017t0001g0184 a0006c0067t0002g0173 a0007c0021t0003g0058 a0007c0021t0003g0063 a0008c0013t0001g0074 a0008c0013t0013g0081 a0009c0014t0001g0056 a0009c0014t0004g0057 a0011c0022t0001g0053 a0011c0044t0001g0083 a0012c0016t0001g0041 a0012c0016t0001g0044 a0013c0026t0006g0276 a0013c0026t0006g0277 a0015c0036t0002g0085 a0017c0032t0001g0308 a0018c0025t0002g0005 a0018c0025t0002g0006 a0019c0071t0001g0312 a0020c0027t0003g0001 a0021c0070t0002g0278 a0024c0051t0006g0066 a0026c0047t0002g0274 a0031c0054t0001g0244 a0034c0065t0001g0261 a0035c0042t0001g0268 a0037c0029t0003g0092 a0040c0040t0001g0101	168	314	0.5350	-175	c.192 others(17): Show c.1922-324_1922-150del	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	16/24			chr21	TogoVar
TOP1MT_chr8_143304324_143339880	143307890	GCGTGGCA others(168): Show GCGTGGCAGAGGAGAGGGCGGCAGAGGTTCCCGCGTGGCAGAGGAGAGGG CGGCAGAGGGTCCCGCGTGGCAGAGAAGAGGGCGGCAGAGGAGAGGGCGG CAGAGGAGAGGGCGGCAGAGGGTCCCGCATGGCAGAGGATCCCACGTGGC AGAGAAGAGGGCAGCAGAGGATCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	430	0.0023	-175	c.13 others(11): Show c.1376_*1550del	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		1433		chr8	TogoVar
TTLL8_chr22_50013575_50063298	50028656	CATCCTAA others(168): Show CATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACC CCCACATACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCCATCACGCT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA20752.hp1 HG01070.hp1 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0006c0006t0002 a0001c0001t0002 a0006c0006t0002	a0001c0001t0002g0064 a0006c0006t0002g0041 a0001c0001t0002g0064 a0006c0006t0002g0041	2	224	0.0089	-175	c.225 others(19): Show c.2251+1599_2251+1773del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TYMS_chr18_652653_678578	667281	GATGGTGA others(168): Show GATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGA TGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATG GTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGA GATGGTGATGGTGATGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	482	0.0021	-175	c.455 others(17): Show c.455-1790_455-1616del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6			chr18	TogoVar
VAPB_chr20_58384229_58456101	58414004	CCCCGCCA others(168): Show CCCCGCCACCTCCCTCCCAGATAGGGCGGCTGGCCTGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGAGGCTGACGCCCCGACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02129.hp1 HG04184.hp2 HG01346.hp2 HG02129.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0146 a0001c0001t0002g0005 a0001c0001t0002g0146	3	370	0.0081	-175	c.59- others(15): Show c.59-4203_59-4029del	VAPB	ENSG00000124164.16	transcript	ENST00000475243.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
VAV1_chr19_6767708_6862361	6778931	CAGTGGTA others(168): Show CAGTGGTATGATCACAGCTCACTGCAGCCTCGAACTCCTGTACTCAAGCA GTCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCGG CATACCTGGGTGATTTTTTTGTTTGTCTGTCTGTTTTCTGAGACAGGGTC TCAATCTGTCACCCAAGCTGGAGTAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02922.hp1 others(9): Show HG02257.hp2 HG02572.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp1 NA18522.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0008 a0004c0011 a0001c0001 a0003c0008 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 a0004c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0211 a0001c0001t0001g0306 a0001c0001t0002g0041 a0003c0008t0001g0018 a0004c0011t0001g0008	12	306	0.0392	-175	c.204 others(17): Show c.204+5961_204+6135del	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF100_chr19_21717771_21772579	21721389	TCCTCTGC others(168): Show TCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCC AGCCGCCCAGTCCGGGAGGGAGGTGGAGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0114 a0001c0002t0047g0114	1	365	0.0027	-175	c.51 others(11): Show c.5119_*5293del	ZNF100	ENSG00000197020.12	transcript	ENST00000358296.11	protein_coding		1381		chr19	TogoVar
