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
PACRG_chr6_162722974_163320500	163269849	GAAAGAAA others(81): Show GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02148.hp1 HG02257.hp1 others(3): Show HG01257.hp2 HG02148.hp1 HG02257.hp1 HG03017.hp1 NA18971.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0095 a0001c0001t0001g0110 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128	6	130	0.0462	-88	c.614 others(107): Show c.614-44976_614-44889delAAGAAAGAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAACAAAGAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PADI4_chr1_17303197_17369004	17351984	GGAGAGGC others(81): Show GGAGAGGCAGTCAGGGAGGTGATGGGAGGAGAGGCGGCCAGGGAGGTGAT GGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG04204.hp1 HG00140.hp1 HG04204.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0223 a0003c0003t0001g0185 a0002c0002t0001g0223 a0003c0003t0001g0185	2	372	0.0054	-88	c.115 others(107): Show c.1156-2520_1156-2433delAGAGGCGGCCAGGGAGGTGATGGGAG GAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGA GGTGATGGGAGG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAGE1_chrX_49682447_49700984	49690015	GTGTATAT others(81): Show GTGTATATACACACATATATATGTGTATATATGTGTATATATGTGTATAT ACACACATATATATGTGTATATATGTGTATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG03139.hp1 others(1): Show HG02965.hp1 HG03041.hp2 HG03139.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 others(1): Show a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050	4	322	0.0124	-88	c.293 others(103): Show c.293-560_293-473delTACACATATATACACATATATACACATATA TATGTGTGTATATACACATATATACACATATATACACATATATATGTGTG TATATACA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAX8_chr2_113210997_113283921	113236230	CGGAGGCG others(81): Show CGGAGGCGCGACCCCTCGGCCCAGCTTGAGGCCCGGCCTAGGACCGGAGG CGCGACCCCTCGGCCCACCTTGAGGCCCGGCCTAGGACT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0129 a0001c0002t0003g0129	1	300	0.0033	-88	c.898 others(103): Show c.898+283_898+370delAGTCCTAGGCCGGGCCTCAAGGTGGGCCGA GGGGTCGCGCCTCCGGTCCTAGGCCGGGCCTCAAGCTGGGCCGAGGGGTC GCGCCTCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	8/11			chr2	TogoVar
PAX8_chr2_113210997_113283921	113236290	CGGCCCAC others(81): Show CGGCCCACCTTGAGGCCCGGCCTAGGACTGGAGGCGCGACCCCTCGGCCC ACCTTGAGGCCCGGCCTAGGACCGGAGGCGCGACCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	300	0.0033	-88	c.898 others(103): Show c.898+223_898+310delCAGGGGTCGCGCCTCCGGTCCTAGGCCGGG CCTCAAGGTGGGCCGAGGGGTCGCGCCTCCAGTCCTAGGCCGGGCCTCAA GGTGGGCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	8/11			chr2	TogoVar
PCBP3_chr21_45638725_45947450	45898819	GCCCCTCT others(81): Show GCCCCTCTGCACGCCGTCCTCACGGCCTCCCTCTCTCTCCACGGGCCCCT CTGCACGCCGTCCTCACAGCCTTCCTCTTTTTCCACAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(152): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18951.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0002t0009 a0001c0003t0020 a0001c0004t0002	a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0010 others(152): Show a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0286 a0001c0001t0005g0292 a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0258 a0001c0001t0008g0113 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0013g0182 a0001c0001t0018g0266 a0001c0001t0019g0224 a0001c0001t0021g0085 a0001c0001t0023g0111 a0001c0002t0009g0215 a0001c0002t0009g0285 a0001c0003t0020g0222 a0001c0004t0002g0086 a0001c0004t0002g0087	155	292	0.5308	-88	c.166 others(103): Show c.166-745_166-658delTCTCCACGGGCCCCTCTGCACGCCGTCCTC ACAGCCTTCCTCTTTTTCCACAGACCCCTCTGCACGCCGTCCTCACGGCC TCCCTCTC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH15_chr10_53797771_54806231	53965980	CATCTTAG others(81): Show CATCTTAGAACTTCCTGGATGATTTTTACAGATAAGATTGTATGTATATA AATATGAACATATGACTAAAATAGTTTGCTATCCAGAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp1 others(64): Show HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA19043.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0015 a0016 a0017 a0019 a0020 a0025 a0026 a0028 a0029 a0030 a0032 a0033 a0036	a0001c0001 a0002c0002 a0002c0021 others(24): Show a0001c0001 a0002c0002 a0002c0021 a0002c0039 a0003c0003 a0004c0004 a0005c0005 a0005c0040 a0006c0006 a0007c0007 a0009c0008 a0010c0009 a0011c0017 a0012c0016 a0015c0013 a0016c0012 a0017c0011 a0019c0038 a0020c0027 a0025c0030 a0026c0033 a0028c0034 a0029c0035 a0030c0036 a0032c0024 a0033c0023 a0036c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0020 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0027 a0002c0021t0021 a0002c0039t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0003t0009 a0003c0003t0019 a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0004t0025 a0005c0005t0002 a0005c0005t0005 a0005c0005t0009 a0005c0040t0001 a0006c0006t0002 a0006c0006t0005 a0007c0007t0002 a0007c0007t0022 a0009c0008t0002 a0010c0009t0012 a0011c0017t0002 a0012c0016t0001 a0015c0013t0003 a0016c0012t0001 a0017c0011t0012 a0019c0038t0001 a0020c0027t0001 a0025c0030t0018 a0026c0033t0017 a0028c0034t0013 a0029c0035t0005 a0030c0036t0004 a0032c0024t0001 a0033c0023t0026 a0036c0019t0015	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0043 others(64): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0002g0070 a0001c0001t0003g0010 a0001c0001t0003g0015 a0001c0001t0003g0087 a0001c0001t0003g0098 a0001c0001t0004g0031 a0001c0001t0008g0003 a0001c0001t0014g0074 a0001c0001t0020g0095 a0002c0002t0001g0093 a0002c0002t0002g0037 a0002c0002t0002g0063 a0002c0002t0004g0041 