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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RFX7_chr15_56082280_56248879	56110408	CGGGGGAG others(165): Show CGGGGGAGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GCGAGGGGAGCCTCTGCCCTGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCGCCCGGCCAGCCACCCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	360	0.0028	-172	c.402 others(17): Show c.402-6910_402-6739del		RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9						chr15	TogoVar
RFX8_chr2_101392359_101480112	101452978	GCCTGTAG others(165): Show GCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGCTACTAGGGAG GCTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCA CTCCATCCTGGTGACAGAGCGAGACTCCATCTCAAAACAAACAAACAAAC TTAGCCAGGCATGGTGGCACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00735.hp1 others(103): Show HG00099.hp2 HG00544.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18983.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19077.hp2 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0017	a0001c0001 a0001c0015 a0002c0002 others(10): Show a0001c0001 a0001c0015 a0002c0002 a0003c0003 a0006c0011 a0008c0009 a0009c0006 a0010c0007 a0011c0014 a0013c0016 a0014c0017 a0015c0012 a0017c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0003c0003t0001 a0003c0003t0002 a0006c0011t0001 a0008c0009t0001 a0008c0009t0002 a0009c0006t0001 a0010c0007t0006 a0011c0014t0001 a0013c0016t0002 a0014c0017t0001 a0015c0012t0001 a0017c0024t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0107 others(91): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0107 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0174 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0003g0098 a0001c0015t0001g0185 a0002c0002t0001g0006 a0002c0002t0001g0019 a0002c0002t0001g0152 a0002c0002t0001g0191 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0221 a0002c0002t0001g0233 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0263 a0002c0002t0001g0266 a0002c0002t0001g0304 a0002c0002t0002g0029 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0073 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0005g0022 a0003c0003t0001g0153 a0003c0003t0001g0189 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0235 a0003c0003t0002g0030 a0006c0011t0001g0018 a0006c0011t0001g0183 a0008c0009t0001g0182 a0008c0009t0002g0032 a0009c0006t0001g0158 a0009c0006t0001g0164 a0009c0006t0001g0165 a0010c0007t0006g0106 a0011c0014t0001g0188 a0013c0016t0002g0065 a0013c0016t0002g0083 a0014c0017t0001g0186 a0015c0012t0001g0175 a0015c0012t0001g0177 a0017c0024t0001g0184	106	352	0.3011	-172	c.72+ others(17): Show c.72+13627_72+13798del		RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	2/11						chr2	TogoVar
RTF1_chr15_41412095_41488563	41468186	TAATAACG others(165): Show TAATAACGTGTTCTGTCCTAGTAGCCACTGATGGTCATTACCTAGATAAT TTAATTCATTAGGAGTTGCAAAATGGTGATATTTCGAATCTGTCATTCTT TCCTCATTCATTATCTAGCCTGCTTCTATAAAGAGAAACCTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02451.hp2 HG03195.hp2 HG01496.hp1 HG02451.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0200 a0001c0001t0011g0201 a0001c0001t0011g0202 a0001c0001t0011g0200 a0001c0001t0011g0201 a0001c0001t0011g0202	3	226	0.0133	-172	c.889 others(17): Show c.889+1935_890-1899del		RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	6/17						chr15	TogoVar
RWDD4_chr4_183634635_183664185	183642199	TTTTTTTT others(165): Show TTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCTACCACGC CCGGCTAATTTTTTGTATTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00544.hp2 others(145): Show HG00140.hp1 HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0003t0002 a0001c0003t0016 a0001c0003t0023 a0001c0004t0002 a0001c0004t0006 a0001c0004t0015 a0001c0005t0002 a0001c0005t0003 a0001c0010t0003	a0001c0001t0002g0199 a0001c0001t0002g0275 a0001c0001t0002g0341 others(128): Show a0001c0001t0002g0199 a0001c0001t0002g0275 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0381 a0001c0001t0002g0399 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0013 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0041 a0001c0001t0003g0045 a0001c0001t0003g0048 a0001c0001t0003g0074 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0099 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0120 a0001c0001t0003g0131 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0177 a0001c0001t0003g0182 a0001c0001t0003g0190 a0001c0001t0003g0200 a0001c0001t0003g0244 a0001c0001t0003g0261 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0274 a0001c0001t0003g0282 a0001c0001t0003g0289 a0001c0001t0003g0291 a0001c0001t0003g0304 a0001c0001t0003g0338 a0001c0001t0003g0349 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0003g0365 a0001c0001t0003g0368 a0001c0001t0003g0369 a0001c0001t0003g0382 a0001c0001t0003g0387 a0001c0001t0003g0413 a0001c0001t0012g0432 a0001c0001t0012g0439 a0001c0001t0013g0238 a0001c0001t0014g0376 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0011 a0001c0003t0002g0021 a0001c0003t0002g0026 a0001c0003t0002g0028 a0001c0003t0002g0043 a0001c0003t0002g0044 a0001c0003t0002g0050 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0098 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0165 a0001c0003t0002g0171 a0001c0003t0002g0185 