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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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
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(698): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTCGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCG ATCTCG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	396	0.0025	705	c.907 others(722): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTCGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGA ATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(698): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGATTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCTGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCG ATCTCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	396	0.0025	705	c.907 others(722): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGATTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGA ATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(698): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCATGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCG ATCTCG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp2 HG01106.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0181 a0001c0001t0003g0182	2	396	0.0051	705	c.907 others(722): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGA ATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(698): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCACCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCAAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCG ATCTCG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0125 a0001c0001t0006g0125	1	396	0.0025	705	c.907 others(722): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCAAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGA ATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(698): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCG ATCTCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(74): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02083.hp2 HG02148.hp2 HG02155.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18942.hp2 NA18951.hp1 NA18980.hp2 NA18986.hp2 NA19006.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0003t0012 a0003c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0030 others(62): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0075 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0293 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0003g0195 a0001c0001t0003g0262 a0001c0001t0004g0217 a0001c0001t0004g0223 a0001c0001t0004g0230 a0001c0001t0005g0016 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0063 a0001c0001t0005g0267 a0001c0001t0014g0044 a0001c0003t0012g0248 a0003c0005t0001g0234	77	396	0.1944	705	c.907 others(722): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGA ATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(698): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGT TTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCT GGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCG GTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACA AAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCC ATCTCAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTGTTTCCTTTATACTCTATAG TTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTT TTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCG ATCTCG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0285 a0001c0001t0007g0285	1	396	0.0025	705	c.907 others(722): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGGCTACAGGCATCCGCCACC ATGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTC CAATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATC TCGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGC TACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGT CTCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGC AGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGAC AGTGCGAGACTCCATCTCAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTGTTTCCT TTATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTT TTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGA ATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(698): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCG ATCTCG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	396	0.0025	705	c.907 others(722): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCATGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGA ATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGCATGAC others(698): Show AGCATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0007	1	340	0.0029	705	c.227 others(722): Show c.227+3604_227+3605insCATGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTC CTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTTCAGCA others(698): Show CTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGC CAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTG TCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCT CCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGC GAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCT CCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGC AAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGA CTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAG GCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTG TGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACC TCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGG GCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCC TCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCA GCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGT GACTCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0196 a0001c0003t0001g0196	1	286	0.0035	705	c.335 others(724): Show c.335-28634_335-28633insTCAGCAGGCCCCTCCGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGG TGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAG CCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTC TCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTC ACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCA CACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGA GGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCT GGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAA GCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACT CTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGC CAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CATGCGTGTCACCAGGCCAGGTGACTCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106750	A A	AGCCCCTC others(698): Show AGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGAC TCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGG CCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGT GTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACC TCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGG CGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCC TCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCA GCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGT AACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCA GGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACAC GTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGA CCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGT GGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCC CCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTT CAGCAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0131 a0001c0006t0001g0131	1	286	0.0035	705	c.335 others(724): Show c.335-28505_335-28504insCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGC GAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCT CTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGC AAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGA CTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAG GCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCG TGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACC TCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGG GCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCC CTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTC AGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGG TAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACC AGGCCAGGTGACTCTTCAGCAGGCCCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(698): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGAAGGGCAGAGACGAGGGAAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGGGTGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGGA GAGGAGGGAAGGAAGGGGGGAGAGGAGAGAAGGAAGGGGGAGAGGAGGGA AGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGGGG GGAGAGGAGGGAAGGAAGTGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGA GGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAG GGGGAGAGGAGGAAAGGAAGGGGGAGAGGAGGAAAGGAAGGTGGGAGAGG AGGAAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGGAAAGG AAGGGGGAGAGGGAGGGAGGAAGGGGGAGGGAGGGAGGAAGGAAGGAAGC AAGCAAGCAAGCAAAGCTGCTCAGAAACTAACTTCAGGAAGAAGGGAGGG AAGCTAACTTCAGAAGCTAACTTCAGGAGGGAGGGAAGGAAGGAAGGGAA GAAGGAGGGAAGGGAGGTAGGAAGGAGGGAGGGAAGGGAGGAAGGGAGGA GGGAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00738.hp1 others(12): Show HG00140.hp2 HG00438.hp2 HG00738.hp1 HG00741.hp2 HG01257.hp1 HG01261.hp1 HG01496.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02647.hp2 HG03017.hp1 HG03017.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0005	a0001c0002t0002 a0001c0002t0022 a0001c0003t0003 others(8): Show a0001c0002t0002 a0001c0002t0022 a0001c0003t0003 a0001c0003t0004 a0001c0003t0018 a0002c0001t0002 a0002c0001t0019 a0002c0004t0002 a0002c0004t0004 a0002c0004t0010 a0002c0005t0012	a0001c0002t0002g0031 a0001c0002t0022g0055 a0001c0003t0003g0033 others(12): Show a0001c0002t0002g0031 a0001c0002t0022g0055 a0001c0003t0003g0033 a0001c0003t0004g0041 a0001c0003t0018g0046 a0002c0001t0002g0011 a0002c0001t0002g0015 a0002c0001t0002g0025 a0002c0001t0019g0023 a0002c0004t0002g0001 a0002c0004t0002g0007 a0002c0004t0004g0026 a0002c0004t0010g0027 a0002c0005t0012g0009 a0002c0005t0012g0010	15	62	0.2419	705	c.88+ others(724): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGTTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTCCCTC CCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTCTCCCCCCT TCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCACCTTCCTTTCC TCCTCTCCCCCTTCCTTTCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCC CTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCCTTCC CTCCTCTCCCCACTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCCTCTC CCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCCT TCTCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTC TCACCCCTTCCTTCCCTCCTCTCACCCCTTCCTTCCCTCCTCTCTGCCCT TCCTTCCTTCCCTCGTCTCTGCCCTTCCTTCCTTCCCTCCTCTCTGCCCT TCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTC CTCCCCTCCCTCCCCTTCCTTCCTCCCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB11FIP3_chr16_420649_528011	467520	G G	GGGGGCGT others(698): Show GGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGG AGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGG TGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGG GGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTC AGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAG GAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTG CAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAG GGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGA GGTGCT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0201 a0001c0001t0004g0201	1	295	0.0034	705	c.809 others(722): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGG AGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGG TGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGG GGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTC AGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAG GAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTG CAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAG GGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBPMS_chr8_30379541_30577256	30388495	A A	ATAACTTA others(698): Show ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	304	0.0033	705	c.66+ others(720): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(698): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	276	0.0036	705	c.132 others(722): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGPD4_chr2_107821892_107897544	107827801	C C	CGGCCCGG others(698): Show CGGCCCGGCGGCGGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCG GCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCATCAT GGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCT CGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGA TGGCTCAGGCATCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTG TTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGC GTCATGGCTCCCGACCGGCGCTGCTCCCTGGCGTGCTCTGTTGAGGCGGC GGCCTCGACCCGGCCCCGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTC CCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACC CGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCG GCGGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTG GCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCT GGACCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0039 a0025c0041t0039	a0025c0041t0039g0334 a0025c0041t0039g0334	1	374	0.0027	705	c.72+ others(718): Show c.72+731_72+732insGCGATGGCTCAGGCGTCATGGCTCCCGACGGG CGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGG CGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCATC ATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGC CTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTC GATGGCTCAGGCATCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTC TGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAG GCGTCATGGCTCCCGACCGGCGCTGCTCCCTGGCGTGCTCTGTTGAGGCG GCGGCCTCGACCCGGCCCCGCGGCGGCCTCGATGGCTCAGGCGTCATGGC TCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGA CCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGG CGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGG CGGCGGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGC CTGGACCTGGCCCGGCGGCGGCC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43280957	T T	TTGGCCAC others(698): Show TTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTG GCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCC ATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTC ACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATC CTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCT GTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTC ATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACC TCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCC CTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTC AGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTC AGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGC TATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCC TCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTC TGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGT CACCTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0187 a0001c0003t0055g0187	1	280	0.0036	705	c.484 others(724): Show c.484+10088_484+10089insGAGGTGACAGGAGGATGGCTGAGGGA GGTGACAGGATAGCTGAGGAGGAGATGACAGAAGGGTGGCCAAGGGAGGT GACAGGGTGACTGAGGAGGAGGTGACAGGAGGGTGGCCAAGGGAGGTGAC AGGAGGATGGCTGAGGGAGGTGACAGGATAGCTGAGGAGGAGATGACAGA AGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACAGGAGG GTGGCCAAGGGAGGTGACAGGAGGATGGCTGAGGGAGGTGACAGGATAGC TGAGGAGGAGATGACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGA GGAGGAGGTGACAGGAGGGTGGCCAAGGGAGGTGACAGGAGGATGGCTGA GGGAGGTGACAGGATAGCTGAGGAGGAGATGACAGAAGGGTGGCCAAGGG AGGTGACAGGGTGACTGAGGAGGAGGTGACAGGAGGGTGGCCAAGGGAGG TGACAGGAGGATGGCTGAGGGAGGTGACAGGATAGCTGAGGAGGAGATGA CAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACAG GAGGGTGGCCAAGGGAGGTGACAGGAGGATGGCTGAGGGAGGTGACAGGA TAGCTGAGGAGGAGATGACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGA CTGAGGAGGAGGTGACAGGAGGGTGGCCA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(698): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATATTCCATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	324	0.0031	705	c.115 others(722): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATGGAATATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATGGAATATATATATATATATGGAATATATATATATAT GGAATATATATATATATATGGAATATATATATATATGGAATATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(698): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	324	0.0031	705	c.115 others(722): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATGGAA TATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATGGAATATATATATATATATGGAATATATATATATAT GGAATATATATATATATATGGAATATATATATATATGGAATATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(698): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATATTCCATATATATATATATTCCATATATAT ATATATATTCCATATATATATATTCCATATATATATATATATTCCATATA TATATATTCCATATATATATATATTCCATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0108 a0002c0002t0003g0108	1	324	0.0031	705	c.115 others(722): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATAT ATGGAATATATATATATGGAATATATATATATATATGGAATATATATATA TATGGAATATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(698): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18522.hp1 HG01346.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0016 a0001c0001t0002 a0002c0002t0016	a0001c0001t0002g0115 a0002c0002t0016g0120 a0001c0001t0002g0115 a0002c0002t0016g0120	2	150	0.0133	705	c.77- others(722): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCT TCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTC CCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(698): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCT CCCCTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18522.hp1 HG01346.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0013 a0001c0001t0002 a0002c0002t0013	a0001c0001t0002g0098 a0002c0002t0013g0099 a0001c0001t0002g0098 a0002c0002t0013g0099	2	158	0.0127	705	c.22+ others(722): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCT TCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTC CCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGK3_chr8_66707781_66867022	66772135	G G	GCCTAGGC others(698): Show GCCTAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCC TGCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATT ACAGGCGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGA TGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGA TCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTGGGGCC TGGGAACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCTCATGC CTGTAATCCGAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTGAGATC AGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCTGCTAA AAATACAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGAGGTTG CAGTGAGCCAAGATTGCACCACTGCACTCAAGCCTGAGTGACAGCAAGAC TCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAAGTTTA GTTTTAGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTTTCCCT CTGTCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0002g0022 a0001c0002t0002g0024	2	142	0.0141	705	c.-12 others(726): Show c.-121-21479_-121-21478insTAGGCTGGAGTGCAGTGGCATGAT CTCGGCTCACTGCAAGCTCCGCCTGCCAGGTTCACACCATTCTCCTGCCT CAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACGTCCAGCTA ATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATG GTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAAGATATTGAAAATT TTTATTCCTGGTTGGTTGGGGCCTGGGAACTCTAGTAAATAGTTTTAAAT TGCCTGGGTGTGGTGGCTCATGCCTGTAATCCGAGCACTTTGGGAGGCTG AGGCCAGCAAATCACTTGAGATCAGGAGTTTGAGATCAGCCTGGCCAACA TGGTGAAACCTCACCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTA GTGCACTCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGG TTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCAC TCAAGCCTGAGTGACAGCAAGACTCTGTCTCAAAAAACAAACAAACAAAC AAACAAAAAAAGTTTAAAGTTTAGTTTTAGAGATAAATATTCTTTTTTGT TTGTTTTGAGACAGGCTTTCCCTCTGTCACC	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66772140	G G	GGCTGGAG others(698): Show GGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTGCCA GGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGG CGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGG TTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTGGGGCCTGGGA ACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCTCATGCCTGTA ATCCGAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTGAGATCAGGAG TTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCTGCTAAAAATA CAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGAGGTTGCAGTG AGCCAAGATTGCACCACTGCACTCAAGCCTGAGTGACAGCAAGACTCTGT CTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAAGTTTAGTTTT AGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTTTCCCTCTGTC ACCCAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG01978.hp2 others(17): Show HG00741.hp2 HG01192.hp1 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02145.hp2 HG02293.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02895.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03942.