a0002c0002t0005g0016 a0002c0002t0007g0038 a0002c0002t0009g0027 a0002c0002t0027g0064 a0002c0021t0021g0047 a0002c0039t0001g0073 a0003c0003t0001g0009 a0003c0003t0001g0017 a0003c0003t0002g0020 a0003c0003t0003g0033 a0003c0003t0003g0056 a0003c0003t0003g0092 a0003c0003t0004g0005 a0003c0003t0004g0088 a0003c0003t0006g0051 a0003c0003t0009g0018 a0003c0003t0019g0060 a0004c0004t0001g0045 a0004c0004t0001g0059 a0004c0004t0002g0096 a0004c0004t0005g0057 a0004c0004t0025g0032 a0005c0005t0002g0094 a0005c0005t0005g0036 a0005c0005t0009g0085 a0005c0040t0001g0071 a0006c0006t0002g0050 a0006c0006t0005g0055 a0007c0007t0002g0011 a0007c0007t0022g0075 a0009c0008t0002g0049 a0010c0009t0012g0042 a0011c0017t0002g0072 a0012c0016t0001g0028 a0015c0013t0003g0035 a0016c0012t0001g0008 a0017c0011t0012g0086 a0019c0038t0001g0040 a0020c0027t0001g0080 a0025c0030t0018g0007 a0026c0033t0017g0023 a0028c0034t0013g0058 a0029c0035t0005g0100 a0030c0036t0004g0061 a0032c0024t0001g0053 a0033c0023t0026g0082 a0036c0019t0015g0001	67	102	0.6569	-88	c.286 others(107): Show c.2869-4176_2869-4089delTTTCTGGATAGCAAACTATTTTAGTC ATATGTTCATATTTATATACATACAATCTTATCTGTAAAAATCATCCAGG AAGTTCTAAGAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	21/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53965980	CATCTTAG others(81): Show CATCTTAGAACTTCCTGGATGATTTTTACAGATAAGATTGTATGTATATA AATATGAACATATGACTAAAATAGTTTGCTATCCAGAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp1 others(61): Show HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA19043.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0021 a0022 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0032	a0001c0001 a0001c0007 a0002c0002 others(34): Show a0001c0001 a0001c0007 a0002c0002 a0002c0006 a0002c0029 a0002c0045 a0003c0003 a0003c0005 a0003c0024 a0003c0025 a0004c0004 a0004c0044 a0005c0009 a0005c0035 a0005c0036 a0005c0046 a0006c0008 a0006c0042 a0007c0018 a0008c0015 a0009c0013 a0009c0014 a0010c0010 a0011c0021 a0012c0020 a0014c0012 a0015c0011 a0021c0038 a0022c0039 a0024c0040 a0025c0041 a0026c0026 a0027c0027 a0028c0031 a0029c0030 a0030c0028 a0032c0023	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0006t0001 a0002c0006t0005 a0002c0029t0001 a0002c0045t0001 a0003c0003t0001 a0003c0003t0002 a0003c0005t0001 a0003c0024t0001 a0003c0025t0001 a0004c0004t0001 a0004c0004t0005 a0004c0044t0001 a0005c0009t0001 a0005c0035t0001 a0005c0036t0001 a0005c0046t0001 a0006c0008t0001 a0006c0042t0001 a0007c0018t0001 a0008c0015t0001 a0009c0013t0001 a0009c0014t0001 a0010c0010t0003 a0011c0021t0001 a0012c0020t0001 a0014c0012t0001 a0015c0011t0001 a0021c0038t0004 a0022c0039t0001 a0024c0040t0001 a0025c0041t0002 a0026c0026t0001 a0027c0027t0008 a0028c0031t0001 a0029c0030t0001 a0030c0028t0001 a0032c0023t0006	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(61): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0002g0028 a0001c0007t0001g0079 a0001c0007t0001g0087 a0001c0007t0001g0090 a0002c0002t0001g0034 a0002c0002t0001g0085 a0002c0002t0002g0038 a0002c0002t0010g0060 a0002c0006t0001g0016 a0002c0006t0001g0059 a0002c0006t0005g0074 a0002c0029t0001g0024 a0002c0045t0001g0067 a0003c0003t0001g0009 a0003c0003t0001g0017 a0003c0003t0001g0030 a0003c0003t0001g0054 a0003c0003t0001g0084 a0003c0003t0002g0005 a0003c0003t0002g0080 a0003c0005t0001g0020 a0003c0024t0001g0049 a0003c0025t0001g0018 a0004c0004t0001g0037 a0004c0004t0001g0042 a0004c0004t0001g0048 a0004c0004t0001g0055 a0004c0004t0005g0029 a0004c0044t0001g0088 a0005c0009t0001g0033 a0005c0035t0001g0086 a0005c0036t0001g0077 a0005c0046t0001g0065 a0006c0008t0001g0053 a0006c0042t0001g0047 a0007c0018t0001g0046 a0008c0015t0001g0032 a0009c0013t0001g0011 a0009c0014t0001g0069 a0010c0010t0003g0068 a0011c0021t0001g0066 a0012c0020t0001g0025 a0014c0012t0001g0008 a0015c0011t0001g0078 a0021c0038t0004g0007 a0022c0039t0001g0093 a0024c0040t0001g0092 a0025c0041t0002g0057 a0026c0026t0001g0056 a0027c0027t0008g0039 a0028c0031t0001g0051 a0029c0030t0001g0035 a0030c0028t0001g0044 a0032c0023t0006g0001	64	94	0.6809	-88	c.286 others(107): Show c.2869-4176_2869-4089delTTTCTGGATAGCAAACTATTTTAGTC ATATGTTCATATTTATATACATACAATCTTATCTGTAAAAATCATCCAGG AAGTTCTAAGAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	21/32			chr10	TogoVar
PCMT1_chr6_149744741_149816419	149762606	CTATGATA others(81): Show CTATGATATATATATATCTATGATATATATATATCTATGATATATATATG ATATATATATCTATGATATATATATATCTATGATATATA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19060.hp1 NA18962.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0297 a0001c0001t0001g0273 a0001c0001t0001g0297	2	334	0.0060	-88	c.56- others(103): Show c.56-8552_56-8465delGATATATATATATCTATGATATATATATAT CTATGATATATATATGATATATATATCTATGATATATATATATCTATGAT ATATATAT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDGFA_chr7_492258_524846	511253	GGAGGGGA others(81): Show GGAGGGGAACTTAGTCCAGGTGGGGCCAGTGGCTGGGGGTGGGGAGAGGG GAACTTAGTCCAGGTGGGGCCAGAGACTGGGGGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0097 a0001c0002t0097	a0001c0002t0097g0148 a0001c0002t0097g0148	1	302	0.0033	-88	c.266 others(103): Show c.266-345_266-258delTCCCCACCCCCAGTCTCTGGCCCCACCTGG ACTAAGTTCCCCTCTCCCCACCCCCAGCCACTGGCCCCACCTGGACTAAG TTCCCCTC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5			chr7	TogoVar