a0001c0003t0002g0186 a0001c0003t0002g0191 a0001c0003t0002g0201 a0001c0003t0002g0228 a0001c0003t0002g0232 a0001c0003t0002g0235 a0001c0003t0002g0239 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0254 a0001c0003t0002g0260 a0001c0003t0002g0265 a0001c0003t0002g0276 a0001c0003t0002g0281 a0001c0003t0002g0321 a0001c0003t0002g0323 a0001c0003t0002g0324 a0001c0003t0002g0325 a0001c0003t0002g0346 a0001c0003t0002g0347 a0001c0003t0002g0350 a0001c0003t0002g0366 a0001c0003t0002g0373 a0001c0003t0002g0374 a0001c0003t0002g0394 a0001c0003t0002g0397 a0001c0003t0002g0398 a0001c0003t0002g0411 a0001c0003t0016g0320 a0001c0003t0023g0436 a0001c0004t0002g0037 a0001c0004t0002g0053 a0001c0004t0002g0055 a0001c0004t0002g0058 a0001c0004t0002g0061 a0001c0004t0002g0063 a0001c0004t0002g0064 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0073 a0001c0004t0002g0421 a0001c0004t0002g0422 a0001c0004t0002g0423 a0001c0004t0002g0425 a0001c0004t0002g0427 a0001c0004t0006g0067 a0001c0004t0006g0426 a0001c0004t0006g0429 a0001c0004t0015g0428 a0001c0005t0002g0051 a0001c0005t0002g0052 a0001c0005t0002g0060 a0001c0005t0002g0066 a0001c0005t0003g0059 a0001c0005t0003g0062 a0001c0005t0003g0070 a0001c0010t0003g0290	148	480	0.3083	-172	c.535 others(15): Show c.535-903_535-732del		RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7						chr4	TogoVar
SCN9A_chr2_166190185_166380944	166201423	ATATACTA others(165): Show ATATACTATATATAGTATAGAGTATGCGTATACTATATATATAGTATAGA GTATGCGTATACTATATATATAGTATAGAGTATGCGTATACTATATATAT AGTATAGAGTATGCGTATACTATATATATAGTATAGAGTATGCGTATACT ATATATATAGTATAGAGTATGCG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02818.hp1 others(4): Show HG01168.hp2 HG01169.hp2 HG02818.hp1 HG03516.hp1 HG03710.hp1 HG04184.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0022 others(1): Show a0001c0001 a0001c0003 a0001c0022 a0001c0026	a0001c0001t0015 a0001c0003t0015 a0001c0022t0008 others(1): Show a0001c0001t0015 a0001c0003t0015 a0001c0022t0008 a0001c0026t0008	a0001c0001t0015g0149 a0001c0003t0015g0063 a0001c0022t0008g0106 others(4): Show a0001c0001t0015g0149 a0001c0003t0015g0063 a0001c0022t0008g0106 a0001c0022t0008g0107 a0001c0022t0008g0185 a0001c0026t0008g0122 a0001c0026t0008g0267	7	296	0.0237	-172	c.477 others(19): Show c.4775-1731_4775-1560del		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26						chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288921	TCCCCCGT others(165): Show TCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	290	0.0035	-172	c.166 others(18): Show c.1662+888_1662+1059del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SFXN4_chr10_119135767_119170714	119170468	GTAACTGC others(165): Show GTAACTGCAAAATTAGTGAGTTCTCATAGGGAAAGGGACCGTAGGAGAAA AATAGCCAGTACCCTTTCTCTGGCCATTGACAATTCTGAAAGACCTAGGC ATTCGTTTGATAATCTCTTTAAAGTTTAAAAAAAAAAAAATGGTCTGCCA GGTGCGGTGGCTCATGCCTGTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	432	0.0023	-172	c.-49 others(11): Show c.-4993_-4822del		SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding					4755		chr10	TogoVar
SKI_chr1_2223319_2315213	2281059	CGGCGGCG others(165): Show CGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGA GATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGA GGACGCCCGAGAAGACAGGCGGT	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	330	0.0030	-172	c.970 others(19): Show c.970-21913_970-21742del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281395	AGACAGGC others(165): Show AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT GGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATC TTCATAGAGAGGACGCCCGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01169.hp2 HG03834.hp1 others(1): Show HG00544.hp1 HG01169.hp2 HG03834.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0129 a0001c0001t0002g0154 a0001c0001t0002g0318 others(1): Show a0001c0001t0002g0129 a0001c0001t0002g0154 a0001c0001t0002g0318 a0001c0001t0006g0324	4	330	0.0121	-172	c.970 others(19): Show c.970-21549_970-21378del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281472	CGCCCGAG others(165): Show CGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGA GAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGAT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0128 a0001c0001t0079g0128	1	330	0.0030	-172	c.970 others(19): Show c.970-21497_970-21326del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281777	CGAGAAGA others(165): Show CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0298 a0001c0001t0016g0298	1	330	0.0030	-172	c.970 others(19): Show c.970-21153_970-20982del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A18_chr11_2897278_2930246	2921534	TGGGAGCA others(165): Show TGGGAGCAGCCTGCGGCCAAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAG CCTGTCCCACCGAGCCCATCCCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp2 HG02647.hp1 others(3): Show HG01346.hp2 HG02055.hp2 HG02647.hp1 HG02809.hp2 HG03579.