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 others(2): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012	a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 others(17): Show a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0063 a0001c0002t0002g0140 a0001c0002t0006g0012 a0001c0002t0006g0035 a0001c0002t0006g0048 a0001c0002t0006g0055 a0001c0002t0008g0123 a0001c0002t0011g0034 a0001c0002t0012g0028	20	142	0.1409	705	c.-12 others(726): Show c.-121-21461_-121-21460insCATGATCTCGGCTCACTGCAAGCT CCGCCTGCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGATTACAGGCGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCT CGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTG GGGCCTGGGAACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCT CATGCCTGTAATCCGAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTG AGATCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCT GCTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGA GGTTGCAGTGAGCCAAGATTGCACCACTGCACTCAAGCCTGAGTGACAGC AAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAA GTTTAGTTTTAGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTT TCCCTCTGTCACCCATGCTGGAGTGCAGTGG	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPATA6_chr1_48290373_48477204	48384358	G G	GGGAGAGG others(698): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGG GGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	322	0.0031	705	c.909 others(720): Show c.909+950_909+951insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCTCTCCCTTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCTCTCCCTCTCCCTCTCCCCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCTCTCCCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCC CTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46170245	C C	CCCCTATT others(698): Show CCCCTATTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTG TGAGCATCCTCGTGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCT GTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGGGG AGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCT GCTCCGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGC ATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTG GATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGAGGA GCCTCCTTCTCTGTGAACATCCTCTGTGGATGTGGAGGAGCCCCCTGCTC TGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCC TCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCA GGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCC CTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTACTCTGTGA ACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGT GGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAG GAGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01106.hp2 HG00140.hp2 HG00735.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0177 a0001c0001t0004g0020 a0001c0001t0004g0177	3	251	0.0120	705	c.194 others(722): Show c.194-1588_194-1587insAGGCTCCTCCCCATCCACAGAGGATGCT CACAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAG GAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGTAGGGGGCTCCTCC CCATCCACAGAGGATGTTCACAGAGCAGGGGGCTCCTCCCCATCCACAGA GGATGTTCACAGAGCAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACA GAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGC TCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGGGGCTCCTCCACATC CACAGAGGATGTTCACAGAGAAGGAGGCTCCTCCTGGACCACAGAGGATG CTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCA GGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCT CCCCATCCACAGAGGATGTTCACGGAGCAGGGGGCTCCTCCCCATCCACA GAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCA CAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGG GGCTCCTCCCCATCCACGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCA TCCACAGAGGATGTTCACAGAATAGGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(698): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGA AGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGATGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0290 a0001c0001t0098g0290	1	322	0.0031	705	c.597 others(722): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCATCCCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTT CCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCC TCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TERT_chr5_1248167_1300068	1273782	C C	CACGACCG others(698): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCACACA TCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATCAGACCCC ACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATCAGA CCCCACGACCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTGACC GATCACCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACA GTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGT GACCGATCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCAC CACACA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	392	0.0026	705	c.228 others(724): Show c.2287-1503_2287-1502insTGTGTGGTGACTGTGGATGGTGATCG GTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTG ATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTG TGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTC TGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGAC TGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGG CAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCTCT others(698): Show CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCA GCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0271 a0005c0005t0004g0271	1	370	0.0027	705	c.-13 others(716): Show c.-1313_-1312insAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACG GGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAG GCTGGGTGGGGCACAGAGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1257		chr19	TogoVar
TH_chr11_2158929_2176815	2161763	C C	CACCCCTG others(698): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT ATCCCCACACCCCCTGTCCCCACACCCCCTGTCCCCGGGACCCCTGTCCC CACACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACC CCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTC CCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACA CCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCAGGACCCCTGTCCCCAGACCCCTATCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTC CCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	388	0.0026	705	c.24 others(716): Show c.2469_*2470insCCTGGGGACAGGGGTCCGGGGGACAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGATAGGG GTCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGG GTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCGGGGGACAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGGTGTGGGGACAGGGGTCCTGGGGACAG GGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAG GGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGGTG TGGGGACAGGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTCCCGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC CCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2165		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028623	C C	CCCCCACA others(698): Show CCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACATACC CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGACCCC CATCACACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCCATCA CACCATCCTGAAGACCCACACATACCCTCGTAAAGACCCCCATCACACCG TCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCC ACACATACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCCACA CACACTCGTAGAGACCCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCCGTCATACCATCCTGAAGACCCCACACACCCTCGTAAA GACCCCCATCATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCC CATCACACCGTCCTAAAGACCCCCACACACCCTCGTGAAGACCCCATCAC ACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCC TGAAGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	224	0.0045	705	c.225 others(724): Show c.2251+1806_2251+1807insTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTCACGAGG GTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGT GGGGGTCTTTAGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGT CTTCAGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAG GACGGTGTGATGGGGGTCTCTACGAGTGTGTGTGGGGGTCTTTAGGATGG TGTGATGGGGGTCTTTACGAGGGTATGTGTGGGTCTTTAGGATGGTGTGA TGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGATGGGGT CTTTACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGATGGGGGTCTTTA CGAGGGTATGTGTGGGTCTTCAGGATGGTGTGATGGGGGTCTTTACGAGG GTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTG TGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGG ACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGGTCTCTACGAGTGTGTGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870316	C C	CCCCACAC others(698): Show CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCTACACACACCACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCTACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	338	0.0030	705	c.35 others(724): Show c.35+21586_*35+21587insACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCTACACACACCACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACC CTACACACACCACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(698): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGG GAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGA GGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAGGGGAGGGAGAGGAG GGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGG GGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGGGAGGGG AGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGG GAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGA GGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGG GAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAG GGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAAG AAAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG03041.hp2 others(3): Show HG01243.hp1 HG02559.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp2 NA18906.hp1	a0002 a0005 a0007 others(1): Show a0002 a0005 a0007 a0009	a0002c0003 a0005c0027 a0007c0016 others(2): Show a0002c0003 a0005c0027 a0007c0016 a0007c0035 a0009c0041	a0002c0003t0003 a0005c0027t0003 a0007c0016t0002 others(2): Show a0002c0003t0003 a0005c0027t0003 a0007c0016t0002 a0007c0035t0004 a0009c0041t0003	a0002c0003t0003g0120 a0005c0027t0003g0277 a0007c0016t0002g0012 others(3): Show a0002c0003t0003g0120 a0005c0027t0003g0277 a0007c0016t0002g0012 a0007c0016t0002g0266 a0007c0035t0004g0272 a0009c0041t0003g0258	6	290	0.0207	705	c.205 others(724): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCC CTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCT CCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCTCTCCCTCCCCTCCCT CCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTC CCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCC TCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCC CCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCC CTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCCT CCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCT CCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(698): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATATAT TTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTATTA CATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATTTT TTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTATA CAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAAGA TACAAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG02735.hp1 others(2): Show HG00558.hp2 HG00621.hp2 HG02735.hp1 HG02970.hp2 HG03225.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0001c0001t0001 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0203 a0001c0001t0001g0368 a0002c0002t0001g0347 others(2): Show a0001c0001t0001g0203 a0001c0001t0001g0368 a0002c0002t0001g0347 a0002c0002t0001g0350 a0003c0003t0003g0043	5	432	0.0116	705	c.209 others(722): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAAT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAGCATATCTGTTGATCC AAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTACTA ATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTCTT CCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTCTT ATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGAGA TTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(698): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAGTCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATATAT TTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTATTA CATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATTTT TTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTATA CAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAAGA TACAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00673.hp2 others(26): Show HG00438.hp1 HG00544.hp1 HG00673.hp2 HG00735.hp2 HG01257.hp2 HG01358.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp1 HG02622.hp1 NA18942.hp2 NA18953.hp2 NA18961.hp2 NA18973.hp2 NA18977.hp1 NA18982.hp2 NA18986.hp2 NA18991.hp1 NA18995.hp1 NA19005.hp1 NA19009.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0004 a0002c0002t0007 a0002c0002t0014 others(1): Show a0002c0002t0004 a0002c0002t0007 a0002c0002t0014 a0002c0006t0004	a0002c0002t0004g0081 a0002c0002t0004g0082 a0002c0002t0004g0084 others(26): Show a0002c0002t0004g0081 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0086 a0002c0002t0004g0089 a0002c0002t0004g0090 a0002c0002t0004g0091 a0002c0002t0004g0092 a0002c0002t0004g0093 a0002c0002t0004g0094 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0098 a0002c0002t0004g0099 a0002c0002t0004g0100 a0002c0002t0004g0101 a0002c0002t0004g0102 a0002c0002t0004g0104 a0002c0002t0004g0105 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0004g0108 a0002c0002t0004g0109 a0002c0002t0004g0110 a0002c0002t0007g0085 a0002c0002t0007g0088 a0002c0002t0007g0103 a0002c0002t0014g0087 a0002c0006t0004g0097	29	432	0.0671	705	c.209 others(722): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAGT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAGCATATCTGTTGATCC AAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTACTA ATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTCTT CCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTCTT ATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGAGA TTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(698): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCGTTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAAA ACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAATC GTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAAA AAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATATAT TTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTATTA CATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATTTT TTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTATA CAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAAGA TACAAC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0184 a0002c0002t0002g0184	1	432	0.0023	705	c.209 others(722): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCGTTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGCATAGTGGTGGGTACCTGTAATC CCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTTG AGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACAA AAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAGCATATCTGTTGATCC AAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTACTA ATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTCTT CCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTCTT ATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGAGA TTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(699): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGT GGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGC TAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATTA GTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGG GATGGCTAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATG GATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATG GGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTG GGATGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 NA18944.hp1 others(4): Show HG00558.hp2 HG00673.hp1 NA18944.hp1 NA18968.hp1 NA18993.hp1 NA19064.hp2 NA19074.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0001c0006 a0016c0036 a0001c0001 a0001c0006 a0016c0036	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0016c0036t0001	a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 others(4): Show a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0004g0071 a0001c0001t0004g0181 a0001c0006t0001g0291 a0016c0036t0001g0344	7	357	0.0196	706	c.278 others(725): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCACTCA TTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCA TCCCACCCACCCATTTATCCATCCCACCCACTAATTTAGCCATCCCACCC ACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTT AGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCC CACCCACTCATTTATCCATCCATCCCACCCACTCATTTATCCATCCCACC CACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATT TATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATC CATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCAC CCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCAT TTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTAT CTATCCCACCCACTCATTTATCCATCCCACCTCATTTATGCATCCCACCC ACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ADAMTS3_chr4_72275969_72574221	72456246	A A	ATATAGTA others(699): Show ATATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATG TACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATAT ATTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACT GTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATA TATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGT ATAGTATATATACTGTATGTACTATATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGT ACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATT TTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTA TATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTAT GTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATA TTTTATG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0015 a0002c0002t0005g0015	1	182	0.0055	706	c.505 others(725): Show c.505-41276_505-41275insCATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACA GTATATATACTATACATAAAATATATATAGTACATACAGTATATATACTA TACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATAT ATATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATA CAGTATATATACTATACATAAAATATATATAGTACATACAGTATATATAC TATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAAT ATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACTATACATAAAATATATATATAGTATATACAA TGTACATACTATACATAAAATATATATAGTACATACTATACATAAAATAT ATATATAGTATATACAATGTACATACTATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(699): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT AGTATATATATTCTGTATATAGAATATATATACTATATATATTCTATATA CAGAATATATATACTATATATATATTCTATATATAGAATATATATATAGT ATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAT ACAGAATATATATAGTATATATATATTCTATATACAGAATATATATAGTA TATATATTCTGTATACAGAATATATAGTATATATATTCTATATACAGAAT ATATATAGTATATATATTCTGTATACAGAATATATATACTATATATATTC TATATACAGAATATATATACTATATATATTCTATATATAGAATATATATA TAGTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTAT ATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTATA TTAATTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	236	0.0042	706	c.409 others(725): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATATACTATATATATTCTGTATATATACAGAATATATAT ACTATATATATTCTATATACAGAATATATATACTATATATATATTCTATA TATAGAATATATATATAGTATATATATTCTGTATATAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTGTATATAG AATATATATACTATATATTCTGTATACAGAATATATATACTATATATATT CTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATAT AGTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATA TAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATAT ATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(699): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTGTATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT ACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATA TATACAGAATATATATACTATATATATTCTATATATAGAATATATATATA GTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATAT ATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGTA TATATATTCTGTATACAGAATATATAGTATATATATTCTATATACAGAAT ATATATAGTATATATATTCTGTATACAGAATATATATACTATATATATTC TATATACAGAATATATATACTATATATATTCTATATATAGAATATATATA TAGTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTAT ATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTATA TTAATTC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	236	0.0042	706	c.409 others(725): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATATACAGAATATATATAC TATATATATTCTATATACAGAATATATATACTATATATATATTCTATATA TAGAATATATATAGTATATATATTCTGTATATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTGTATATAG AATATATATACTATATATTCTGTATACAGAATATATATACTATATATATT CTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATATAT AGTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATA TAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATAT ATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCCGTG others(699): Show CCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACTC ATTTACAGCGAGCACTTCTCACCCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTG ACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGG TGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACC CCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACAC TGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCC GTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCA CTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	246	0.0041	706	c.