PDZRN4_chr12_41183320_41579745	41363635	TGCTAGTT others(81): Show TGCTAGTTTGGAGATAAATCATATTATGGCCAAGGGTCATGATGGCAGGA GTAATCAGAGGTGTTCTTGTGTTGTGATAAGGGTGGAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp1 others(149): Show HG00099.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023	a0001c0001 a0001c0004 a0001c0010 others(42): Show a0001c0001 a0001c0004 a0001c0010 a0001c0011 a0001c0013 a0002c0002 a0002c0009 a0002c0015 a0002c0016 a0002c0017 a0002c0019 a0002c0022 a0002c0027 a0002c0030 a0003c0005 a0003c0006 a0003c0031 a0003c0043 a0004c0003 a0004c0012 a0004c0020 a0005c0008 a0005c0028 a0006c0007 a0006c0023 a0006c0049 a0007c0014 a0007c0018 a0008c0025 a0008c0026 a0008c0046 a0008c0057 a0009c0021 a0010c0052 a0011c0047 a0012c0048 a0014c0058 a0015c0050 a0016c0054 a0017c0053 a0018c0035 a0019c0041 a0020c0033 a0021c0039 a0023c0037	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0005 a0001c0010t0001 a0001c0010t0002 a0001c0010t0004 a0001c0011t0003 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0009t0001 a0002c0009t0005 a0002c0015t0001 a0002c0015t0002 a0002c0016t0001 a0002c0017t0002 a0002c0019t0003 a0002c0022t0001 a0002c0027t0001 a0002c0030t0001 a0003c0005t0001 a0003c0006t0001 a0003c0006t0002 a0003c0031t0001 a0003c0043t0001 a0004c0003t0001 a0004c0003t0002 a0004c0012t0001 a0004c0020t0001 a0005c0008t0001 a0005c0028t0001 a0006c0007t0003 a0006c0023t0002 a0006c0049t0002 a0007c0014t0001 a0007c0014t0002 a0007c0018t0001 a0008c0025t0001 a0008c0026t0001 a0008c0046t0001 a0008c0057t0001 a0009c0021t0001 a0010c0052t0001 a0011c0047t0001 a0012c0048t0001 a0014c0058t0001 a0015c0050t0001 a0016c0054t0002 a0017c0053t0001 a0018c0035t0001 a0019c0041t0002 a0020c0033t0006 a0021c0039t0001 a0023c0037t0001	a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0064 others(149): Show a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0002 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0110 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0004t0001g0011 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0069 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0001g0080 a0001c0004t0001g0112 a0001c0004t0001g0157 a0001c0004t0005g0051 a0001c0010t0001g0114 a0001c0010t0001g0121 a0001c0010t0001g0122 a0001c0010t0002g0116 a0001c0010t0004g0118 a0001c0011t0003g0034 a0001c0011t0003g0038 a0001c0011t0003g0052 a0001c0011t0003g0055 a0001c0013t0001g0040 a0001c0013t0001g0062 a0001c0013t0001g0068 a0001c0013t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0099 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0192 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0002g0159 a0002c0002t0002g0164 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0178 a0002c0002t0002g0188 a0002c0002t0002g0195 a0002c0009t0001g0166 a0002c0009t0001g0190 a0002c0009t0001g0196 a0002c0009t0001g0197 a0002c0009t0001g0198 a0002c0009t0005g0194 a0002c0015t0001g0137 a0002c0015t0001g0146 a0002c0015t0002g0136 a0002c0015t0002g0138 a0002c0016t0001g0101 a0002c0016t0001g0171 a0002c0016t0001g0186 a0002c0017t0002g0019 a0002c0019t0003g0167 a0002c0019t0003g0175 a0002c0019t0003g0177 a0002c0022t0001g0140 a0002c0022t0001g0141 a0002c0027t0001g0149 a0002c0030t0001g0090 a0003c0005t0001g0017 a0003c0005t0001g0018 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0053 a0003c0005t0001g0059 a0003c0005t0001g0070 a0003c0005t0001g0071 a0003c0005t0001g0074 a0003c0005t0001g0083 a0003c0006t0001g0005 a0003c0006t0001g0079 a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 a0003c0006t0001g0098 a0003c0006t0002g0073 a0003c0031t0001g0001 a0003c0043t0001g0117 a0004c0003t0001g0003 a0004c0003t0001g0067 a0004c0003t0001g0082 a0004c0003t0001g0104 a0004c0003t0001g0105 a0004c0003t0001g0106 a0004c0003t0001g0108 a0004c0003t0001g0109 a0004c0003t0001g0120 a0004c0003t0001g0123 a0004c0003t0002g0058 a0004c0012t0001g0039 a0004c0020t0001g0004 a0005c0008t0001g0161 a0005c0008t0001g0165 a0005c0008t0001g0182 a0005c0028t0001g0089 a0006c0007t0003g0020 a0006c0007t0003g0022 a0006c0007t0003g0024 a0006c0007t0003g0025 a0006c0007t0003g0026 a0006c0007t0003g0027 a0006c0007t0003g0029 a0006c0007t0003g0033 a0006c0023t0002g0030 a0006c0023t0002g0031 a0006c0049t0002g0028 a0007c0014t0001g0127 a0007c0014t0001g0132 a0007c0014t0002g0130 a0007c0014t0002g0131 a0007c0018t0001g0126 a0007c0018t0001g0128 a0007c0018t0001g0129 a0008c0025t0001g0148 a0008c0026t0001g0147 a0008c0046t0001g0135 a0008c0057t0001g0201 a0009c0021t0001g0142 a0009c0021t0001g0143 a0010c0052t0001g0032 a0011c0047t0001g0139 a0012c0048t0001g0144 a0014c0058t0001g0173 a0015c0050t0001g0023 a0016c0054t0002g0163 a0017c0053t0001g0145 a0018c0035t0001g0094 a0019c0041t0002g0065 a0020c0033t0006g0093 a0021c0039t0001g0043 a0023c0037t0001g0150	152	206	0.7379	-88	c.844 others(109): Show c.844-142820_844-142733delGCTAGTTTGGAGATAAATCATATT ATGGCCAAGGGTCATGATGGCAGGAGTAATCAGAGGTGTTCTTGTGTTGT GATAAGGGTGGAGA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PEPD_chr19_33381950_33526791	33498737	GTCCTGGA others(81): Show GTCCTGGAGGCAGGTGCCCATCCCACCAGGGTCCTCGAGACAGGGTCCTG GAGGCAGGTGCCCATGCCGCCAGAGTCCTTGAGACAGGA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	314	0.0032	-88	c.393 others(105): Show c.393+2113_393+2200delTCCTGTCTCAAGGACTCTGGCGGCATGG GCACCTGCCTCCAGGACCCTGTCTCGAGGACCCTGGTGGGATGGGCACCT GCCTCCAGGA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	4/14			chr19	TogoVar
