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
MYH13_chr17_10295865_10378006	10300103	CAAGATCC others(344): Show CAAGATCCTGATTCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTCCTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(189): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18985.hp2 NA18988.hp1 NA18992.hp1 NA18995.hp2 NA19000.hp2 NA19004.hp2 NA19010.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0022 a0026 a0030 a0032 a0033 a0036 a0042	a0001c0003 a0001c0004 a0001c0006 others(67): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0014 a0001c0015 a0001c0017 a0001c0022 a0001c0027 a0001c0034 a0001c0039 a0001c0040 a0001c0050 a0001c0072 a0001c0075 a0001c0103 a0001c0105 a0001c0108 a0001c0113 a0001c0118 a0001c0119 a0001c0120 a0002c0001 a0002c0019 a0002c0038 a0002c0043 a0003c0005 a0003c0008 a0003c0009 a0003c0013 a0003c0025 a0003c0041 a0003c0071 a0004c0002 a0004c0010 a0004c0021 a0004c0026 a0004c0106 a0005c0016 a0005c0018 a0005c0028 a0005c0037 a0005c0047 a0005c0087 a0005c0095 a0006c0024 a0006c0033 a0007c0083 a0008c0104 a0009c0032 a0009c0049 a0010c0023 a0011c0031 a0012c0035 a0012c0058 a0013c0116 a0013c0117 a0015c0053 a0016c0059 a0016c0060 a0017c0036 a0018c0114 a0022c0056 a0026c0092 a0030c0084 a0032c0082 a0033c0077 a0036c0067 a0042c0057	a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 others(68): Show a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0022t0001 a0001c0027t0001 a0001c0034t0001 a0001c0039t0001 a0001c0040t0001 a0001c0050t0001 a0001c0072t0001 a0001c0075t0001 a0001c0103t0001 a0001c0105t0001 a0001c0108t0001 a0001c0113t0001 a0001c0118t0001 a0001c0119t0001 a0001c0120t0001 a0002c0001t0001 a0002c0019t0001 a0002c0038t0001 a0002c0043t0001 a0003c0005t0001 a0003c0008t0001 a0003c0009t0001 a0003c0009t0002 a0003c0013t0001 a0003c0025t0001 a0003c0041t0001 a0003c0071t0001 a0004c0002t0001 a0004c0010t0001 a0004c0021t0001 a0004c0026t0001 a0004c0106t0001 a0005c0016t0001 a0005c0018t0001 a0005c0028t0001 a0005c0037t0001 a0005c0047t0001 a0005c0087t0001 a0005c0095t0001 a0006c0024t0001 a0006c0033t0001 a0007c0083t0001 a0008c0104t0001 a0009c0032t0001 a0009c0049t0001 a0010c0023t0001 a0011c0031t0001 a0012c0035t0001 a0012c0058t0001 a0013c0116t0001 a0013c0117t0001 a0015c0053t0001 a0016c0059t0001 a0016c0060t0001 a0017c0036t0001 a0018c0114t0001 a0022c0056t0001 a0026c0092t0001 a0030c0084t0001 a0032c0082t0001 a0033c0077t0001 a0036c0067t0001 a0042c0057t0001	a0001c0003t0001g0008 a0001c0003t0001g0032 a0001c0003t0001g0043 others(188): Show a0001c0003t0001g0008 a0001c0003t0001g0032 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0051 a0001c0003t0001g0069 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0232 a0001c0003t0001g0237 a0001c0003t0001g0241 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0246 a0001c0003t0001g0249 a0001c0003t0001g0269 a0001c0003t0001g0356 a0001c0004t0001g0030 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0194 a0001c0004t0001g0236 a0001c0004t0001g0344 a0001c0004t0001g0345 a0001c0004t0001g0346 a0001c0006t0001g0001 a0001c0006t0001g0084 a0001c0006t0001g0085 a0001c0006t0001g0105 a0001c0006t0001g0126 a0001c0006t0001g0132 a0001c0006t0001g0198 a0001c0006t0001g0218 a0001c0006t0001g0268 a0001c0007t0001g0006 a0001c0007t0001g0007 a0001c0007t0001g0107 a0001c0007t0001g0260 a0001c0007t0001g0312 a0001c0007t0001g0376 a0001c0012t0001g0267 a0001c0012t0001g0272 a0001c0012t0001g0297 a0001c0012t0001g0310 a0001c0012t0001g0353 a0001c0014t0001g0010 a0001c0014t0001g0100 a0001c0014t0001g0110 a0001c0014t0001g0136 a0001c0014t0001g0375 a0001c0015t0001g0371 a0001c0015t0001g0372 a0001c0017t0001g0090 a0001c0017t0001g0129 a0001c0017t0001g0141 a0001c0022t0001g0293 a0001c0027t0001g0009 a0001c0027t0001g0154 a0001c0027t0001g0161 a0001c0027t0001g0266 a0001c0034t0001g0168 a0001c0034t0001g0288 a0001c0039t0001g0113 a0001c0039t0001g0115 a0001c0040t0001g0117 a0001c0040t0001g0137 a0001c0050t0001g0042 a0001c0050t0001g0065 a0001c0072t0001g0160 a0001c0075t0001g0358 a0001c0103t0001g0174 a0001c0105t0001g0163 a0001c0108t0001g0156 a0001c0113t0001g0102 a0001c0118t0001g0273 a0001c0119t0001g0274 a0001c0120t0001g0178 a0002c0001t0001g0283 a0002c0001t0001g0334 a0002c0019t0001g0054 a0002c0019t0001g0188 a0002c0019t0001g0189 a0002c0019t0001g0190 a0002c0019t0001g0191 a0002c0019t0001g0193 a0002c0038t0001g0369 a0002c0043t0001g0251 a0002c0043t0001g0333 a0003c0005t0001g0046 a0003c0005t0001g0088 a0003c0005t0001g0089 a0003c0005t0001g0112 a0003c0005t0001g0114 a0003c0005t0001g0116 a0003c0005t0001g0122 a0003c0005t0001g0123 a0003c0005t0001g0124 a0003c0005t0001g0125 a0003c0005t0001g0130 a0003c0005t0001g0147 a0003c0005t0001g0215 a0003c0005t0001g0299 a0003c0008t0001g0036 a0003c0008t0001g0053 a0003c0008t0001g0238 a0003c0008t0001g0255 a0003c0008t0001g0338 a0003c0008t0001g0354 a0003c0008t0001g0361 a0003c0009t0001g0039 a0003c0009t0001g0305 a0003c0009t0001g0318 a0003c0009t0001g0319 a0003c0009t0001g0330 a0003c0009t0001g0362 a0003c0009t0001g0373 a0003c0009t0001g0377 a0003c0009t0002g0003 a0003c0013t0001g0012 a0003c0013t0001g0016 a0003c0013t0001g0017 a0003c0013t0001g0019 a0003c0013t0001g0021 a0003c0013t0001g0023 a0003c0025t0001g0155 a0003c0025t0001g0157 a0003c0025t0001g0158 a0003c0041t0001g0197 a0003c0041t0001g0365 a0003c0071t0001g0118 a0004c0002t0001g0075 a0004c0010t0001g0329 a0004c0021t0001g0093 a0004c0021t0001g0094 a0004c0026t0001g0153 a0004c0026t0001g0165 a0004c0026t0001g0167 a0004c0026t0001g0177 a0004c0106t0001g0176 a0005c0016t0001g0060 a0005c0016t0001g0210 a0005c0018t0001g0015 a0005c0018t0001g0018 a0005c0018t0001g0206 a0005c0018t0001g0264 a0005c0018t0001g0281 a0005c0018t0001g0282 a0005c0028t0001g0083 a0005c0028t0001g0363 a0005c0037t0001g0148 a0005c0037t0001g0195 a0005c0047t0001g0099 a0005c0047t0001g0103 a0005c0087t0001g0290 a0005c0095t0001g0059 a0006c0024t0001g0095 a0006c0033t0001g0185 a0007c0083t0001g0096 a0008c0104t0001g0164 a0009c0032t0001g0171 a0009c0032t0001g0172 a0009c0032t0001g0175 a0009c0049t0001g0151 a0009c0049t0001g0248 a0010c0023t0001g0351 a0011c0031t0001g0041 a0011c0031t0001g0056 a0011c0031t0001g0061 a0012c0035t0001g0143 a0012c0035t0001g0145 a0012c0058t0001g0142 a0013c0116t0001g0087 a0013c0117t0001g0380 a0015c0053t0001g0047 a0015c0053t0001g0055 a0016c0059t0001g0037 a0016c0060t0001g0111 a0017c0036t0001g0144 a0017c0036t0001g0146 a0018c0114t0001g0339 a0022c0056t0001g0209 a0026c0092t0001g0368 a0030c0084t0001g0254 a0032c0082t0001g0180 a0033c0077t0001g0355 a0036c0067t0001g0104 a0042c0057t0001g0159	192	382	0.5026	-351	c.49 others(9): Show c.497_*847del	MYH13	ENSG00000006788.14	transcript	ENST00000252172.9	protein_coding		761		chr17	TogoVar