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0002c0003 others(1): Show a0001c0008 a0002c0002 a0002c0003 a0002c0021	a0001c0008t0001 a0002c0002t0001 a0002c0003t0001 others(1): Show a0001c0008t0001 a0002c0002t0001 a0002c0003t0001 a0002c0021t0001	a0001c0008t0001g0176 a0002c0002t0001g0065 a0002c0002t0001g0115 others(3): Show a0001c0008t0001g0176 a0002c0002t0001g0065 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0003t0001g0163 a0002c0021t0001g0096	6	405	0.0148	-172	c.865 others(15): Show c.865-550_865-379del		SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	AAGCCTGT others(165): Show AAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACC GAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0001 a0012c0028t0001	a0012c0028t0001g0073 a0012c0028t0001g0073	1	405	0.0025	-172	c.865 others(15): Show c.865-436_865-265del		SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A31_chr16_89190761_89205537	89192630	ACCAGCCA others(165): Show ACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCC CCTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAAC CCCGCCCCCTCATTACCAGCCTCGCCGCTTCCTCCCCAGCTCCGCCTCCT CCCTAACCCCGCCCCCTCATTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0008 a0004c0009t0001g0008	1	428	0.0023	-172	c.31 others(11): Show c.3197_*3368del		SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding					3130		chr16	TogoVar
SLC22A31_chr16_89190761_89205537	89192665	TCCCTAAC others(165): Show TCCCTAACCCCGCCCCCTCATTACCAGCCACGCCGCTTCCTCCCCAGCTC CGCCTCCTCCCTAACCCCGCCCCCTCATTACCAGCCTCGCCGCTTCCTCC CCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATTACCAGCCTCGCCGC TTCCTCCCCAGCTCCTCCTCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	428	0.0023	-172	c.31 others(11): Show c.3162_*3333del		SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding					3095		chr16	TogoVar
SLX9_chr21_44935029_44981973	44973423	GTTCAGCT others(165): Show GTTCAGCTCCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGC TCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGATTCAGCTCCTGAG TGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTATGTGCCCTC GCCCCGCCCACCCTCTCCAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	334	0.0030	-172	c.569 others(15): Show c.569+169_569+340del		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44973435	TGTGCCCT others(165): Show TGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCC TCACCCCGCCCACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCC GCCCACCCTCTCCAGGGGTTCAGCTCCTATGTGCCCTCGCCCCGCCCACC CTCTCCAGGGATTCAGCTCCTGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(28): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 NA18961.hp2 NA18966.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0020 others(21): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0185 a0001c0001t0001g0202 a0001c0001t0001g0233	31	334	0.0928	-172	c.569 others(15): Show c.569+212_569+383del		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
SMARCB1_chr22_23781966_23843009	23799581	CGGCTCAC others(165): Show CGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCT GCCTCCTGAGTAGCTGAGATTACAGGTTCCTGCCATCACACCTGGCTAAT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTCCCACT CTGGAGTGCAGTGGCGCAATGTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0349 a0001c0001t0009g0349	1	363	0.0028	-172	c.363 others(17): Show c.363-1350_363-1179del		SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
SMOC2_chr6_168436184_168672992	168614175	GGGCCTCT others(165): Show GGGCCTCTTCACACCTACAGCCAGCACAGAGCCTCTTCACACCTACAGCC AGCACATGGAGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTTATAC CTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCT TCATACCTACAGCCAGCACAGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	180	0.0056	-172	c.907 others(17): Show c.907+5937_907+6108del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12						chr6	TogoVar
SNAP25_chr20_10213830_10312418	10257628	TTGAACCC others(165): Show TTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAC TCCAGCCTGGTCAACAAGAGCGAAACTCCGTCTCAAAAACAAAACAAAAC AAAAAAATTAGCCAGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAG GAGGCTGAGGCAGGAGAATTGCA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03195.hp2 HG02257.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0320 a0001c0001t0004g0298 a0001c0001t0001g0320 a0001c0001t0004g0298	2	340	0.0059	-172	c.-63 others(19): Show c.-63-17769_-63-17598del		SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr20	TogoVar
TAFA5_chr22_48484553_48756932	48497937	GAGGCGGG others(165): Show GAGGCGGGGCTGAAGAGTGGGGTGGGGCCCACCTGGAGGCGGGGCTGAAG AGTGGGGTGGGGCCCACCTGGAGGCGGGGCTGAAGAGTGGGCTGAGGGTA GGAGAGGCTGCAAGCCTAGGGGTGGGGCTGCAAGCCTGGGGGCGGGGCTG AAGGGGCAGGGCTGGGGGCCTGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp1 others(65): Show HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG01167.hp2 HG01261.hp2 HG01943.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03831.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp1 NA18971.hp1 NA18972.hp2 NA18980.hp1 NA18994.hp2 NA19002.hp2 NA19009.hp1 NA19030.hp1 NA19060.hp2 NA19065.hp1 NA19074.