PGA4_chr11_61217347_61236694	61221869	GGAGAAAG others(81): Show GGAGAAAGAGAGGAAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG AGAAAGAGAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00558.hp2 others(145): Show HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19078.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0000 a0001 a0003 others(4): Show a0000 a0001 a0003 a0004 a0007 a0008 a0010	a0000c0009 a0001c0001 a0001c0003 others(7): Show a0000c0009 a0001c0001 a0001c0003 a0001c0005 a0001c0017 a0003c0004 a0004c0006 a0007c0014 a0008c0018 a0010c0012	a0000c0009t0005 a0001c0001t0001 a0001c0001t0002 others(13): Show a0000c0009t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0003t0001 a0001c0005t0001 a0001c0017t0001 a0003c0004t0001 a0004c0006t0001 a0007c0014t0001 a0008c0018t0001 a0010c0012t0001	a0000c0009t0005g0108 a0001c0001t0001g0001 a0001c0001t0001g0003 others(64): Show a0000c0009t0005g0108 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0002g0001 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0003g0001 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0004g0025 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0006g0001 a0001c0001t0006g0005 a0001c0001t0007g0009 a0001c0001t0007g0078 a0001c0001t0010g0006 a0001c0003t0001g0006 a0001c0005t0001g0040 a0001c0005t0001g0115 a0001c0017t0001g0018 a0003c0004t0001g0087 a0004c0006t0001g0020 a0004c0006t0001g0109 a0007c0014t0001g0061 a0008c0018t0001g0059 a0010c0012t0001g0003	148	304	0.4868	-88	c.-53 others(97): Show c.-531_-444delGAGAAAGAGAGGAAAAGAAAGAAAGAAAGAAAGAAA GAGAGAGAGAGAGAGAAAGAGAGAAAGAGAAAGAAAGAAAAGAAAGAAAG AA	PGA4	ENSG00000229183.10	transcript	ENST00000378149.9	protein_coding		477		chr11	TogoVar
PGA5_chr11_61236175_61256444	61240695	GGAGAAAG others(81): Show GGAGAAAGAGAGGAAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG AGAAAGAGAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG01884.hp1 others(40): Show HG01081.hp1 HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02027.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 NA18982.hp1 NA19005.hp2 NA19084.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0013 a0003c0011 a0004c0031	a0001c0001t0003 a0001c0002t0002 a0001c0004t0003 others(7): Show a0001c0001t0003 a0001c0002t0002 a0001c0004t0003 a0001c0005t0002 a0001c0007t0002 a0001c0007t0003 a0001c0010t0002 a0001c0013t0002 a0003c0011t0003 a0004c0031t0003	a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0050 others(28): Show a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0050 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0002t0002g0029 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0067 a0001c0004t0003g0047 a0001c0004t0003g0158 a0001c0004t0003g0159 a0001c0005t0002g0027 a0001c0005t0002g0046 a0001c0005t0002g0145 a0001c0005t0002g0146 a0001c0005t0002g0148 a0001c0005t0002g0149 a0001c0005t0002g0150 a0001c0005t0002g0160 a0001c0005t0002g0161 a0001c0005t0002g0182 a0001c0007t0002g0077 a0001c0007t0003g0013 a0001c0010t0002g0032 a0001c0013t0002g0183 a0003c0011t0003g0151 a0004c0031t0003g0147	43	406	0.1059	-88	c.-53 others(97): Show c.-531_-444delGAGAAAGAGAGGAAAAGAAAGAAAGAAAGAAAGAAA GAGAGAGAGAGAGAGAAAGAGAGAAAGAGAAAGAAAGAAAAGAAAGAAAG AA	PGA5	ENSG00000256713.8	transcript	ENST00000312403.10	protein_coding		479		chr11	TogoVar
PHKA2_chrX_18887298_18989114	18972722	TATGGGAA others(81): Show TATGGGAAGCTTGCTTGAAAAATGGAAAACTCTAGTTCCAGTCACTTTGG GTTTTCTGTAGCACTTTTTTCCTGCAAATAATAATCTCC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	201	0.0050	-88	c.78+ others(105): Show c.78+11045_78+11132delGGAGATTATTATTTGCAGGAAAAAAGTG CTACAGAAAACCCAAAGTGACTGGAACTAGAGTTTTCCATTTTTCAAGCA AGCTTCCCAT	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	1/32			chrX	TogoVar
PITPNM3_chr17_6446263_6561555	6560688	CTTCTCAT others(81): Show CTTCTCATTCTCTCTCTTCTCCTCCTCTTCCTCCTCCTCCTTCTCCTCCT CCTTCTCATTGTCCTCCTTCTCCTCCTCTTCCTCCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG03209.hp1 others(3): Show HG01891.hp2 HG02451.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 others(1): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023	a0001c0001t0011g0184 a0001c0001t0013g0195 a0001c0001t0022g0152 others(3): Show a0001c0001t0011g0184 a0001c0001t0013g0195 a0001c0001t0022g0152 a0001c0001t0022g0196 a0001c0001t0023g0193 a0001c0001t0023g0194	6	218	0.0275	-88	c.-43 others(99): Show c.-4370_-4283delAGGAGGAGGAAGAGGAGGAGAAGGAGGACAATGA GAAGGAGGAGGAGAAGGAGGAGGAGGAAGAGGAGGAGAAGAGAGAGAATG AGAA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4134		chr17	TogoVar
PKP3_chr11_389209_409908	399283	TCCACCTG others(81): Show TCCACCTGCCCACCATCTGCCCCCCTTCTCCACCTGCCCCCTCTGCCACC TGCCCCCCTACTCCTCCTCCCCCCCTCTGCCTTACCCCC	T T	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp2 NA18980.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0013 a0001c0001t0001g0040	2	216	0.0093	-88	c.127 others(104): Show c.1273+98_1273+185delACCATCTGCCCCCCTTCTCCACCTGCCCC CTCTGCCACCTGCCCCCCTACTCCTCCTCCCCCCCTCTGCCTTACCCCCC CACCTGCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCH2_chr1_2471289_2510532	2483897	TGGGGGGG others(81): Show TGGGGGGGCGCTGACTCCCGTGTGGGGGGGCGCTGACTCCCGTGTGGGTG GCGCTGACTCCCGTGTGGGGGGGCGCTGACTCCCGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	383	0.0026	-88	c.646 others(103): Show c.646-544_646-457delGCGCTGACTCCCGTGTGGGGGGGCGCTGAC TCCCGTGTGGGTGGCGCTGACTCCCGTGTGGGGGGGCGCTGACTCCCGTG TGGGGGGG	PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLD1_chr3_171595404_171815483	171673876	ATATTTGA others(81): Show ATATTTGAGCTGTAGTTGGTAAAGGAAGCAGATTGGGTAACACTGGACCA GACTAGGATTTCAAGCTCCACCTCTGTTGATAACTAGCT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG03139.hp1 others(1): Show HG02723.hp1 HG02895.hp1 HG03139.hp1 HG03471.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0174 a0004c0008t0004g0207 a0004c0008t0004g0208 others(1): Show a0004c0008t0004g0174 a0004c0008t0004g0207 a0004c0008t0004g0208 a0004c0008t0004g0248	4	294	0.0136	-88	c.222 others(105): Show c.2229+536_2229+623delAGCTAGTTATCAACAGAGGTGGAGCTTG AAATCCTAGTCTGGTCCAGTGTTACCCAATCTGCTTCCTTTACCAACTAC AGCTCAAATA	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	19/26			chr3	TogoVar