MYT1L_chr2_1784113_2336275	2185849	GCCGGGCC others(344): Show GCCGGGCCTCCCAGACGCCCGCGTTCCTTACGTGAGGGGGACGCAGCCGG GCCTTCCGGGCCTTCCCAAGTCCCGCGTTCCTTCTGTGAGGCGGACGCAG CCGGGCCTCCCAGACGTCCGCGTTCCTTCCTTGAGGGGGACGCAGCCAGG CCTTCCGGGCCTTCCCGAGTCCCGCGTTCCTTCCGTGAGGCGGACGCAGC CGGGCCTCCCAGACGCCCGCGTTCCTTCCGTGAGGGGGACGCAGCCAGGC CTTCCGGGCCTTCCGGAGTCCCGCGTTCCTTCCGTGAGGGGGACGCAGCC GGGCCTCCCAGACGCCCGCGTTCCTTACGTGAGGGGGACGCAGCCAGGCC TT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02647.hp1 HG02717.hp2 others(10): Show HG00140.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03209.hp1 HG03453.hp1 HG03834.hp2 HG03942.hp2 HG06807.hp2 NA19012.hp2 NA19065.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0013	a0001c0001t0007 a0001c0001t0010 a0001c0002t0027 others(9): Show a0001c0001t0007 a0001c0001t0010 a0001c0002t0027 a0001c0003t0010 a0001c0004t0007 a0001c0005t0011 a0001c0006t0007 a0001c0007t0006 a0001c0007t0018 a0001c0009t0006 a0001c0009t0008 a0001c0013t0019	a0001c0001t0007g0029 a0001c0001t0010g0034 a0001c0002t0027g0104 others(10): Show a0001c0001t0007g0029 a0001c0001t0010g0034 a0001c0002t0027g0104 a0001c0003t0010g0096 a0001c0004t0007g0035 a0001c0005t0011g0074 a0001c0005t0011g0095 a0001c0006t0007g0098 a0001c0007t0006g0080 a0001c0007t0018g0068 a0001c0009t0006g0075 a0001c0009t0008g0007 a0001c0013t0019g0065	13	104	0.1250	-351	c.-42 others(21): Show c.-420-13212_-420-12862del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78361890	TAAGAAGA others(344): Show TAAGAAGAAACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01109.hp2 others(19): Show HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02257.hp1 HG02257.hp2 HG02922.hp1 HG02922.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0002t0007 a0001c0002t0011 a0001c0002t0015 a0001c0003t0009 a0001c0003t0012 a0001c0004t0005 a0001c0004t0006 a0001c0006t0001 a0001c0006t0017 a0001c0007t0002 a0001c0008t0004 a0001c0009t0003 a0001c0010t0001 a0002c0005t0005 a0002c0005t0016	a0001c0001t0002g0018 a0001c0001t0003g0013 a0001c0001t0008g0008 others(19): Show a0001c0001t0002g0018 a0001c0001t0003g0013 a0001c0001t0008g0008 a0001c0001t0010g0006 a0001c0001t0013g0007 a0001c0001t0014g0004 a0001c0002t0007g0009 a0001c0002t0011g0016 a0001c0002t0015g0011 a0001c0003t0009g0024 a0001c0003t0012g0019 a0001c0004t0005g0003 a0001c0004t0006g0021 a0001c0006t0001g0023 a0001c0006t0017g0001 a0001c0007t0002g0010 a0001c0007t0002g0020 a0001c0008t0004g0014 a0001c0009t0003g0017 a0001c0010t0001g0012 a0002c0005t0005g0002 a0002c0005t0016g0022	22	24	0.9167	-351	c.757 others(19): Show c.757+64043_757+64393del	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
OPRL1_chr20_64075082_64105633	64090734	CCACTGAT others(344): Show CCACTGATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTGGGCACTGATCTG GGGCCCAGCTGTGGCAGAGGTGCCCTGGGCACTGATCTGGGGCCCAGCTG TGGCAGAGGTGCCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGAGGTG CCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGGGGTGCCCTGGGCACT GATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTGGGCACTGATCTGGGGCC CAGCTGTGGCAGGGGTGCCCTGGGCACTGATCTGGGGCCCAGCTGTGGCA GAGGTGCCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTG GG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0019 a0001c0001t0020g0019	1	66	0.0152	-351	c.-18 others(17): Show c.-184-970_-184-620del	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRKCZ_chr1_2045411_2190395	2123768	TGGTGGTT others(344): Show TGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACG GCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCAC GGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGG TCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTT AGGGTCACGGCGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGCGGT TAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGG CGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGACGGTTAGGGTCACG GC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	286	0.0035	-351	c.335 others(19): Show c.335-11480_335-11130del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF6_chr20_63976132_64038100	64012513	CGGCTTCT others(344): Show CGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCACGGCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGA GGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCT ACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAAT GATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCT AGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCT TTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTC AT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0215 a0001c0001t0008g0215	1	294	0.0034	-351	c.152 others(19): Show c.1524+1069_1524+1419del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