-16 others(717): Show c.-1625_-1624insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGT GGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAG TGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGG GGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687705	A A	AGCGGTGA others(699): Show AGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTC CCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGC ACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTG ACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGG TGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACT GGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTC CCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCA CACACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0004 a0001c0003t0009g0004	1	246	0.0041	706	c.-21 others(717): Show c.-2102_-2101insCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACC GCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCA CGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTG CTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTG TGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCT CACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGG TGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACC GCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCA CGGGGTGGGAAGTGCTCACCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1860		chr8	TogoVar
ATP10A_chr15_25673712_25868327	25757900	T T	TCACCTGC others(699): Show TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT CATTCCGACCACCTGCTCCACCCTAACTCATTCGATCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCGATC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTC CACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCT GCTCCACCCTTACTCATTCTGATCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0104 a0003c0003t0001g0104	1	300	0.0033	706	c.655 others(725): Show c.655-21760_655-21759insGTCGGAATGAGTTAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGATCAGAATGAGTAAGGGTGGAGCAGGTGGTCGGAATGAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGA GTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCG GAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGA ATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCG GAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
C11orf24_chr11_68256338_68276973	68264684	C C	CTATCCAT others(699): Show CTATCCATCCATCCACCCACCCACCCCATCCATCCACCCACTCATCCATC CATCCATCCATCCATCCTTCTATCCATCTACTCATCTGTCCATCCATCCA TCCATCCACCCACCCATCCACCCACCCACTCTTCCATCCATCCATCCACC CACTATTCTATACATCTACTCATCTGTCCATCCATAGGTTCACTCATCCA TCCATCCATCCATCTACCCACCCACCCATCCATCTATCCACTATTCTATT CATCTATTCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCACTCATCCACTTTTCCATCCATCTACTCATC TGTCCATCCACCCACCCATGCATCCATCCATCCACCCACCCTGTCCATCC ACCCATCCACCCACCCACCCGTCCATCCACCCACCCATCCGTCCATCCAC CCATCCATCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCC ACCCATCCACCCACCCACTCACCCATCCATCCATCCATCCACCCATCCAT CCATCCATCCATCCACCCATCCATCCATCCACCCACCCATCTATCCATCC ATCCATCCACCCACCCACCCACCCATACACTCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCATCCATCCATCCATCCATCCACCCACCC ACACACT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	400	0.0025	706	c.-99 others(721): Show c.-99-819_-99-818insAGTGTGTGGGTGGGTGGATGGATGGATGGA TGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGTG TATGGGTGGGTGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGATGGATG GATGGGTGAGTGGGTGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGA TGGGTGGGTGGGTGGGTGGATGGATGGGTGGATGGACGGATGGGTGGGTG GATGGACGGGTGGGTGGGTGGATGGGTGGATGGACAGGGTGGGTGGATGG ATGGATGCATGGGTGGGTGGATGGACAGATGAGTAGATGGATGGAAAAGT GGATGAGTGGATGGATGGATGAATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGACAGATGAATAGATGAATAGAATAGTGGATAGATGGAT GGGTGGGTGGGTAGATGGATGGATGGATGGATGAGTGAACCTATGGATGG ACAGATGAGTAGATGTATAGAATAGTGGGTGGATGGATGGATGGAAGAGT GGGTGGGTGGATGGGTGGGTGGATGGATGGATGGATGGACAGATGAGTAG ATGGATAGAAGGATGGATGGATGGATGGATGGATGAGTGGGTGGATGGAT GGGGTGGGTGGGTGGATGGATGGATA	C11orf24	ENSG00000171067.11	transcript	ENST00000304271.11	protein_coding	2/3			chr11	TogoVar
CCDC141_chr2_178824757_179055137	178903090	T T	TAAAAAGT others(699): Show TAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAA CACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAG TCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCC AGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCT ATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCA AAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAA AATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATG AGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTC AGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCAT AGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCA CACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGG GAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCA TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAAACAAAACAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0008 a0001c0001t0049g0008	1	274	0.0037	706	c.126 others(725): Show c.1265+2238_1265+2239insTTTTTTTTTTTTTTTTTTTTTTTTGT TTTGTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGT GCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCA CTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCC CTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTG TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC GCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTC ATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTA GTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACT AGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCC TCTCCAGCACCTGTTGTTTCCTGACTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	8/23			chr2	TogoVar
COL21A1_chr6_56051590_56252580	56097756	T T	TATATATA others(699): Show TATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TAAATATATAAATATATATATAAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATATATAAATATATA TAAAAATATATATAAATATAAATATATATATAAATATATACAAATATATA TATAAATATATATAAATATAAATATATACAAATATATATATAAATATATA TAAATATAAATATATACAAATATATATAAATATATATAAATATAAATATA TACAAATATATATAAATATATAAATATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATGTA AATATATATAAATATATGTAAATATATATGTAAATATATATAAATATATG TAAATATATATGTAAATATATATAAATATATATGTAAATATATATAAATA TATATGTAAATATATATAAATATATATATAAATATATATATAAATATATA TAAATATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0251 a0003c0005t0007g0251	1	264	0.0038	706	c.181 others(725): Show c.1812+3715_1812+3716insTTATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATATTTATATATATTTACATATATATTTATATATATTTACAT ATATATTTATATATATTTACATATATATTTACATATATTTATATATATTT ACATATATATTTACATATATTTATATATATTTACATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATTTATATATATTTGTATATATTTATATTTATATAT ATTTATATATATTTGTATATATTTATATTTATATATATTTATATATATAT TTGTATATATTTATATTTATATATATTTATATATATATTTGTATATATTT