PLEC_chr8_143910153_143944597	143912432	ACGGCACG others(81): Show ACGGCACGATACCAGACACGGCAGGATGATGCCAGACCCAGCACGATGCC AGGCACGGCACGATACCAGACCCAGCACGATACCAGGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01074.hp1 others(32): Show HG00639.hp2 HG00642.hp1 HG01074.hp1 HG01167.hp2 HG01168.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02040.hp2 HG02135.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 NA18964.hp2 NA18970.hp1 NA18986.hp1 NA19002.hp1 NA19009.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0036 a0037 a0064 a0065 a0066 a0080 a0089	a0001c0001 a0001c0145 a0001c0146 others(19): Show a0001c0001 a0001c0145 a0001c0146 a0001c0170 a0002c0058 a0003c0004 a0003c0030 a0003c0032 a0003c0125 a0003c0128 a0003c0129 a0003c0131 a0003c0168 a0005c0173 a0007c0039 a0036c0195 a0037c0108 a0064c0121 a0065c0124 a0066c0166 a0080c0184 a0089c0090	a0001c0001t0001 a0001c0145t0001 a0001c0146t0001 others(19): Show a0001c0001t0001 a0001c0145t0001 a0001c0146t0001 a0001c0170t0001 a0002c0058t0001 a0003c0004t0001 a0003c0030t0001 a0003c0032t0001 a0003c0125t0001 a0003c0128t0001 a0003c0129t0001 a0003c0131t0001 a0003c0168t0001 a0005c0173t0001 a0007c0039t0003 a0036c0195t0001 a0037c0108t0001 a0064c0121t0001 a0065c0124t0001 a0066c0166t0001 a0080c0184t0003 a0089c0090t0001	a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0145t0001g0193 others(23): Show a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0145t0001g0193 a0001c0146t0001g0194 a0001c0170t0001g0137 a0002c0058t0001g0082 a0003c0004t0001g0007 a0003c0004t0001g0012 a0003c0030t0001g0032 a0003c0032t0001g0157 a0003c0032t0001g0239 a0003c0125t0001g0149 a0003c0128t0001g0156 a0003c0129t0001g0181 a0003c0131t0001g0159 a0003c0168t0001g0167 a0005c0173t0001g0169 a0007c0039t0003g0043 a0007c0039t0003g0102 a0036c0195t0001g0170 a0037c0108t0001g0147 a0064c0121t0001g0182 a0065c0124t0001g0224 a0066c0166t0001g0162 a0080c0184t0003g0103 a0089c0090t0001g0142	35	358	0.0978	-88	c.36 others(99): Show c.3657_*3744delGGCCTGGTATCGTGCTGGGTCTGGTATCGTGCCG TGCCTGGCATCGTGCTGGGTCTGGCATCATCCTGCCGTGTCTGGTATCGT GCCG	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding		2720		chr8	TogoVar
PLEC_chr8_143910153_143978529	143912432	ACGGCACG others(81): Show ACGGCACGATACCAGACACGGCAGGATGATGCCAGACCCAGCACGATGCC AGGCACGGCACGATACCAGACCCAGCACGATACCAGGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01074.hp1 others(23): Show HG00639.hp2 HG00642.hp1 HG01074.hp1 HG01167.hp2 HG01168.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02040.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp1 NA18970.hp1 NA19056.hp1 NA21309.hp2	a0001 a0003 a0007 others(4): Show a0001 a0003 a0007 a0033 a0059 a0060 a0074	a0001c0001 a0001c0127 a0001c0128 others(12): Show a0001c0001 a0001c0127 a0001c0128 a0001c0149 a0003c0004 a0003c0105 a0003c0110 a0003c0113 a0003c0114 a0003c0148 a0007c0035 a0033c0092 a0059c0109 a0060c0146 a0074c0160	a0001c0001t0001 a0001c0127t0001 a0001c0128t0001 others(12): Show a0001c0001t0001 a0001c0127t0001 a0001c0128t0001 a0001c0149t0001 a0003c0004t0001 a0003c0105t0001 a0003c0110t0001 a0003c0113t0001 a0003c0114t0001 a0003c0148t0001 a0007c0035t0003 a0033c0092t0001 a0059c0109t0001 a0060c0146t0001 a0074c0160t0003	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0190 others(22): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0127t0001g0203 a0001c0128t0001g0233 a0001c0149t0001g0241 a0003c0004t0001g0004 a0003c0004t0001g0217 a0003c0004t0001g0218 a0003c0004t0001g0224 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0298 a0003c0105t0001g0229 a0003c0110t0001g0168 a0003c0113t0001g0146 a0003c0114t0001g0167 a0003c0148t0001g0280 a0007c0035t0003g0100 a0007c0035t0003g0103 a0033c0092t0001g0285 a0059c0109t0001g0270 a0060c0146t0001g0272 a0074c0160t0003g0099	26	302	0.0861	-88	c.36 others(99): Show c.3657_*3744delGGCCTGGTATCGTGCTGGGTCTGGTATCGTGCCG TGCCTGGCATCGTGCTGGGTCTGGCATCATCCTGCCGTGTCTGGTATCGT GCCG	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding		2720		chr8	TogoVar
PLEKHG4B_chr5_87168_194966	164869	GTAATGCT others(81): Show GTAATGCTCTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGG AGCTCACACTAATGCTGTGACGGGGCGGGGCTTACACAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01081.hp1 others(1): Show HG00140.hp2 HG00738.hp1 HG01081.hp1 HG02735.hp2	a0002 a0004 a0024 a0002 a0004 a0024	a0002c0005 a0004c0006 a0024c0042 a0002c0005 a0004c0006 a0024c0042	a0002c0005t0129 a0004c0006t0002 a0024c0042t0006 a0002c0005t0129 a0004c0006t0002 a0024c0042t0006	a0002c0005t0129g0043 a0004c0006t0002g0065 a0004c0006t0002g0119 others(1): Show a0002c0005t0129g0043 a0004c0006t0002g0065 a0004c0006t0002g0119 a0024c0042t0006g0012	4	210	0.0191	-88	c.347 others(107): Show c.3476+1350_3476+1437delAGTAATGCTGTGACGGGGCGGAGCTC ACACTAATGCTGTGACGGGGCGGGGCTTACACACTAATGCTCTGACGGGG CGGAGCTCACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POTEG_chr14_19397486_19439341	19432394	ATATATAT others(81): Show ATATATATATACACACACATGTATATATATGTATATACGTATATATATAT ATACATATATATATACATATATACATATATATACATGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03195.hp1 HG00323.hp2 HG03195.hp1	a0021 a0029 a0021 a0029	a0021c0039 a0029c0033 a0021c0039 a0029c0033	a0021c0039t0013 a0029c0033t0007 a0021c0039t0013 a0029c0033t0007	a0021c0039t0013g0026 a0029c0033t0007g0005 a0021c0039t0013g0026 a0029c0033t0007g0005	2	111	0.0180	-88	c.521 others(105): Show c.521+1287_521+1374delCACATGTATATATATGTATATATGTATA TATATATGTATATATATATATACGTATATACATATATATACATGTGTGTG TATATATATA	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding	1/10			chr14	TogoVar