TCERG1L_chr10_131087391_131316721	131228240	CCCCTCCA others(344): Show CCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAGAC AGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGCATTTCCT CAAGGTCTCTGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCAC GAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCCT CCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGCA TTTCCTCAAGGTCTCTGGAGTCTCCACTCCAGAAAGGCATTTCCTCAAGG CCTCACGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTC TT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02129.hp2 NA19077.hp1 HG00609.hp2 HG02129.hp2 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0003	a0001c0002t0001g0124 a0001c0002t0003g0140 a0001c0003t0003g0004 a0001c0002t0001g0124 a0001c0002t0003g0140 a0001c0003t0003g0004	3	324	0.0093	-351	c.856 others(19): Show c.856+31668_856+32018del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TMPRSS15_chr21_18264116_18408785	18315405	ATGGGTGC others(344): Show ATGGGTGCAGCACACCAACATGGCACATGTATACACAATAACAAACCTGC ACGTTGTGCACATGTACCGTAGAACTTAAAGTATAATAAAATATATATAT ATAAAATAATAAACATGAGTCCTTTGCCACAGCTCAAGGTGGAGCTAGCT TTGATACTGAGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCA CATGTATACACATATAACAAACCTGCACGTTGTGCACATGTACCGTAGAA CTTAAAGTATAATAAAATATATATATATAAAATAATAAACATGAGTCCTT TGCCACAGCTCAAGGTGGAGCTAGCTTTGATACTGAGTAAATGACGAGTT AG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03669.hp1 NA19030.hp2 HG01106.hp1 HG03669.hp1 NA19030.hp2	a0004 a0005 a0036 a0004 a0005 a0036	a0004c0008 a0005c0019 a0036c0034 a0004c0008 a0005c0019 a0036c0034	a0004c0008t0001 a0005c0019t0001 a0036c0034t0004 a0004c0008t0001 a0005c0019t0001 a0036c0034t0004	a0004c0008t0001g0187 a0005c0019t0001g0150 a0036c0034t0004g0071 a0004c0008t0001g0187 a0005c0019t0001g0150 a0036c0034t0004g0071	3	314	0.0096	-351	c.192 others(17): Show c.1922-500_1922-150del	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	16/24			chr21	TogoVar
TNK2_chr3_195858364_195913551	195880974	CCCGCCCC others(344): Show CCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAA CACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCT AACACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGT AACACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGT AACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGT AACACCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCT CTAACACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCC CT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0263 a0001c0009t0002g0263	1	372	0.0027	-351	c.887 others(16): Show c.887+726_887+1076del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TUBGCP2_chr10_133273635_133313872	133292024	TCTGTGTC others(344): Show TCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCC CGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCA TGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCA CACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCG GGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCC GTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTC CC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01515.hp2 HG03017.hp2 others(2): Show HG01257.hp2 HG01515.hp2 HG03017.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0002 a0001c0001t0001 a0001c0009t0002	a0001c0001t0001g0103 a0001c0001t0001g0236 a0001c0001t0001g0238 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0246 a0001c0009t0002g0036	5	284	0.0176	-351	c.121 others(17): Show c.1214+124_1214+474del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZC4H2_chrX_64910807_64981450	64946397	CTGATTCT others(344): Show CTGATTCTGCTCGCCCTCTGTGGGCTGCACCCGCTGTCTAACCAGTCCCA ACGAGAGGAACCGGGTACCTCAGTTGGAAATGCAGCAGTCACCCACCTCC TGCTTTGGTCTTGCTGGGAACTGCAGATCAGAGCTGTTCCTATTCAGCCA TCTTGGAAAAACCCCTTGGTTGTTTTAAATGCGTGCACACACACACACAC ACACACACACACACACACGTCTATTTAAATATAAATTTCACTGGGGATAA ACCCTGGTTGTTTTATATATATGAAATATATATGTTTGGATAGATAAATA GATAGATAGATTCTTAAAACAACCAGGGATTCATCTCAGGAGTGGGATTT CA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	208	0.0048	-351	c.54- others(17): Show c.54-24760_54-24410del	ZC4H2	ENSG00000126970.17	transcript	ENST00000374839.8	protein_coding	1/4			chrX	TogoVar
ADARB2_chr10_1172313_1742525	1238021	CTCTCCCT others(343): Show CTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTG CATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTAC T	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0064 a0002c0002t0064	a0002c0002t0064g0100 a0002c0002t0064g0100	1	106	0.0094	-350	c.136 others(19): Show c.1361+3760_1361+4109del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CACNG7_chr19_53904278_53948950	53921728	CATTGGTG others(343): Show CATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCCAGGTCT GGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCA GGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGTC CCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTATTGGTGGAGTT GTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTG GAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCAT TGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGG T	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18944.hp1 NA18949.hp1 others(2): Show HG02074.hp1 NA18944.hp1 NA18949.hp1 NA19066.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0002g0221 others(2): Show a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0002g0221 a0001c0001t0002g0235 a0001c0001t0012g0223	5	364	0.0137	-350	c.424 others(17): Show c.424+6237_424+6586del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922614	GCCTGGTC others(343): Show GCCTGGTCATTGGTGCAGTTGTCCCCAGGCCTGGTCATTGGTGCAGTTGT CCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGT TGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTG GGGTTGTCCCAGGCTCGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTG GTGGAGTTGTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTC ATTGGTGGAGTTGACTCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCTG GTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGG T	G G	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	364	0.0028	-350	c.424 others(17): Show c.424+7111_424+7460del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEP131_chr17_81184596_81227965	81209556	ACTAAGCA others(343): Show ACTAAGCAAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCA GAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAG CGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAG GATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGACCGCTCGG AGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAA GCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCG CTCGGAGAAGCGGACGCTAAGCGAGGATCAGACCGCTCCGAGAAGCGGAC G	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG03486.hp2 HG01884.hp2 