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0037	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0097 others(65): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0157 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0195 a0001c0001t0002g0237 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0160 a0001c0001t0003g0250 a0001c0001t0004g0016 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0027 a0001c0001t0005g0244 a0001c0001t0005g0246 a0001c0001t0007g0023 a0001c0001t0007g0031 a0001c0001t0007g0155 a0001c0001t0009g0152 a0001c0001t0010g0242 a0001c0001t0013g0163 a0001c0001t0015g0005 a0001c0001t0015g0013 a0001c0001t0017g0029 a0001c0001t0018g0028 a0001c0001t0020g0032 a0001c0001t0028g0018 a0001c0001t0029g0026 a0001c0001t0032g0033 a0001c0001t0037g0154	68	258	0.2636	-172	c.112 others(17): Show c.112+8289_112+8460del		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47021115	AAGCCCTG others(165): Show AAGCCCTGAGCAGGGAACCTAGCAGAACTCCACCTGTAGCCTGGAGCCCT GAGCAGGGAACCTAGCAGAACTCCACCTGTAGCCTGGAGCCCTGAGCAGG GAACCTAGCAGAACCCTACCTGTAGCCTGGAGCCCTGAGCAGGGAACCTA GCAGAACCCCACCTGTAGCCTGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0011 a0001c0002t0005g0011	1	112	0.0089	-172	c.120 others(21): Show c.1202-15928_1202-15757del		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628534	GTGAGGCG others(165): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGG ACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAG GGGACAGCAGAGCTCACAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	2	352	0.0057	-172	c.299 others(17): Show c.299-1280_299-1109del		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TEX29_chr13_111315642_111349248	111340823	CATAACCC others(165): Show CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CGTGTTTAGTGAGCATCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAAAATA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0164	1	416	0.0024	-172	c.239 others(16): Show c.239+956_239+1127del		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
TFB1M_chr6_155251134_155319484	155305214	ATATATTT others(165): Show ATATATTTATATATATATATTAAATTATATATTTATATATATATTAAATT ATATATTTATATATATATATTAAATTATATATTTATATATATAAACATAT ATTAAATTATATATTTATATATATAAATATATATTAAATTGTATATTTAT ATATATAAATATATATTAAATTG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp2 HG01167.hp2 others(10): Show HG00733.hp2 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG02300.hp2 HG02717.hp2 HG02738.hp1 NA18954.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0007 a0001c0001t0001 a0001c0001t0004 a0001c0002t0007	a0001c0001t0001g0169 a0001c0001t0004g0168 a0001c0001t0004g0170 others(10): Show a0001c0001t0001g0169 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0180 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0002t0007g0163	13	348	0.0374	-172	c.285 others(17): Show c.285+5802_285+5973del		TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6						chr6	TogoVar
TMEM179B_chr11_62782402_62795400	62784300	TTCTTAAT others(165): Show TTCTTAATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGACACCCAG GCTGGAGTCCAGTGGCGCCATCTTGGCTAACTGCAACCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGAGTAGCTGGGACTACAG GCGCCCGCCACCATGCCCGGCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	398	0.0025	-172	c.-31 others(11): Show c.-3131_-2960del		TMEM179B	ENSG00000185475.11	transcript	ENST00000333449.9	protein_coding					3101		chr11	TogoVar
TMEM98_chr17_32923153_32949315	32928771	GAAACATT others(165): Show GAAACATTCAGTTCACACACACTCAGAAACACACGCACTCAGAAGCACAC AAGATAAACACTCAGCTCACACACAGAAGCACACTCAGAAACATTCAGTT CACACACACTCAGAAACACACGCACTCAGAGGCACACAAGATAAACACTC AGCTCACACACAGAAGCACACTC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01109.hp1 others(10): Show HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01243.hp1 HG01884.hp2 HG02055.hp2 HG02818.hp2 HG02965.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0013 a0001c0002t0016 a0001c0001t0009 a0001c0001t0013 a0001c0002t0016	a0001c0001t0009g0017 a0001c0001t0009g0052 a0001c0001t0013g0025 others(2): Show a0001c0001t0009g0017 a0001c0001t0009g0052 a0001c0001t0013g0025 a0001c0001t0013g0053 a0001c0002t0016g0016	13	402	0.0323	-172	c.-13 others(17): Show c.-131+568_-131+739del		TMEM98	ENSG00000006042.12	transcript	ENST00000579849.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
TMPRSS15_chr21_18264116_18408785	18315498	TATATATA others(165): Show TATATATATAAAATAATAAACATGAGTCCTTTGCCACAGCTCAAGGTGGA GCTAGCTTTGATACTGAGTAAATGACGAGTTAGTGGGTGCAGCACACCAA CATGGCACATGTATACACATATAACAAACCTGCACGTTGTGCACATGTAC CGTAGAACTTAAAGTATAATAAA	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	314	0.0032	-172	c.192 others(17): Show c.1922-414_1922-243del		TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	16/24						chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474349	GGGTGAGT others(165): Show GGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGA GGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGG GGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGA GGAGGTGAGGGGGTGAGTGAGGA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0375 a0002c0006t0001g0375	1	382	0.0026	-172	c.728 others(16): Show c.728-1025_728-854del		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TNC_chr9_115014575_115123157	115095532	ATATGTAT others(165): Show ATATGTATATATATGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATATGTATATATGTATATATATATGTAT ATATATGTATATATATATGTATATATATGTATATATATATGTATATATAT GTATATATATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0051 a0051	a0051c0097 a0051c0097	a0051c0097t0002 a0051c0097t0002	a0051c0097t0002g0186 a0051c0097t0002g0186	1	366	0.0027	-172	c.-13 others(19): Show c.-136-4550_-136-4379del		TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27						chr9	TogoVar