PPP1R9A_chr7_94902594_95301400	95072735	ATAATATA others(81): Show ATAATATAATATATAATATTATATTAAATATATATATTAAATATATATAT TTATATATTATATTTATAATTATTATATATAATAATTAT	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0238 a0005c0006t0001g0238	1	290	0.0035	-88	c.139 others(109): Show c.1396-38521_1396-38434delATATAATATATAATATTATATTAA ATATATATATTAAATATATATATTTATATATTATATTTATAATTATTATA TATAATAATTATTA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP6R2_chr22_50338327_50450090	50381300	CCACACGG others(81): Show CCACACGGGCCCCACCTCAGCATCACACGGGCCTCACCTCAGCATCACAC GGGCCCCACCTCAGCACCACACGGGCCCCACCTCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02258.hp1 others(5): Show HG02055.hp2 HG02109.hp2 HG02258.hp1 HG03041.hp1 HG03453.hp2 HG03579.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0008 others(1): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0008 a0001c0003t0009	a0001c0001t0002g0082 a0001c0003t0002g0081 a0001c0003t0002g0084 others(5): Show a0001c0001t0002g0082 a0001c0003t0002g0081 a0001c0003t0002g0084 a0001c0003t0008g0293 a0001c0003t0008g0300 a0001c0003t0008g0305 a0001c0003t0009g0083 a0001c0003t0009g0085	8	340	0.0235	-88	c.-17 others(105): Show c.-17+9172_-17+9259delTCACACGGGCCTCACCTCAGCATCACAC GGGCCCCACCTCAGCACCACACGGGCCCCACCTCAGCATCACACGGGCCC CACCTCAGCA	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRIMPOL_chr4_184644738_184699952	184652966	AAAGAAGA others(81): Show AAAGAAGAGGGAGGGAGGAAGGAAGGAAGGAAGAAGGGAAGGAAGGAAGG AAAGAAGGGAAAGAAGAGGGAGGGAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0077 a0009c0014t0001g0077	1	328	0.0031	-88	c.-60 others(103): Show c.-60+873_-60+960delAGGGAGGGAGGAAGGAAGGAAGGAAGAAGG GAAGGAAGGAAGGAAAGAAGGGAAAGAAGAGGGAGGGAGGAAGGAAGGAA GGAAGAAG	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCB_chr16_23830983_24225611	24021205	TCTTTCTT others(81): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCTTCC TTTCTTCCTTTCTTTTTCTTTCTTTTCTCCCTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0048 a0001c0018t0008g0048	1	148	0.0068	-88	c.289 others(107): Show c.289-10929_289-10842delTTTCTTTCTTTCTTTCTTTCTTTCTT TCCTTCCTTCCTTCCTTCTTCCTTTCTTCCTTTCTTTTTCTTTCTTTTCT CCCTCTCCCTCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRPF6_chr20_63976132_64038100	64017198	TTCCCAAA others(81): Show TTCCCAAAGTGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGCCTCCCA GAGTGCTGGGATCACAGGCGTGAGCCGCCATGCCTGGCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	294	0.0034	-88	c.164 others(105): Show c.1647+429_1647+516delGCCATGCCTGGCCTCCCAAAGTGCTGGG ATCACAGGCGTGAGCCACCGCGCCCGGCCTCCCAGAGTGCTGGGATCACA GGCGTGAGCC	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64017366	CGCCCGGC others(81): Show CGCCCGGCCTCCCAGAGTGCTGGGATCACAGGCGTGAGCCGCCGCGCCCG GCCTCCCAGAGTGCTGGGATCACAGGCGTGAGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0248 a0001c0004t0005g0248	1	294	0.0034	-88	c.164 others(105): Show c.1647+608_1647+695delCTGCCCGGCCTCCCAGAGTGCTGGGATC ACAGGCGTGAGCCGCCGCGCCCGGCCTCCCAGAGTGCTGGGATCACAGGC GTGAGCCGCC	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRRC2B_chr9_131389086_131505193	131454847	GCTGGTCT others(81): Show GCTGGTCTCAAACTCCTGACCTCATGATCCGCCCACCTCAGCCTCGCAAA GTACTGGGATTACAGGCATGAGCCACCATGTTGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG03225.hp1 others(2): Show HG02055.hp1 HG02723.hp2 HG03225.hp1 HG03540.hp2 NA20129.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0010 a0002c0007t0014 a0002c0007t0010 a0002c0007t0014	a0002c0007t0010g0201 a0002c0007t0010g0202 a0002c0007t0010g0203 others(2): Show a0002c0007t0010g0201 a0002c0007t0010g0202 a0002c0007t0010g0203 a0002c0007t0014g0002 a0002c0007t0014g0012	5	216	0.0232	-88	c.112 others(105): Show c.1121-211_1121-124delACCTCATGATCCGCCCACCTCAGCCTCG CAAAGTACTGGGATTACAGGCATGAGCCACCATGTTGGTCAGTCTGGTCT CAAACTCCTG	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131454865	ACCTCATG others(81): Show ACCTCATGATCCGCCCACCTCAGCCTCGCAAAGTACTGGGATTACAGGCA TGAGCCACCATGTTGGTCAGTCTGGTCTCAAACTCCTGT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01515.hp1 others(10): Show HG01192.hp1 HG01257.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp1 HG02055.hp2 HG04228.hp2 NA18947.hp1 NA18990.hp2 NA19057.hp2 NA19064.hp1 NA19067.hp2 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0019 a0002c0023 others(1): Show a0002c0003 a0002c0019 a0002c0023 a0002c0038	a0002c0003t0003 a0002c0019t0001 a0002c0019t0011 others(2): Show a0002c0003t0003 a0002c0019t0001 a0002c0019t0011 a0002c0023t0012 a0002c0038t0012	a0002c0003t0003g0016 a0002c0003t0003g0018 a0002c0003t0003g0025 others(10): Show a0002c0003t0003g0016 a0002c0003t0003g0018 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0019t0001g0023 a0002c0019t0011g0022 a0002c0023t0012g0029 a0002c0038t0012g0171	13	216	0.0602	-88	c.112 others(104): Show c.1121-151_1121-64delTGTTGGTCAGTCTGGTCTCAAACTCCTGT CCTCATGATCCGCCCACCTCAGCCTCGCAAAGTACTGGGATTACAGGCAT GAGCCACCA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTPN2_chr18_12787152_12889237	12870338	TATACATA others(81): Show TATACATATATATGTGTATATATATGTGTATATATACATATATATACGTA TATATGTATATATACACGTATATATATGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19240.hp1 HG02451.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0083 a0001c0001t0011g0084 a0001c0001t0011g0083 a0001c0001t0011g0084	2	370	0.0054	-88	c.70- others(105): Show c.70-11172_70-11085delGTATATATATACATATATATACGTGTAT ATATACATATATACGTATATATATGTATATATACACATATATATACACAT ATATATGTAT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