HG02976.hp2 HG03486.hp2	a0011 a0032 a0011 a0032	a0011c0015 a0032c0055 a0011c0015 a0032c0055	a0011c0015t0006 a0032c0055t0009 a0011c0015t0006 a0032c0055t0009	a0011c0015t0006g0321 a0011c0015t0006g0322 a0032c0055t0009g0093 a0011c0015t0006g0321 a0011c0015t0006g0322 a0032c0055t0009g0093	3	384	0.0078	-350	c.178 others(15): Show c.178-884_178-535del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CNTN4_chr3_2093866_3062959	2729302	CGCCTGTA others(343): Show CGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGT CAGGAGATTGAGACCATCCCGGCTAACACAAAATTAACAAAAAATTAGCC GGGCGTGGTGGCAGGCGCCTGTATTTCCAGCTACTCGGGAGGCTAAGCAG GAGAATCGCTCAAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTG CCACTGCTCTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAGAAGAGAAAAGAAAAATGAAAGTTGTCTGTGCTCAATT CATAACTAGTTTTAAAACTTTAGAATGCATAGGCCAGGAGCAGTGGCTCA T	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0048 a0001c0004t0002g0048	1	116	0.0086	-350	c.56- others(15): Show c.56-6901_56-6552del	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
DDX51_chr12_132131594_132149319	132135792	CCGGTGCC others(343): Show CCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGT GCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGA GTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCC CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG02602.hp1 HG01517.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0001t0001g0001 a0001c0001t0001g0078	2	334	0.0060	-350	c.31 others(11): Show c.3130_*3479del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		801		chr12	TogoVar
DHRS12_chr13_51762993_51809163	51775267	TCTCCTAC others(343): Show TCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCC TACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGTAT TCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTAT TCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCT ACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCT C	T T	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19005.hp2 NA18972.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0105 a0001c0001t0001g0123	2	420	0.0048	-350	c.363 others(17): Show c.363+1443_364-1234del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2277972	AAGAGAGA others(343): Show AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAG GGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGG AGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGA G	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0009 a0004c0004t0005g0009	1	50	0.0200	-350	c.389 others(19): Show c.389-11375_389-11026del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DPH7_chr9_137549444_137583925	137565722	TCTGTCTG others(343): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG A	T T	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19007.hp1 NA19054.hp2 others(2): Show NA18955.hp2 NA19007.hp1 NA19054.hp2 NA19074.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0099 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0099 a0001c0001t0001g0191 a0001c0001t0001g0195	5	340	0.0147	-350	c.641 others(15): Show c.641-918_641-569del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137568174	TCTGTCTG others(343): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG A	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	340	0.0029	-350	c.641 others(17): Show c.641-3370_641-3021del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
FAM178B_chr2_96870885_96991580	96978883	TCAAAGTG others(343): Show TCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCGATTTCAT TCTTTTTTATGGCTGCATAGTATTCTATGGTGTATGTATCACTTTTTTTT TTTTTTTTTTTTTGAAACAGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCA GTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTTAAGCAAT TCCCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGACACACACCACCA TGCCTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTTTCACCACGTTG GCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTC C	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0161 a0002c0009t0001g0161	1	250	0.0040	-350	c.74- others(15): Show c.74-6627_74-6278del	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	1/16			chr2	TogoVar
FAT1_chr4_186582794_186728856	186626233	AATGAATG others(343): Show AATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGTGAGCTTC ATCAGCCTACAGAATGAATGAATGAATGAATGAGGGACCAACATGGCACC TGGCACATAAAGTGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAA TGAGGGACCAACATGGCACCTGGCACATAAAGCGAGCTTCATCAGCCTAC AGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCTCGCACATAA ACTGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAATGAGGGACCA ACATGGCACCTGGCACATAAAGTGAGCTTCACCAGCCCACAGAATGAATG C	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0088 a0088	a0088c0099 a0088c0099	a0088c0099t0001 a0088c0099t0001	a0088c0099t0001g0249 a0088c0099t0001g0249	1	338	0.0030	-350	c.481 others(19): Show c.4810+1571_4810+1920del	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	9/26			chr4	TogoVar
HIC1_chr17_2050103_2068241	2052717	GGGGGTTA others(343): Show GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00597.hp1 others(31): Show HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG01123.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01884.hp1 HG01943.hp1 HG01952.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02976.hp2 NA18906.hp1 NA18939.hp1 NA18944.hp2 NA18975.hp2 NA18983.hp2 NA18990.hp2 NA19003.hp1 NA19077.hp2 NA19084.hp2 NA19087.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 a0001c0001t0034 a0001c0001t0059 a0001c0001t0071 a0001c0001t0079 a0001c0001t0084 a0001c0001t0086 a0001c0002t0001 a0001c0002t0007 a0001c0005t0010	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0001 others(18): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0001t0005g0002 a0001c0001t0006g0002 a0001c0001t0007g0003 a0001c0001t0008g0001 a0001c0001t0008g0010 a0001c0001t0009g0002 a0001c0001t0010g0003 a0001c0001t0011g0002 a0001c0001t0026g0002 a0001c0001t0034g0001 a0001c0001t0059g0002 a0001c0001t0071g0001 a0001c0001t0079g0002 a0001c0001t0084g0002 a0001c0001t0086g0002 a0001c0002t0001g0001 a0001c0002t0007g0001 a0001c0005t0010g0003	34	414	0.0821	-350	c.-25 others(11): Show c.-2541_-2192del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2385		chr17	TogoVar