TOP1MT_chr8_143304324_143339880	143307973	GGCAGAGG others(165): Show GGCAGAGGAGAGGGCGGCAGAGGAGAGGGCGGCAGAGGGTCCCGCATGGC AGAGGATCCCACGTGGCAGAGAAGAGGGCAGCAGAGGATCCCACGTGGCA GAGGAGAGGGCGGCAGAGGGTCCCGTGTGGCAGAGAGGGCGGCAGAGGGT CCCACGTGGCAGAGAAGAGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	430	0.0023	-172	c.12 others(11): Show c.1296_*1467del		TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding					1350		chr8	TogoVar
TRPM4_chr19_49152792_49216836	49167668	CTCTGGGT others(165): Show CTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCCATCTCTCTGG GTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCT GTCCCCATCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCC GTCTCTCTGGGTCTCTGTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02258.hp1 HG02970.hp2 others(5): Show HG01346.hp2 HG02258.hp1 HG02970.hp2 HG03139.hp1 HG03471.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0007t0001 a0001c0007t0004 others(1): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0004 a0001c0008t0001	a0001c0001t0001g0292 a0001c0001t0001g0310 a0001c0007t0001g0282 others(5): Show a0001c0001t0001g0292 a0001c0001t0001g0310 a0001c0007t0001g0282 a0001c0007t0004g0132 a0001c0007t0004g0133 a0001c0008t0001g0085 a0001c0008t0001g0291 a0001c0008t0001g0293	8	312	0.0256	-172	c.268 others(14): Show c.268-245_268-74del		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr19	TogoVar
USH2A_chr1_215617891_216428448	216011962	TCACGCTT others(165): Show TCACGCTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC CAGTAGCTGGGACTACAGGCGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01069.hp2 others(43): Show HG00140.hp1 HG00140.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(43): Show a0001 a0003 a0005 a0006 a0010 a0012 a0014 a0017 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0034 a0036 a0037 a0039 a0040 a0041 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0051 a0052 a0053 a0056 a0058 a0060 a0061 a0064 a0066 a0067 a0068 a0071	a0001c0071 a0003c0050 a0005c0066 others(43): Show a0001c0071 a0003c0050 a0005c0066 a0006c0051 a0010c0065 a0012c0061 a0014c0068 a0017c0069 a0019c0067 a0020c0057 a0021c0070 a0023c0064 a0024c0063 a0025c0073 a0026c0041 a0027c0043 a0028c0022 a0029c0035 a0030c0033 a0031c0034 a0032c0047 a0034c0031 a0036c0044 a0037c0030 a0039c0029 a0040c0046 a0041c0032 a0043c0021 a0044c0008 a0045c0009 a0046c0040 a0047c0004 a0048c0019 a0049c0045 a0051c0018 a0052c0038 a0053c0017 a0056c0012 a0058c0011 a0060c0037 a0061c0036 a0064c0028 a0066c0027 a0067c0013 a0068c0025 a0071c0005	a0001c0071t0001 a0003c0050t0001 a0005c0066t0002 others(43): Show a0001c0071t0001 a0003c0050t0001 a0005c0066t0002 a0006c0051t0001 a0010c0065t0004 a0012c0061t0002 a0014c0068t0001 a0017c0069t0001 a0019c0067t0001 a0020c0057t0001 a0021c0070t0001 a0023c0064t0001 a0024c0063t0001 a0025c0073t0001 a0026c0041t0004 a0027c0043t0002 a0028c0022t0001 a0029c0035t0001 a0030c0033t0001 a0031c0034t0003 a0032c0047t0003 a0034c0031t0002 a0036c0044t0002 a0037c0030t0001 a0039c0029t0007 a0040c0046t0004 a0041c0032t0005 a0043c0021t0005 a0044c0008t0002 a0045c0009t0008 a0046c0040t0001 a0047c0004t0012 a0048c0019t0009 a0049c0045t0006 a0051c0018t0003 a0052c0038t0001 a0053c0017t0002 a0056c0012t0002 a0058c0011t0001 a0060c0037t0001 a0061c0036t0001 a0064c0028t0003 a0066c0027t0002 a0067c0013t0001 a0068c0025t0001 a0071c0005t0002	a0001c0071t0001g0058 a0003c0050t0001g0060 a0005c0066t0002g0049 others(43): Show a0001c0071t0001g0058 a0003c0050t0001g0060 a0005c0066t0002g0049 a0006c0051t0001g0065 a0010c0065t0004g0074 a0012c0061t0002g0066 a0014c0068t0001g0053 a0017c0069t0001g0057 a0019c0067t0001g0055 a0020c0057t0001g0064 a0021c0070t0001g0052 a0023c0064t0001g0051 a0024c0063t0001g0056 a0025c0073t0001g0054 a0026c0041t0004g0026 a0027c0043t0002g0047 a0028c0022t0001g0002 a0029c0035t0001g0025 a0030c0033t0001g0037 a0031c0034t0003g0045 a0032c0047t0003g0017 a0034c0031t0002g0029 a0036c0044t0002g0073 a0037c0030t0001g0048 a0039c0029t0007g0043 a0040c0046t0004g0016 a0041c0032t0005g0032 a0043c0021t0005g0003 a0044c0008t0002g0021 a0045c0009t0008g0001 a0046c0040t0001g0034 a0047c0004t0012g0020 a0048c0019t0009g0011 a0049c0045t0006g0028 a0051c0018t0003g0012 a0052c0038t0001g0044 a0053c0017t0002g0024 a0056c0012t0002g0005 a0058c0011t0001g0046 a0060c0037t0001g0033 a0061c0036t0001g0027 a0064c0028t0003g0041 a0066c0027t0002g0042 a0067c0013t0001g0023 a0068c0025t0001g0040 a0071c0005t0002g0022	46	74	0.6216	-172	c.632 others(21): Show c.6326-11572_6326-11401del		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	32/71						chr1	TogoVar
WDR37_chr10_1051385_1137372	1117955	CTGCACAC others(165): Show CTGCACACATCTGAGCCGCGTGCACTCAGCCACCCTCAGCCAGCCCTACT TGAAGTCCCTGCACACATCTGAGCCGTGTGCACTCAGCCACCCTCAGCCA GCTCTGTTTGAAGTCCCTGCACGCATCTGAGCCAGGTGCACTCAGCCACC CTCAGCCAGCTGTTTGAAGTCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0003t0009 a0001c0005t0008 a0002c0002t0004 a0002c0002t0022 a0003c0004t0001	a0001c0001t0001g0047 a0001c0001t0001g0155 a0001c0001t0001g0156 others(345): Show a0001c0001t0001g0047 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0312 a0001c0001t0001g0360 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0003g0050 a0001c0001t0003g0159 a0001c0001t0003g0194 a0001c0001t0003g0206 a0001c0001t0003g0211 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0294 a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0314 