RAB31_chr18_9703301_9867551	9848338	ATCCATCT others(81): Show ATCCATCTGTCCGTCTATCTATCTATTCATCTGTACATCTGTCTGTCTAG TCATCTGTCTATCTAGCCATCCGTCTGTCTGTCCATCTG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0209 a0001c0001t0027g0209	1	322	0.0031	-88	c.490 others(105): Show c.490+2660_490+2747delTCTATCTATCTATTCATCTGTACATCTG TCTGTCTAGTCATCTGTCTATCTAGCCATCCGTCTGTCTGTCCATCTGTC CATCTGTCCG	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB40C_chr16_585066_634268	631741	TTCACTGC others(81): Show TTCACTGCCTCTCCTTCCATCCTCTCCTCCCACCCTCTCCTCCCATCCAC TCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACCCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02602.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp2 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19064.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022	a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 others(101): Show a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0111 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0009g0316 a0001c0001t0009g0317 a0001c0001t0011g0291 a0001c0001t0011g0302 a0001c0001t0016g0321 a0001c0001t0018g0091 a0001c0001t0019g0003 a0001c0001t0022g0002	112	350	0.3200	-88	c.41 others(99): Show c.4120_*4207delTCACTGCCTCTCCTTCCATCCTCTCCTCCCACCC TCTCCTCCCATCCACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCAC CCCG	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2474		chr16	TogoVar
RAB40C_chr16_585066_634268	632022	TTCACTGC others(81): Show TTCACTGCCTCTCCTCCCACCCTCTCCTCCCATCCACTCCTCCCATCCAC TCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACCCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03130.hp1 HG02622.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0157 a0001c0001t0007g0159 a0001c0001t0007g0157 a0001c0001t0007g0159	2	350	0.0057	-88	c.44 others(99): Show c.4401_*4488delTCACTGCCTCTCCTCCCACCCTCTCCTCCCATCC ACTCCTCCCATCCACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCAC CCCG	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2755		chr16	TogoVar
RABGAP1_chr9_122936020_123109866	123076430	GAAGAAAT others(81): Show GAAGAAATATCTTCTGGGGATTATAAAAGTGCTGGAAATCTAGCATTACC CCTAACAGTGGATGTATGCAGGTGGCTCTGACAAAAGCT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0235 a0001c0001t0014g0235	1	258	0.0039	-88	c.229 others(105): Show c.2295+150_2296-111delATATCTTCTGGGGATTATAAAAGTGCTG GAAATCTAGCATTACCCCTAACAGTGGATGTATGCAGGTGGCTCTGACAA AAGCTAAGAA	RABGAP1	ENSG00000011454.18	transcript	ENST00000373647.9	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RABL6_chr9_136802948_136846187	136833188	TGGGGACC others(81): Show TGGGGACCTGAACCTCCTCGCCCTGGGCTGCCCCAGCTGGGTCTGGGGGA CCTGAACCTCCTCGCCCTGGGCTGCCCCAGCTGGGTCTG	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	330	0.0030	-88	c.705 others(103): Show c.705+858_705+945delGTCTGGGGGACCTGAACCTCCTCGCCCTGG GCTGCCCCAGCTGGGTCTGGGGGACCTGAACCTCCTCGCCCTGGGCTGCC CCAGCTGG	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
RBFOX3_chr17_79084345_79616051	79483987	CCAAACAG others(81): Show CCAAACAGTGTATGTGTGCCATCAGCCAGACAGGACACAAAAACGGTTTA GGAGATCCACTCTGATTAGCCTGAGAGACTGTCTCTGGG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	154	0.0065	-88	c.-31 others(107): Show c.-319-1477_-319-1390delCCCAGAGACAGTCTCTCAGGCTAATC AGAGTGGATCTCCTAAACCGTTTTTGTGTCCTGTCTGGCTGATGGCACAC ATACACTGTTTG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79484462	AGGGCCTG others(81): Show AGGGCCTGGGTGCAGGGGGCCTGGGTGCAGGGGCCTGGGTGCAGGGGGCC TGGGTGCAGGGGGCCTGGGTGCAGGGGCCTGGGTGCAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00642.hp2 others(23): Show HG00423.hp2 HG00438.hp2 HG00642.hp2 HG01934.hp2 HG01993.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02723.hp1 HG02809.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp2 HG03710.hp2 HG06807.hp2 NA18945.hp2 NA18952.hp1 NA18970.hp2 NA18983.hp2 NA19030.hp2 NA19043.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0002g0101 a0001c0001t0002g0146 a0001c0001t0003g0043 a0001c0001t0004g0092 a0001c0001t0004g0123 a0001c0001t0004g0133 a0001c0001t0005g0121 a0001c0001t0005g0142 a0001c0001t0006g0112 a0001c0001t0008g0096 a0001c0001t0009g0088 a0001c0001t0015g0018 a0001c0002t0001g0044 a0001c0002t0001g0080 a0001c0002t0002g0139 a0001c0002t0002g0145 a0001c0002t0003g0047 a0001c0002t0003g0076 a0001c0002t0007g0031	26	154	0.1688	-88	c.-31 others(107): Show c.-319-1952_-319-1865delCCTGCACCCAGGCCCCTGCACCCAGG CCCCCTGCACCCAGGCCCCCTGCACCCAGGCCCCTGCACCCAGGCCCCCT GCACCCAGGCCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RERE_chr1_8347404_8822640	8668936	GTGTGTGT others(81): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTTTTTAAGACAGGGTCTC ACTCTGTCTTCTGTGAATATTCTAAAATGCACTCAACTC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	204	0.0049	-88	c.-14 others(109): Show c.-144-12583_-144-12496delGAGTTGAGTGCATTTTAGAATATT CACAGAAGACAGAGTGAGACCCTGTCTTAAAAACACAACACACACACACA CACACACACACACA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RHCG_chr15_89466407_89501583	89474896	TCCTTCCT others(81): Show TCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTGCCTTCCTGCCTTCCTGC CTTCATTCATTCCTGCCTGCCTGCCTTCATTCATTCCTG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02622.hp1 others(4): Show HG01106.hp1 HG01884.hp1 HG02622.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp2 HG06807.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0012 a0008c0011 a0001c0001 a0001c0012 a0008c0011	a0001c0001t0003 a0001c0012t0003 a0008c0011t0003 a0001c0001t0003 a0001c0012t0003 a0008c0011t0003	a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0106 others(4): Show a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0289 a0001c0012t0003g0056 a0008c0011t0003g0057	7	360	0.0194	-88	c.131 others(107): Show c.1311+1771_1311+1858delCAGGAATGAATGAAGGCAGGCAGGCA GGAATGAATGAAGGCAGGAAGGCAGGAAGGCAGGCAGGCAGGAAGGAAGG CAGGCAGGAAGG	RHCG	ENSG00000140519.14	transcript	ENST00000268122.9	protein_coding	9/10			chr15	TogoVar