LYPD8_chr1_248734415_248760759	248746709	GCCCGCAC others(343): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCA CCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCC GCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCC AGGGCATCACCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGC CAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGGG CATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCC AGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATC C	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	374	0.0027	-350	c.337 others(17): Show c.337+1230_338-1431del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
MAK_chr6_10757723_10843539	10786378	CAATGCAC others(343): Show CAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCA CCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCAC TCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATTCACCA GTTCACCTCCTATTCACCACTCCACTAATTCACCAGTTCACCTCCTATTC ACCACTCCACTAATTCACCAGTTCACCTCCTATTCACCACTCCACTAATG CACCAGTTCACCTCCTATTCACCACTCCACTAATTCACCAGTTCACCTCC TATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCAC T	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG02723.hp1 others(6): Show HG00735.hp2 HG01243.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0099 a0001c0001t0002g0100 others(6): Show a0001c0001t0002g0016 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0260	9	272	0.0331	-350	c.131 others(19): Show c.1317-2156_1317-1807del	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	10/14			chr6	TogoVar
NF1_chr17_31089977_31382675	31332573	GGTTTTTT others(343): Show GGTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGC ACCCACTACTGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCT CCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTC CTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATAT GCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTT CCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATG T	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp2 others(76): Show HG00099.hp1 HG00280.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02615.hp2 HG02630.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp2 NA18612.hp2 NA18942.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0004 a0001c0011 others(5): Show a0001c0002 a0001c0004 a0001c0011 a0001c0012 a0001c0015 a0001c0018 a0003c0013 a0006c0019	a0001c0002t0002 a0001c0002t0014 a0001c0002t0024 others(11): Show a0001c0002t0002 a0001c0002t0014 a0001c0002t0024 a0001c0002t0028 a0001c0002t0030 a0001c0002t0031 a0001c0004t0009 a0001c0004t0021 a0001c0011t0003 a0001c0012t0008 a0001c0015t0002 a0001c0018t0002 a0003c0013t0002 a0006c0019t0013	a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0002g0156 others(76): Show a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0160 a0001c0002t0002g0166 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0210 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0237 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0014g0184 a0001c0002t0024g0002 a0001c0002t0028g0176 a0001c0002t0030g0199 a0001c0002t0031g0154 a0001c0004t0009g0129 a0001c0004t0009g0130 a0001c0004t0021g0128 a0001c0011t0003g0003 a0001c0011t0003g0004 a0001c0012t0008g0006 a0001c0012t0008g0029 a0001c0015t0002g0162 a0001c0018t0002g0226 a0003c0013t0002g0167 a0003c0013t0002g0168 a0006c0019t0013g0161	79	252	0.3135	-350	c.581 others(19): Show c.5812+2076_5813-1915del	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	39/57			chr17	TogoVar
NOC4L_chr12_132139457_132157468	132149693	TGCGGCCG others(343): Show TGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGC C	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	294	0.0034	-350	c.901 others(15): Show c.901+801_902-936del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
OGFOD3_chr17_82384210_82423586	82386014	GGGCTGTC others(343): Show GGGCTGTCTCTGTCCCAGGCTCTCCTCCCCATCCTCCCTCCGTCTTCCCC TGGCCTCCAGTGATGGGGAGGGGCTGTCTCTGTCCCAGGCTCTCCTCCCC CATCCTGCCTCCGCCTTCCCCGGCCTCCAGTGATGGGGAGGGGCTGTCTC TGTCCCAGGCTCTCCTCTCTGTCCTCCCTCCGCCTTCCCCTGGCCTCTAG TGATGGGGAGTGGCTGTCTCTGTCCCAGGCTCTCCTCTCTGTCCTCCCTC CGTCTTCCCCTGGCCTCCAGTGATGGGGAGGGGCTGTCTCTGTCCCAGGC TCTCCTCCCCGTCCTCCCTCCGCCTTCCCCTGGCCTGTAGTGATGGGGAG T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02922.hp1 HG02109.hp2 HG02258.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0008 a0001c0006t0008 a0001c0002t0008 a0001c0006t0008	a0001c0002t0008g0098 a0001c0006t0008g0174 a0001c0006t0008g0313 a0001c0002t0008g0098 a0001c0006t0008g0174 a0001c0006t0008g0313	3	348	0.0086	-350	c.60 others(11): Show c.6034_*6383del	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		3195		chr17	TogoVar
PDCD1_chr2_241844884_241863894	241848105	TGCTGGCG others(343): Show TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGACAATGGATGAATGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCCGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01993.hp2 NA20805.hp1 HG01261.hp1 HG01993.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0001 a0001c0001t0001g0033	3	407	0.0074	-350	c.26 others(11): Show c.2603_*2952del	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1778		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848393	TTGAGTTC others(343): Show TTGAGTTCTGGATGCTGGCGCGCCGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGACGCTGGCGCGCTGCGCTGTCAATGGATGAATGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAATGGATGAATGAAAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTATGAGAGCC TTGAGTTCTGGATGCTGGTGCGCTGCGCTGTCAATGGATGAATGAGAGCC G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG04115.hp1 HG03927.