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0004g0179 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0196 a0001c0001t0004g0203 a0001c0001t0004g0207 a0001c0001t0004g0212 a0001c0001t0004g0237 a0001c0001t0004g0242 a0001c0001t0004g0266 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0287 a0001c0001t0005g0005 a0001c0001t0005g0009 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0030 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0006g0323 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0006g0326 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0006g0329 a0001c0001t0006g0332 a0001c0001t0006g0337 a0001c0001t0006g0338 a0001c0001t0006g0339 a0001c0001t0006g0340 a0001c0001t0006g0342 a0001c0001t0007g0048 a0001c0001t0007g0171 a0001c0001t0007g0178 a0001c0001t0007g0244 a0001c0001t0007g0276 a0001c0001t0007g0300 a0001c0001t0007g0303 a0001c0001t0007g0306 a0001c0001t0007g0307 a0001c0001t0007g0317 a0001c0001t0007g0347 a0001c0001t0007g0348 a0001c0001t0008g0160 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0008g0169 a0001c0001t0008g0183 a0001c0001t0008g0187 a0001c0001t0008g0235 a0001c0001t0008g0238 a0001c0001t0008g0264 a0001c0001t0008g0267 a0001c0001t0008g0288 a0001c0001t0009g0077 a0001c0001t0009g0143 a0001c0001t0009g0145 a0001c0001t0009g0148 a0001c0001t0009g0149 a0001c0001t0009g0172 a0001c0001t0009g0173 a0001c0001t0009g0174 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0010g0002 a0001c0001t0010g0013 a0001c0001t0010g0014 a0001c0001t0010g0015 a0001c0001t0010g0016 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0010g0019 a0001c0001t0010g0023 a0001c0001t0010g0040 a0001c0001t0011g0001 a0001c0001t0011g0330 a0001c0001t0011g0331 a0001c0001t0011g0333 a0001c0001t0011g0334 a0001c0001t0011g0335 a0001c0001t0011g0341 a0001c0001t0012g0085 a0001c0001t0012g0126 a0001c0001t0012g0134 a0001c0001t0012g0137 a0001c0001t0012g0138 a0001c0001t0012g0139 a0001c0001t0012g0141 a0001c0001t0012g0142 a0001c0001t0013g0200 a0001c0001t0013g0218 a0001c0001t0013g0219 a0001c0001t0013g0220 a0001c0001t0013g0231 a0001c0001t0013g0249 a0001c0001t0013g0277 a0001c0001t0013g0344 a0001c0001t0014g0083 a0001c0001t0014g0086 a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0014g0106 a0001c0001t0014g0123 a0001c0001t0014g0127 a0001c0001t0016g0020 a0001c0001t0016g0024 a0001c0001t0016g0028 a0001c0001t0016g0032 a0001c0001t0016g0041 a0001c0001t0016g0042 a0001c0001t0017g0054 a0001c0001t0017g0055 a0001c0001t0017g0056 a0001c0001t0017g0057 a0001c0001t0017g0061 a0001c0001t0017g0345 a0001c0001t0018g0049 a0001c0001t0018g0147 a0001c0001t0018g0154 a0001c0001t0018g0293 a0001c0001t0018g0316 a0001c0001t0018g0321 a0001c0001t0019g0064 a0001c0001t0019g0066 a0001c0001t0019g0067 a0001c0001t0019g0070 a0001c0001t0019g0071 a0001c0001t0020g0163 a0001c0001t0020g0236 a0001c0001t0020g0252 a0001c0001t0020g0253 a0001c0001t0020g0258 a0001c0001t0021g0091 a0001c0001t0021g0104 a0001c0001t0021g0109 a0001c0001t0021g0129 a0001c0001t0022g0222 a0001c0001t0022g0310 a0001c0001t0023g0087 a0001c0001t0023g0115 a0001c0001t0023g0116 a0001c0001t0024g0008 a0001c0001t0024g0010 a0001c0001t0024g0031 a0001c0001t0025g0068 a0001c0001t0025g0069 a0001c0001t0025g0079 a0001c0001t0026g0146 a0001c0001t0026g0318 a0001c0001t0026g0320 a0001c0001t0027g0075 a0001c0001t0027g0167 a0001c0001t0027g0175 a0001c0001t0028g0232 a0001c0001t0028g0298 a0001c0001t0028g0313 a0001c0001t0029g0184 a0001c0001t0029g0356 a0001c0001t0030g0092 a0001c0001t0030g0093 a0001c0001t0031g0006 a0001c0001t0031g0029 a0001c0001t0032g0052 a0001c0001t0032g0053 a0001c0001t0033g0059 a0001c0001t0033g0072 a0001c0001t0034g0322 a0001c0001t0034g0359 a0001c0001t0035g0243 a0001c0001t0035g0275 a0001c0001t0036g0151 a0001c0001t0036g0152 a0001c0001t0037g0228 a0001c0001t0037g0346 a0001c0001t0038g0073 a0001c0001t0038g0074 a0001c0001t0039g0150 a0001c0001t0039g0299 a0001c0001t0040g0164 a0001c0001t0041g0165 a0001c0001t0041g0166 a0001c0001t0042g0343 a0001c0001t0043g0336 a0001c0001t0044g0201 a0001c0001t0046g0081 a0001c0001t0047g0261 a0001c0001t0049g0022 a0001c0001t0050g0021 a0001c0001t0051g0033 a0001c0001t0052g0039 a0001c0001t0054g0060 a0001c0001t0055g0062 a0001c0001t0056g0063 a0001c0001t0057g0065 a0001c0001t0058g0315 a0001c0001t0059g0170 a0001c0001t0060g0168 a0001c0001t0061g0296 a0001c0001t0062g0319 a0001c0001t0063g0051 a0001c0001t0064g0302 a0001c0001t0065g0265 a0001c0001t0066g0245 a0001c0001t0067g0153 a0001c0001t0068g0078 a0001c0001t0069g0076 a0001c0001t0071g0290 a0001c0001t0072g0144 a0001c0001t0073g0043 a0001c0001t0074g0045 a0001c0001t0075g0046 a0001c0001t0076g0044 a0001c0001t0077g0058 a0001c0003t0009g0292 a0001c0005t0008g0180 a0002c0002t0004g0281 a0002c0002t0022g0223 a0002c0002t0022g0289 a0003c0004t0001g0205	350	362	0.9669	-172	c.110 others(19): Show c.1104-6016_1104-5845del		WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
ZBTB24_chr6_109457594_109488219	109486642	AAAGTAAG others(165): Show AAAGTAAGTATGAAGGAAATCTAAACAAACATTGATTATGCAAAATAATG TCTAATTCGGAGAGTAAACAAATAGAGTAGATCTAAAATATTGAATGAAA ATACCATTTAAGATGGGAAGCTGGTTATCAGTATTCCAGTGTTTTAAGGG TACAGCTATTGATTACCTTGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	424	0.0024	-172	c.-37 others(11): Show c.-3745_-3574del		ZBTB24	ENSG00000112365.6	transcript	ENST00000230122.4	protein_coding					3424		chr6	TogoVar