ATATATATATTTATATTTATATATATTTTTATATATATTTATATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATTTATATATATTTATATATATTT ATATATATTTATATATATATTTATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGGA others(699): Show GGAGGGGAGAAGAAGGGAAGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGG GGAGGGGAGAAGAAGGGAAGGGAGGGGAAGGGAAGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGG GGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAG GGAGAAGAGGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAGAAGAGG GGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAGAAGAGGGGAGGGGAGA AGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAG GAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAGAAGAAGGGAGAAGAAGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGC GAGAGGGGAGGGGGAGGGGAGGCGAGGGGAGGGGAGGGGAGAGGAAGGGA GGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGG GGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGG GGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGG AGAGGGGCGGGGCGGAGAGGGGCGGGGCGGGGCGGGGCGGGGCGGGGAGG GGCAGAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	88	0.0114	706	c.158 others(723): Show c.158-5835_158-5834insGTCTGCCCCTCCCCGCCCCGCCCCGCCC CGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCC CGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCC CTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTC CTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCTCTCCCCTCCCCT CCCCTCGCCTCCCCTCCCCCTCCCCTCTCGCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCTTCTTCTCC CTTCTTCTCCCTTCTTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCTTCTCCC TTCTTCTCCCTTCTTCTCCCCTCCCCTCCCCTCTTCTCCCTTCTTCTCCC TTCTTCTCCCCTCCCCTCCCCTCTTCTCCCTTCTTCTCCCTTCTTCTCCC CTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCC TTCCCCTCCCTTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCCC CTCCCCTCCCTTCCCTTCTTCTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438425	A A	AAGGAGGA others(699): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAG GAGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGG AGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGGGA GGAGGAGGGAGGAGGAGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGAGGA GGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAAGAGGGGGGAGGAGGAG GAAGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGAG GGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAG GGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0115 a0115	a0115c0222 a0115c0222	a0115c0222t0001 a0115c0222t0001	a0115c0222t0001g0128 a0115c0222t0001g0128	1	252	0.0040	706	c.118 others(725): Show c.11806-558_11806-557insCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCTCCCTCCTCCTTCCTC CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC CTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCCCTCTTC CTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCC CCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCCTCCTCCCCCTCC TCCCCCTCCCCCTCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCC TCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTC CTCCTCCTCCTCCCTCCTCCCTCCTCCCCTCCTCCTCCTCCCTCCTCCCT CCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438425	A A	AAGGAGGA others(699): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGG AGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGA GGAGGAGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGAGGAGGGG GAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGAGGAGGAGGAAGAGGGGGGAGGAGGAGGAAGAGGGGG GAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGAGGGAGGAGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0056 a0056	a0056c0112 a0056c0112	a0056c0112t0001 a0056c0112t0001	a0056c0112t0001g0072 a0056c0112t0001g0072	1	252	0.0040	706	c.118 others(725): Show c.11806-558_11806-557insCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCTCCCTC CTCCTTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCTTCCTCCTCCTC CCCCCTCTTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCCTC CTCCCCCTCCTCCCCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCTCCCCC TCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCC TCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTC CCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAJC4_chr11_64225548_64239281	64237115	G G	GGGAGAGG others(699): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGATGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGGGGAGA GGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGGAGGAGGGAGAGGGAGGGAGAGGAGAGGGAGAGGAGAG GGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGAGAGGAGAGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG GAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGA GACAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	338	0.0030	706	c.29 others(717): Show c.2931_*2932insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGATGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGG GAGAGGGAGGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGGAGGAGGGAGAGGGAGGGAGAGG AGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGGGGAGAGGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGAGAGGAGAGGAGAGGGAGAGGGAGAGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGAGAGACAGAC	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2835		chr11	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATA others(699): Show ATATAATATTAATTATATATAATATATAATATATAATTATATATAATTAT ATAATATATAATTATATATAATTTATATATTATATATAATTATAATATTA TATATAATATATAATATATAATTATATATTATATATAATATATAATTATA TAATATATAATATATTATAATTATATATATTTATTTAAATATATAATATA TTATATATAATTATATAATATATTATATATAATATATAATTATATGTTAT ATATTATATATATTATATATTATATATATATTATATATATAATATATATT ATATATTAAAATTATATATAAATATATATTATATATATAATTTATATATA TAAAATATATTATATATTATATAAATATATATATTTTATATATATAAAAT ATATATTTTATAATATATATATATAGAAATATATATTATATAATATATAA TTATATATAATTATATATTATATAATATATATTTCTATATTATATATTTA TAATGTATAATATATAAATAATCTTATAAATATATATTATAATACTATAT AATGCATTATAAATATATTATATTTATATATTATAAATATATTACATATT TATATATTATATATATAATATATATATTATATATTATAAATATATTTTAT AAAATATAATATATATATTATATATTATATTTTATAAAATATAATAATAA TATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0179 a0001c0002t0003g0179	1	220	0.0046	706	c.551 others(725): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATATATAATATATATATTATATTTTATAAAATATATTTATAATA TATAATATATATATTATATATATAATATATAAATATGTAATATATTTATA ATATATAAATATAATATATTTATAATGCATTATATAGTATTATAATATAT ATTTATAAGATTATTTATATATTATACATTATAAATATATAATATAGAAA TATATATTATATAATATATAATTATATATAATTATATATTATATAATATA TATTTCTATATATATATATTATAAAATATATATTTTATATATATAAAATA TATATATTTATATAATATATAATATATTTTATATATATAAATTATATATA TAATATATATTTATATATAATTTTAATATATAATATATATTATATATATA ATATATATATAATATATAATATATATAATATATAACATATAATTATATAT TATATATAATATATTATATAATTATATATAATATATTATATATTTAAATA AATATATATAATTATAATATATTATATATTATATAATTATATATTATATA TAATATATAATTATATATTATATATTATATATAATATTATAATTATATAT AATATATAAATTATATATAATTATATATTATATAATTATATATAATTATA TATTATATATTATATATAATTAATATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar

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Search Results (Total: 8931 hits)