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	407	0.0049	-350	c.23 others(11): Show c.2315_*2664del	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1490		chr2	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	TGTGTTTT others(343): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00609.hp2 others(28): Show HG00140.hp1 HG00323.hp1 HG00609.hp2 HG01069.hp1 HG01081.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp1 NA18747.hp1 NA18950.hp1 NA19000.hp1 NA19002.hp2 NA19079.hp1 NA19080.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0036 a0001c0001t0050 a0001c0001t0083 a0001c0002t0007 a0001c0002t0046 a0001c0009t0002 a0002c0007t0014 a0004c0011t0007	a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0001t0001g0335 others(26): Show a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0002g0304 a0001c0001t0002g0339 a0001c0001t0003g0336 a0001c0001t0003g0388 a0001c0001t0003g0389 a0001c0001t0004g0012 a0001c0001t0004g0331 a0001c0001t0005g0266 a0001c0001t0007g0343 a0001c0001t0010g0386 a0001c0001t0010g0409 a0001c0001t0016g0206 a0001c0001t0016g0385 a0001c0001t0021g0347 a0001c0001t0022g0009 a0001c0001t0036g0346 a0001c0001t0050g0341 a0001c0001t0083g0309 a0001c0002t0007g0390 a0001c0002t0046g0037 a0001c0009t0002g0361 a0002c0007t0014g0387 a0004c0011t0007g0052	31	432	0.0718	-350	c.77- others(15): Show c.77-3063_77-2714del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210560	ATGTTAGC others(343): Show ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC G	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00642.hp2 others(44): Show HG00280.hp1 HG00544.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02155.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG06807.hp2 NA18943.hp1 NA18959.hp1 NA18995.hp2 NA19043.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0064 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0002t0004 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0002t0021 a0001c0002t0035 a0001c0002t0038 a0001c0002t0067 a0001c0002t0089 a0001c0003t0002 a0001c0004t0002 a0001c0004t0078 a0001c0010t0002 a0002c0007t0008	a0001c0001t0001g0096 a0001c0001t0002g0152 a0001c0001t0002g0374 others(41): Show a0001c0001t0001g0096 a0001c0001t0002g0152 a0001c0001t0002g0374 a0001c0001t0003g0013 a0001c0001t0003g0326 a0001c0001t0003g0329 a0001c0001t0004g0363 a0001c0001t0004g0371 a0001c0001t0005g0375 a0001c0001t0006g0106 a0001c0001t0007g0011 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0043 a0001c0001t0008g0310 a0001c0001t0009g0382 a0001c0001t0013g0235 a0001c0001t0013g0236 a0001c0001t0014g0348 a0001c0001t0014g0381 a0001c0001t0016g0268 a0001c0001t0020g0394 a0001c0001t0064g0269 a0001c0001t0068g0044 a0001c0001t0072g0321 a0001c0001t0073g0024 a0001c0001t0084g0045 a0001c0001t0086g0416 a0001c0001t0087g0415 a0001c0002t0004g0349 a0001c0002t0008g0038 a0001c0002t0013g0042 a0001c0002t0014g0408 a0001c0002t0021g0015 a0001c0002t0035g0318 a0001c0002t0038g0380 a0001c0002t0067g0041 a0001c0002t0089g0406 a0001c0003t0002g0234 a0001c0004t0002g0344 a0001c0004t0002g0391 a0001c0004t0078g0372 a0001c0010t0002g0368 a0002c0007t0008g0407	47	432	0.1088	-350	c.77- others(15): Show c.77-3040_77-2691del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIAS2_chr18_46798218_46922507	46802746	TAAGAAAG others(343): Show TAAGAAAGCCAAAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp1 others(31): Show HG00099.hp1 HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG01123.hp2 HG01243.hp1 HG01361.hp1 HG01515.hp1 HG01884.hp1 HG01993.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02486.hp1 HG02572.hp1 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03471.hp1 HG03704.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18988.hp2 NA19085.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 others(29): Show a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0055 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0079 a0001c0001t0099 a0001c0001t0246 a0001c0001t0247 a0001c0001t0248 a0001c0001t0249 a0001c0001t0256 a0001c0002t0030 a0001c0002t0031 a0001c0002t0218 a0001c0002t0220 a0001c0002t0221 a0001c0002t0254 a0001c0002t0255 a0001c0003t0216 a0001c0003t0217 a0001c0003t0219	a0001c0001t0032g0244 a0001c0001t0033g0241 a0001c0001t0034g0245 others(31): Show a0001c0001t0032g0244 a0001c0001t0033g0241 a0001c0001t0034g0245 a0001c0001t0035g0243 a0001c0001t0036g0249 a0001c0001t0037g0247 a0001c0001t0038g0248 a0001c0001t0039g0250 a0001c0001t0040g0251 a0001c0001t0041g0242 a0001c0001t0042g0240 a0001c0001t0055g0271 a0001c0001t0060g0234 a0001c0001t0061g0310 a0001c0001t0062g0308 a0001c0001t0079g0305 a0001c0001t0099g0312 a0001c0001t0246g0309 a0001c0001t0247g0311 a0001c0001t0248g0246 a0001c0001t0249g0019 a0001c0001t0256g0320 a0001c0002t0030g0127 a0001c0002t0030g0128 a0001c0002t0031g0123 a0001c0002t0031g0126 a0001c0002t0218g0120 a0001c0002t0220g0121 a0001c0002t0221g0129 a0001c0002t0254g0124 a0001c0002t0255g0125 a0001c0003t0216g0117 a0001c0003t0217g0116 a0001c0003t0219g0119	34	322	0.1056	-350	c.93 others(11): Show c.9337_*9686del	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding		471		chr18	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(343): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT G	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00558.hp1 others(54): Show HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00738.hp2 HG01070.hp2 HG01192.hp1 HG01978.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02622.hp2 HG02698.hp2 HG02895.hp2 HG02976.hp1 HG03130.hp2 HG03491.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18949.hp2 NA18957.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18986.