RHEX_chr1_206048173_206107449	206064455	GCCCGACC others(81): Show GCCCGACCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGAATGAGGATGATTGTTGGTCAGCCCCCCA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	334	0.0030	-88	c.-97 others(107): Show c.-97+11195_-97+11282delACCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGAATGAGGATGATTGTTGGTCA GCCCCCCACCCG	RHEX	ENSG00000263961.8	transcript	ENST00000331555.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMS1_chr6_71881550_72408145	72152977	ATATGTAT others(81): Show ATATGTATATATGGAATATATGTTTATATATGTATATATATGTGTGTGTG TATATATGTGTGTGTGTGTATATATATGTATATATTCCC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0070 a0001c0006t0002g0070	1	140	0.0071	-88	c.472 others(107): Show c.472-26586_472-26499delGGAATATATGTTTATATATGTATATA TATGTGTGTGTGTATATATGTGTGTGTGTGTATATATATGTATATATTCC CTATGTATATAT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF223_chr1_1065967_1079306	1076410	CTGAGGCT others(81): Show CTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCG TGGGGCAGGCTGAGGCTATGGTGACTCCGTGCAGGGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01934.hp1 HG03491.hp2 others(2): Show HG01071.hp2 HG01934.hp1 HG03491.hp2 HG03492.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0003 a0002c0003t0003 a0001c0001t0001 a0002c0002t0003 a0002c0003t0003	a0001c0001t0001g0001 a0002c0002t0003g0009 a0002c0003t0003g0010 others(1): Show a0001c0001t0001g0001 a0002c0002t0003g0009 a0002c0003t0003g0010 a0002c0003t0003g0030	5	324	0.0154	-88	c.-24 others(99): Show c.-2492_-2405delCAGCCCTGCACGGAGTCACCATAGCCTCAGCCTG CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCA	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2105		chr1	TogoVar
RNFT2_chr12_116733315_116858631	116841782	TATATATA others(81): Show TATATATATATAAATATATATATAAATATATATATAAAAATATATATATA TAAATATATATATAAATATATATAAAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0051 a0001c0009t0051	a0001c0009t0051g0016 a0001c0009t0051g0016	1	268	0.0037	-88	c.120 others(107): Show c.1200+5522_1200+5609delTAAATATATATATAAAAATATATATA TATAAATATATATATAAATATATATAAAAATATATATATAAATATATATA TAAATATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116841804	TAAATATA others(81): Show TAAATATATATATAAAAATATATATATATAAATATATATATAAATATATA TAAAAATATATATATAAATATATATATAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG00741.hp2 others(7): Show HG00423.hp1 HG00673.hp2 HG00741.hp2 HG02135.hp1 HG03017.hp1 HG03834.hp1 HG03942.hp2 NA18994.hp1 NA18994.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0015	a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0224 others(7): Show a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0224 a0001c0001t0003g0117 a0001c0001t0004g0128 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0081 a0001c0002t0015g0082	10	268	0.0373	-88	c.120 others(107): Show c.1200+5536_1200+5623delAAAATATATATATATAAATATATATA TAAATATATATAAAAATATATATATAAATATATATATAAATATATATAAA AATATATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116841832	TAAATATA others(81): Show TAAATATATATATAAATATATATAAAAATATATATATAAATATATATATA AATATATATAAAAATATATATATATAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0011 a0001c0006 a0001c0011	a0001c0006t0036 a0001c0011t0053 a0001c0006t0036 a0001c0011t0053	a0001c0006t0036g0018 a0001c0011t0053g0011 a0001c0006t0036g0018 a0001c0011t0053g0011	2	268	0.0075	-88	c.120 others(107): Show c.1200+5564_1200+5651delAATATATATAAAAATATATATATAAA TATATATATAAATATATATAAAAATATATATATATAAATATATATATAAA AATATATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ROBO2_chr3_77035099_77654964	77164922	TCCGGGAG others(81): Show TCCGGGAGGGAGGTGGGGGCGGTCAGCCCCCCAACCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCGGCCCTTA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0002 a0009c0007t0002	a0009c0007t0002g0088 a0009c0007t0002g0088	1	160	0.0063	-88	c.388 others(107): Show c.388+66584_388+66671delCGGGAGGGAGGTGGGGGCGGTCAGCC CCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCGGCCCTTAC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RORA_chr15_60483284_61234302	60597541	ACACACAC others(81): Show ACACACACAACATATATATATATATATATATATACACATATATATATATA TATACACATATATATATATATATATATACATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0016 a0001c0001t0028g0016	1	118	0.0085	-88	c.197 others(107): Show c.197-65778_197-65691delATATATGTATGTATATATATATATAT ATATATGTGTATATATATATATATATGTGTATATATATATATATATATAT ATGTTGTGTGTG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORC_chr1_151801071_151836802	151808867	TGGAAAAC others(81): Show TGGAAAACTGGGGGAAGAACCCTCCAGGTGACTACAATAGCAGGTACAAA AGCCCTGCGACTGGGTTTGATGTGTTCGAGGAATAGCAA	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	430	0.0023	-88	c.139 others(107): Show c.1396-1322_1396-1235delTTGCTATTCCTCGAACACATCAAACC CAGTCGCAGGGCTTTTGTACCTGCTATTGTAGTCACCTGGAGGGTTCTTC CCCCAGTTTTCC	RORC	ENSG00000143365.20	transcript	ENST00000318247.7	protein_coding	10/10			chr1	TogoVar

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Search Results (Total: 10000 hits)