ZNF365_chr10_62369369_62407450	62369789	TATATATA others(165): Show TATATATATATGTCCCATATATATATATCTCATATATATGTCCCATATAT ATATATCTCATATATATGTCCCATATATATATATCTCATATATATGTCCC ATATATATATATATCTCATATATATGTCCCATATATATATATCTCATATA TATGTCCCATATATATATATCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	350	0.0029	-172	c.-46 others(11): Show c.-4682_-4511del		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					4579		chr10	TogoVar
ZNF407_chr18_74592870_75070671	74773356	AGAAGCCA others(165): Show AGAAGCCAAGTTACTAGAGAGCTTAAAGAAGAAATTGACAATAGTATCAA AGAAGAAGTGATCAGAAGTGGTTTGGAACTATCAGTAGAAGCCAAGTTAT TAGAGAGCTTAAAGAAGAGATTGACAATAGTATGAAAGAGGAAGTGATCA AAAGTGGTTTGGAACTATCAGTG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp1 HG01099.hp1 others(23): Show HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA18960.hp2 NA19030.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010	a0001c0001 a0001c0003 a0001c0010 others(11): Show a0001c0001 a0001c0003 a0001c0010 a0001c0014 a0002c0002 a0002c0004 a0003c0005 a0004c0007 a0004c0008 a0004c0032 a0005c0012 a0006c0016 a0009c0022 a0010c0021	a0001c0001t0001 a0001c0003t0002 a0001c0003t0005 others(17): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0010t0001 a0001c0014t0008 a0002c0002t0001 a0002c0004t0002 a0002c0004t0005 a0003c0005t0001 a0004c0007t0001 a0004c0008t0002 a0004c0008t0005 a0004c0008t0007 a0004c0008t0008 a0004c0032t0004 a0005c0012t0007 a0006c0016t0002 a0009c0022t0002 a0010c0021t0008	a0001c0001t0001g0059 a0001c0003t0002g0064 a0001c0003t0005g0028 others(23): Show a0001c0001t0001g0059 a0001c0003t0002g0064 a0001c0003t0005g0028 a0001c0003t0006g0046 a0001c0010t0001g0082 a0001c0014t0008g0029 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0004t0002g0006 a0002c0004t0005g0048 a0003c0005t0001g0021 a0003c0005t0001g0086 a0004c0007t0001g0011 a0004c0007t0001g0013 a0004c0007t0001g0014 a0004c0008t0002g0019 a0004c0008t0005g0015 a0004c0008t0007g0016 a0004c0008t0008g0018 a0004c0032t0004g0041 a0005c0012t0007g0008 a0005c0012t0007g0009 a0006c0016t0002g0033 a0006c0016t0002g0034 a0009c0022t0002g0007 a0010c0021t0008g0038	26	92	0.2826	-172	c.480 others(19): Show c.4803-8041_4803-7870del		ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(164): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02280.hp1 HG02647.hp1 others(1): Show HG01884.hp1 HG02280.hp1 HG02647.hp1 HG03453.hp2	a0050 a0068 a0136 a0050 a0068 a0136	a0050c0065 a0050c0066 a0068c0134 others(1): Show a0050c0065 a0050c0066 a0068c0134 a0136c0064	a0050c0065t0001 a0050c0066t0001 a0068c0134t0013 others(1): Show a0050c0065t0001 a0050c0066t0001 a0068c0134t0013 a0136c0064t0001	a0050c0065t0001g0007 a0050c0066t0001g0163 a0068c0134t0013g0280 others(1): Show a0050c0065t0001g0007 a0050c0066t0001g0163 a0068c0134t0013g0280 a0136c0064t0001g0296	4	368	0.0109	-171	c.352 others(9): Show c.3522_3692del	p.Ala others(15): Show p.Ala1175_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3903/8960	3522/7707	1174/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	CGCTGCCC others(164): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGA GAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02135.hp2 HG02135.hp2	a0107 a0107	a0107c0152 a0107c0152	a0107c0152t0001 a0107c0152t0001	a0107c0152t0001g0185 a0107c0152t0001g0185	1	368	0.0027	-171	c.403 others(9): Show c.4036_4206del	p.Ala others(15): Show p.Ala1346_Thr1402del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4417/8960	4036/7707	1346/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856755	CATCAGCG others(164): Show CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAG TAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCC CCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGAC TACTGCCCCTGGAGTAGAGGAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04204.hp1 HG04204.hp1	a0083 a0083	a0083c0117 a0083c0117	a0083c0117t0001 a0083c0117t0001	a0083c0117t0001g0238 a0083c0117t0001g0238	1	368	0.0027	-171	c.420 others(9): Show c.4207_4377del	p.Thr others(15): Show p.Thr1403_Thr1459del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4588/8960	4207/7707	1403/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACLY_chr17_41861918_41923951	41865880	GTTTTTTT others(164): Show GTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGCTCTTCGCTTATTGCAACCTCCGCTGCCCGGGTTCAAGC GATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCACTCCAGGCTAATTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02738.hp2 others(3): Show HG01243.hp1 HG02109.hp1 HG02738.hp2 HG03130.hp1 HG03669.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0002c0002t0009 a0001c0001t0001 a0002c0002t0006 a0002c0002t0009	a0001c0001t0001g0008 a0001c0001t0001g0080 a0001c0001t0001g0081 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0188 a0002c0002t0006g0012 a0002c0002t0009g0011	6	294	0.0204	-171	c.17 others(11): Show c.1759_*1929del		ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding					1037		chr17	TogoVar
ACLY_chr17_41861918_41923951	41865965	TGCCCGGG others(164): Show TGCCCGGGTTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACTCCAGGCTAATTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGCTC TTCGCTTATTGCAACCTCCGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0243 a0001c0003t0004g0243	1	294	0.0034	-171	c.16 others(11): Show c.1674_*1844del		ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding					952		chr17	TogoVar