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19078.hp2 NA19081.hp1 NA19083.hp1 NA19086.hp2 NA19090.hp2 NA20805.hp1	a0001 a0004 a0017 a0001 a0004 a0017	a0001c0002 a0001c0003 a0001c0012 others(5): Show a0001c0002 a0001c0003 a0001c0012 a0001c0014 a0001c0028 a0001c0030 a0004c0035 a0017c0027	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(15): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0024 a0001c0002t0025 a0001c0003t0001 a0001c0003t0008 a0001c0012t0004 a0001c0012t0015 a0001c0014t0001 a0001c0028t0001 a0001c0030t0003 a0004c0035t0002 a0017c0027t0002	a0001c0002t0001g0114 a0001c0002t0002g0003 a0001c0002t0002g0047 others(51): Show a0001c0002t0001g0114 a0001c0002t0002g0003 a0001c0002t0002g0047 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0116 a0001c0002t0002g0125 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0151 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0173 a0001c0002t0002g0216 a0001c0002t0002g0219 a0001c0002t0002g0232 a0001c0002t0004g0095 a0001c0002t0004g0096 a0001c0002t0004g0117 a0001c0002t0004g0162 a0001c0002t0006g0006 a0001c0002t0006g0275 a0001c0002t0006g0277 a0001c0002t0006g0278 a0001c0002t0008g0153 a0001c0002t0009g0118 a0001c0002t0009g0142 a0001c0002t0009g0164 a0001c0002t0013g0146 a0001c0002t0024g0075 a0001c0002t0025g0074 a0001c0003t0001g0017 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0008g0269 a0001c0012t0004g0140 a0001c0012t0004g0141 a0001c0012t0015g0213 a0001c0014t0001g0076 a0001c0028t0001g0069 a0001c0030t0003g0243 a0004c0035t0002g0026 a0017c0027t0002g0168	57	302	0.1887	-350	c.-84 others(17): Show c.-84-1522_-84-1173del	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PXMP4_chr20_33697758_33725310	33699559	GGGGGGGT others(343): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCTCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAATGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCC AGCCGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAATGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGG T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(119): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18951.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19077.hp2 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0010 others(1): Show a0001c0001 a0001c0004 a0001c0010 a0005c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(17): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0053 a0001c0001t0054 a0001c0001t0064 a0001c0001t0065 a0001c0004t0001 a0001c0010t0001 a0005c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(72): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0169 a0001c0001t0001g0203 a0001c0001t0007g0037 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0128 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0131 a0001c0001t0007g0163 a0001c0001t0010g0029 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0010g0134 a0001c0001t0010g0136 a0001c0001t0010g0165 a0001c0001t0012g0123 a0001c0001t0012g0124 a0001c0001t0012g0160 a0001c0001t0012g0161 a0001c0001t0012g0202 a0001c0001t0013g0014 a0001c0001t0013g0074 a0001c0001t0018g0081 a0001c0001t0018g0084 a0001c0001t0018g0089 a0001c0001t0018g0153 a0001c0001t0025g0090 a0001c0001t0027g0035 a0001c0001t0031g0135 a0001c0001t0042g0088 a0001c0001t0046g0133 a0001c0001t0047g0164 a0001c0001t0049g0077 a0001c0001t0053g0093 a0001c0001t0054g0095 a0001c0001t0064g0073 a0001c0001t0065g0209 a0001c0004t0001g0097 a0001c0004t0001g0144 a0001c0010t0001g0094 a0005c0007t0001g0099	122	388	0.3144	-350	c.77 others(11): Show c.7797_*8146del	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding		3198		chr20	TogoVar
PXMP4_chr20_33697758_33725310	33699579	CGGCCAGC others(343): Show CGGCCAGCTGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAATGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAG GGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCTCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAATGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCCCCCCGCC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	388	0.0026	-350	c.77 others(11): Show c.7777_*8126del	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding		3178		chr20	TogoVar
PXMP4_chr20_33697758_33725310	33699587	TGCCTCGT others(343): Show TGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAATGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCTCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAATGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGC C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	388	0.0026	-350	c.77 others(11): Show c.7769_*8118del	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding		3170		chr20	TogoVar
RAB7B_chr1_205971740_206008395	205981580	GAATGTTA others(343): Show GAATGTTAACTGAACACCTACTCTGGTTTCTTTCACAATGTTAACTGAAC ACCTACTGTGGTCTCTTTCAGAATATTAACTGAACACCTACTCTGGTTTC TTTCACAATGTTAACTGAACACCTACTGTGATTTCCTTCACAATGTTAAC TGAACACCTACTCTGGTTTCTTTCAGAATGTTAGCTGAACACCTACTGTG GTCTCCTTCAGAATGTTAACTGAACACCTACTCTGGTTTCTTTCACAATG TTAACTGAACTCCTACTGTGGTCTCTTTCAGAATATTAACTGAACACCTA CTCTGATTTCTTTCACAATGTTAATTGAAAACCTACTGTGATTTCCTTCA C	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	330	0.0030	-350	c.523 others(17): Show c.523-3002_523-2653del	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	5/5			chr1	TogoVar
RPH3AL_chr17_207389_357807	235222	CGGAGGCT others(343): Show CGGAGGCTCCGCACTAACAAGACGGGTCCAGGGTCCAAAGCTGGGGTCGG CCGAGGCTCTACACTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGG CCGAGGCTCTGCACTAACAAGACGGATCCAGGGTTCAAAGCTGGGGTCGG CCGAGGCTCTACACTAACAAGACAGGTCCCGGGTTCAAAGCTGGGGTCGG CCGAGGCTCTGCAGTAACAAGAGGGATGCAGGGTTCAAAGCTGGGGTCGG CCGAGGCTCTGCACTAACAAGACGGATCCAGGGTTCAAAGCTGGGGTCGG CGGAGGCTCCACACTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGG T	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0078 a0001c0004t0001g0078	1	133	0.0075	-350	c.613 others(19): Show c.613+11539_613+11888del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235431	TGCAGTAA others(343): Show TGCAGTAACAAGAGGGATGCAGGGTTCAAAGCTGGGGTCGGCCGAGGCTC TGCACTAACAAGACGGATCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTC CACACTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGTGGAGGCTC CACACTAACAAGACGGATCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTC CACACTAACAAGATGGATCCAGGGTTCAAAGCTGGGGTCAGCGGAGGCTC TACACTAACAAGACAGGTCCCGGGTTCAAAGCTGGGGTCAGCGGAGGTTC CACACTAACAAGACGGATCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTC C	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG01258.hp1 