ZNF117_chr7_64966772_64996036	64967834	GGGGGGCT others(168): Show GGGGGGCTGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCA GAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGTCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	444	0.0023	-175	c.10 others(13): Show c.10110_*10284del	ZNF117	ENSG00000152926.16	transcript	ENST00000282869.11	protein_coding		3937		chr7	TogoVar
ZNF512B_chr20_63951704_63974930	63964927	TGACCTGG others(168): Show TGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTG GGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGGGACGAG CCCCCATACCTTTTCTCACCACTGTTCCTCCCCGACCTGGGACGAGCCCC CATACCTTTTCTCACCACTGTTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	356	0.0028	-175	c.103 others(17): Show c.1035-386_1035-212del	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF516_chr18_76352682_76500242	76392554	GCCACGTG others(168): Show GCCACGTGGGGGAAAGGTGGATGGGAAGGCAGGTGGCCGGGTGGGGGAAG GGCAGGTGGGAAGACAAGTGGCCAGGTGGAGGGAGGGCAGGCGGGAAGGC AGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGGCAGGTGACCAGGTGGG GGAAAGGTGGATGGGAAGGCAGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0284 a0001c0001t0042g0284	1	346	0.0029	-175	c.181 others(21): Show c.1811-12426_1811-12252del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF584_chr19_58403649_58423327	58405224	CCCCCCAC others(168): Show CCCCCCACCTCCCTTCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAAGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCATCTCCCGGACAG GGCGGCTGGCCGGGTGGGGGACTGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG03688.hp1 HG01261.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0045 a0002c0002t0002g0002 a0002c0002t0002g0045	2	426	0.0047	-175	c.-39 others(11): Show c.-3923_-3749del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding		3424		chr19	TogoVar
ZNF584_chr19_58403649_58423327	58405272	CCCCCCCA others(168): Show CCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAAGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCATCTCCCGGAC AGGGCGGCTGGCCGGGTGGGGGACTGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG03225.hp2 HG01261.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0280 a0002c0002t0005g0285 a0002c0002t0005g0280 a0002c0002t0005g0285	2	426	0.0047	-175	c.-38 others(11): Show c.-3875_-3701del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding		3376		chr19	TogoVar
ZNF77_chr19_2928218_2949971	2939064	TCCTTACC others(168): Show TCCTTACCCAAGGAGGCAGTGAGGGAATGACGCCACCCTTACCCAAGGAG GCAGTGAGGGAATGACGCCACCCTTACCCAAGGAGGCAGTGAGGGAATGA CGCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACGCCACCCTTACCCA AGGAGGCAGTGAGGGAATGACGCCAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0391 a0001c0001t0001g0391	1	448	0.0022	-175	c.130 others(14): Show c.130+42_130+216del	ZNF77	ENSG00000175691.9	transcript	ENST00000314531.5	protein_coding	2/3			chr19	TogoVar
ZNF789_chr7_99467890_99492605	99472063	ATTCTCCT others(168): Show ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCACTACAGGCACGCCGCCA CCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCAATCTCGGCTCACCGC AACCTCCGCCTCCCGGGTTCAAGCGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	334	0.0030	-175	c.-10 others(10): Show c.-1047_-873del	ZNF789	ENSG00000198556.14	transcript	ENST00000331410.10	protein_coding		826		chr7	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235098	CGGTGGGC others(168): Show CGGTGGGCCAAGCCTCCACTCCAACCTCTGATGGACGGTGGGCCAAGCCT CCACTCCAGCCTCTGATTGACCGTGGGCCAAGTCTCCACTCCAGCCTCTG ATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACCGTGGGCCA AGTCTCCACTCCAGCCTCTGATGGAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 NA18906.hp1 others(1): Show HG02559.hp1 HG02886.hp1 NA18906.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0003c0004t0001 a0001c0001t0001 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0146 a0001c0001t0001g0347 a0001c0003t0001g0081 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0347 a0001c0003t0001g0081 a0003c0004t0001g0180	4	362	0.0111	-175	c.-12 others(20): Show c.-127-10100_-127-9926del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar

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