ADARB2_chr10_1172313_1742525	1541649	GGACCCTG others(164): Show GGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCC TGGATCCGTCCAGACCCCACTCAGACGTAGTTCAGACCCTGGATCACAGC CGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCCGCCCA GACCGCACTCAGATGTAGTTCA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0046 a0001c0003t0009g0046	1	106	0.0094	-171	c.101 others(21): Show c.101-162660_101-162490del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
AHRR_chr5_316714_443285	402298	ATGAGGGT others(164): Show ATGAGGGTGTGGAGAGAAGGGGACCCTCGTGCACTGTTGGCGGGAAGGCA GTCGTTGATGAGGGTGTGGAGAGAAGGGGACCCTCGTGCACTGTTGGCGG GAAGGCAGTCGTTGTTGAGGGTGTGGAGAGAAGGGGACCCTCGTGCACTG TTGGCGGGAAGGCAGTCGTTGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0030 a0006c0006t0030	a0006c0006t0030g0241 a0006c0006t0030g0241	1	268	0.0037	-171	c.352 others(19): Show c.352-10941_352-10771del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AKAP6_chr14_32324298_32842684	32454662	TCCCTCCT others(164): Show TCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTC CCTCCTTCTCTCCTTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TCCCTCCTTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCTTCCCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0152 a0002c0002t0003g0152	1	154	0.0065	-171	c.324 others(19): Show c.324+20846_324+21016del		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13						chr14	TogoVar
APLP2_chr11_130064894_130149805	130117571	ATTTTTGT others(164): Show ATTTTTGTATTTTTAGTAGAGGTGGGGTGTCACCATGCTGGCCAGGCTGG TCTCAGTTCTTTTGCAACATTTACATGCATCTATAAACAATGTTTTTGTG TTTTAAAATTTACATTAATGGCATCATACTGTACCTGACCTTTTACAGCT TGCTTTTACTTTACATCATTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0266 a0002c0002t0008g0266	1	274	0.0037	-171	c.404 others(17): Show c.404-3132_404-2962del		APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP9B_chr18_79064394_79383283	79246000	CGGAGGGC others(164): Show CGGAGGGCACCGCCCTACTGACTGAGGAGGGCACCGCCCTACTGACTGTG CGGAGGGCACCACCCTACTGACTGAGGAGGGCACCACCCTGACTGTGTGG AGGGCACCACCCTACTGACTGCGGAGGGCACCGCCCTACTGTCTGTGCGG AGGGCACCGCCCTACTGACTGA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0256 a0002c0002t0002g0256	1	298	0.0034	-171	c.110 others(19): Show c.1108-7357_1108-7187del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79246121	CGGAGGGC others(164): Show CGGAGGGCACCGCCCTACTGTCTGTGCGGAGGGCACCGCCCTACTGACTG AGGAGGGCACCGCCCTACTGACTGTGCGGAGGGCACCACCCTACTGACTG AGGAGGGCACCACCCTGACTGTGTGGAGGGCACCACCCTACTGACTGCGG AGGGCACCGCCCTACTGTCTGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0042 a0013c0023t0001g0042	1	298	0.0034	-171	c.110 others(19): Show c.1108-7258_1108-7088del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
CBFA2T3_chr16_88869858_88982207	88955502	GCCAAGGC others(164): Show GCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCT GACCCCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAA GGCTCCTGACCCCACCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCC CACCCAAGGCTCCTGACCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	284	0.0035	-171	c.151 others(19): Show c.151+20984_151+21154del		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBR3_chr21_36130079_36151562	36144484	GGGTGTAG others(164): Show GGGTGTAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAAGCA GTAGAATCACTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGT GCCACTGCACTGCAGCCTAGGCAACAAAACAAGACTCTGTCTCACAAAAC AAAATAAAAAAATTTTAGGCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0004 a0001c0009 others(8): Show a0001c0001 a0001c0004 a0001c0009 a0002c0002 a0003c0003 a0003c0008 a0004c0006 a0004c0007 a0006c0012 a0007c0010 a0008c0011	a0001c0001t0001 a0001c0004t0001 a0001c0009t0004 others(8): Show a0001c0001t0001 a0001c0004t0001 a0001c0009t0004 a0002c0002t0001 a0003c0003t0001 a0003c0008t0002 a0004c0006t0001 a0004c0007t0001 a0006c0012t0001 a0007c0010t0001 a0008c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(245): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0004t0001g0013 a0001c0004t0001g0023 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0170 a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0233 a0001c0004t0001g0234 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0240 a0001c0004t0001g0241 a0001c0004t0001g0242 a0001c0004t0001g0243 a0001c0004t0001g0248 a0001c0004t0001g0297 a0001c0004t0001g0298 a0001c0004t0001g0299 a0001c0004t0001g0302 a0001c0009t0004g0244 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0296 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0003c0003t0001g0264 a0003c0003t0001g0281 a0003c0008t0002g0167 a0003c0008t0002g0168 a0003c0008t0002g0169 a0004c0006t0001g0019 a0004c0006t0001g0137 a0004c0006t0001g0138 a0004c0006t0001g0139 a0004c0006t0001g0140 a0004c0006t0001g0141 a0004c0006t0001g0142 a0004c0006t0001g0144 a0004c0006t0001g0145 a0004c0006t0001g0148 a0004c0006t0001g0153 a0004c0007t0001g0124 a0004c0007t0001g0125 a0004c0007t0001g0146 a0004c0007t0001g0147 a0004c0007t0001g0149 a0004c0007t0001g0150 a0006c0012t0001g0154 a0007c0010t0001g0210 a0008c0011t0001g0193	343	424	0.8090	-171	c.398 others(17): Show c.398-1378_398-1208del		CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr21	TogoVar

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