others(7): Show HG01070.hp1 HG01192.hp1 HG01258.hp1 HG01361.hp2 HG01943.hp1 HG01943.hp2 HG02165.hp2 NA18993.hp2 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0006t0004	a0001c0001t0001g0133 a0001c0001t0002g0010 a0001c0001t0002g0061 others(7): Show a0001c0001t0001g0133 a0001c0001t0002g0010 a0001c0001t0002g0061 a0001c0001t0004g0008 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0008g0130 a0001c0001t0013g0107 a0001c0001t0014g0106 a0001c0006t0004g0022	10	133	0.0752	-350	c.613 others(19): Show c.613+11330_613+11679del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(343): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCG CCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTC CCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC CCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGA CCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCC A	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	218	0.0046	-350	c.212 others(17): Show c.212-3656_212-3307del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
TERT_chr5_1248167_1300068	1272525	ACCATCCA others(343): Show ACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACATCAGACCCTACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC G	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0192 a0001c0003t0001g0193	2	392	0.0051	-350	c.228 others(17): Show c.2287-595_2287-246del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	CAGCCTCC others(343): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA G	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02976.hp2 others(1): Show HG01891.hp1 HG02145.hp1 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0010 a0001c0002t0004 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0002t0004 a0001c0004t0008	a0001c0001t0003g0020 a0001c0001t0010g0034 a0001c0002t0004g0023 others(1): Show a0001c0001t0003g0020 a0001c0001t0010g0034 a0001c0002t0004g0023 a0001c0004t0008g0089	4	94	0.0426	-350	c.129 others(21): Show c.1299+34148_1299+34497del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129855518	AGAGTCCG others(343): Show AGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTG CCCTTGTTACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACGGAGT CCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAAC G	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0094 a0001c0001t0027g0094	1	94	0.0106	-350	c.79+ others(17): Show c.79+47393_79+47742del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129856330	GGGGGAAC others(343): Show GGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGT AACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCC CTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCC A	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG01884.hp1 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0003g0065 a0002c0003t0001g0031 a0001c0001t0003g0065 a0002c0003t0001g0031	2	94	0.0213	-350	c.79+ others(17): Show c.79+46581_79+46930del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM239_chr20_2811364_2823062	2822712	CCCGTCTC others(343): Show CCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCC GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT C	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18942.hp1 NA18968.hp2 others(2): Show HG00597.hp2 NA18942.hp1 NA18968.hp2 NA18987.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0002 a0001c0001t0001g0002 a0001c0001t0002g0002	5	400	0.0125	-350	c.57 others(11): Show c.5700_*6049del	TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding		4651		chr20	TogoVar
TMPRSS15_chr21_18264116_18408785	18315339	TTAAACAT others(343): Show TTAAACATGAGTCCTTTGCCACAGCTCAAGGTGGAACCAGCTTTGATACT GAGTAAATGAGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATAC ACAATAACAAACCTGCACGTTGTGCACATGTACCGTAGAACTTAAAGTAT AATAAAATATATATATATAAAATAATAAACATGAGTCCTTTGCCACAGCT CAAGGTGGAGCTAGCTTTGATACTGAGTAAATGACGAGTTAGTGGGTGCA GCACACCAACATGGCACATGTATACACATATAACAAACCTGCACGTTGTG CACATGTACCGTAGAACTTAAAGTATAATAAAATATATATATATAAAATA A	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02273.hp2 HG01258.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0223 a0001c0001t0015g0245 a0001c0001t0001g0223 a0001c0001t0015g0245	2	314	0.0064	-350	c.192 others(16): Show c.1922-433_1922-84del	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	16/24			chr21	TogoVar
TMTC2_chr12_82681906_83139866	82900172	CTGTAGGA others(343): Show CTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATA TACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATA TAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAAT GTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCG GAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTA GGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACAT ATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGAT A	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19240.hp2 HG03041.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0083 a0003c0007t0001g0049 a0001c0001t0001g0083 a0003c0007t0001g0049	2	96	0.0208	-350	c.148 others(19): Show c.1483+3561_1483+3910del	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3268897	TCTGTGTT others(343): Show TCTGTGTTCCTGCAGCCTGCCCTGTGTTCCTGCAGCCTGCCCTCTCTGTG TTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCGTT CCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCCTGTGTTCC TGCAGCCTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTCCCTGTGTTCCTG CAGCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCCTCTGTGCGTTCCTGCA GCTTGCCCTCTGTGCGTTCCTGCAGCCTGCCCTCTGTGTTTTTCCAGCCT GCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGC C	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp1 HG02723.hp2 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0061 a0001c0005t0097 a0001c0005t0061 a0001c0005t0097	a0001c0005t0061g0088 a0001c0005t0097g0132 a0001c0005t0061g0088 a0001c0005t0097g0132	2	288	0.0069	-350	c.64- others(15): Show c.64-9456_64-9107del	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 10000 hits)