Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SKAP2_chr7_26662068_26869590	26755286	T T	TAAGACTT others(2017): Show TAAGACTTAGTCCATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAAT TGTCCCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTC TCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGG ATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACA GACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCA AAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCT CTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAA ACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTG AAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCAT CAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGT TCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAA AAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAA GGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAG ATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAAC TATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTC CCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGC TGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGG ATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAA CCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCA AAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTA ATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAA CAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACA AAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAA AAAACAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTT CTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCAT CATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAAGAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01169.hp1 others(1): Show HG00741.hp2 HG01167.hp1 HG01169.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0005 a0001c0001t0007g0007 a0001c0001t0007g0001 a0001c0001t0007g0005 a0001c0001t0007g0007	4	276	0.0145	2024	c.308 others(2043): Show c.308-15323_308-15322insTTTTTTTTTTTTTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCACCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATGGACTAAGTCTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26755286	T T	TAAGACTT others(2017): Show TAAGACTTAGTCCATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAAT TGTCCCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTC TCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGG ATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACA GACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCA AAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCT CTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAA ACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTG AAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCAT CAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGT TCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAA AAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAA GGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAG ATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAAC TATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTC CCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGC TGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGG ATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAA CCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCA AAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTA ATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAA CAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCGTCTGACA AAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAA AAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTT CTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCAT CATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAAACATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAAAGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01361.hp2 HG02055.hp2 HG01255.hp1 HG01361.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0231 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0231	3	275	0.0109	2024	c.308 others(2043): Show c.308-15323_308-15322insTTTTTTTTTTTTCTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGTTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGACGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATGGACTAAGTCTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26755286	T T	TAAGACTT others(2017): Show TAAGACTTAGTCCATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAAT TGTCCCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTC TCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGG ATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACA GACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCA AAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCT CTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAA ACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTG AAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCAT CAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGT TCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAA AAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAA GGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAG ATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAAC TATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTC CCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGC TGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGG ATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAA CCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCA AAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTA ATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAA CAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCGTCTGACA AAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAA AAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTT CTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCAT CATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAAAGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 NA20129.hp1 HG01243.hp2 HG02280.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0017g0227 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0017g0227	3	275	0.0109	2024	c.308 others(2043): Show c.308-15323_308-15322insTTTTTTTTTTTTCTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGACGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATGGACTAAGTCTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26755286	T T	TAAGACTT others(2017): Show TAAGACTTAGTCCATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAAT TGTCCCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTC TCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGG ATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACA GACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCA AAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCT CTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAA ACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTG AAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCAT CAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGT TCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAA AAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAA GGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAG ATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAAC TATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTC CCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGC TGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGG ATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAA CCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCA AAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTA ATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAA CAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCGTCTGACA AAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAA AAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTT CTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCAT CATCACTGGCCATCAGAGAAATGCAAATCAAAACCATTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAAAGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03540.hp1 HG06807.hp2 HG02109.hp2 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0226 a0001c0001t0006g0228 a0001c0001t0006g0234 a0001c0001t0006g0226 a0001c0001t0006g0228 a0001c0001t0006g0234	3	275	0.0109	2024	c.308 others(2043): Show c.308-15323_308-15322insTTTTTTTTTTTTCTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAATGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGACGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATGGACTAAGTCTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26755286	T T	TAAGACTT others(2017): Show TAAGACTTAGTCCATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAAT TGTCCCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTC TCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGG ATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACA GACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCA AAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCT CTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAA ACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTG AAAATGGCCATACTGCCCAAGGTAATTTGCAGATTCAATGCCATCCCCAT CAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGT TCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAA AAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAA GGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAG ATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAAC TATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTC CCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGC TGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGG ATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAA CCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCA AAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTA ATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAA CAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCGTCTGACA AAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAA AAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTT CTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCAT CATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAAAGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG03139.hp1 HG02622.hp1 HG02818.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0233 a0001c0001t0010g0186 a0001c0001t0010g0232 a0001c0001t0006g0233 a0001c0001t0010g0186 a0001c0001t0010g0232	3	275	0.0109	2024	c.308 others(2043): Show c.308-15323_308-15322insTTTTTTTTTTTTCTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGACGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGCAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATGGACTAAGTCTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SNTG2_chr2_945849_1372613	1223101	G G	GACCGCTG others(2017): Show GACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGTG GTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GACCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTAGTGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGACCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACCG GCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTC TCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTG GTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAAGTGCTG GATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGTGTC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTG GTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GATCGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGAT GGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCATC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCG GCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GATCGCTGTAGAGGAAAGTGGCGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGAT GGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGGATGGAGGGTGTCT CCCTGTCCTGCTGTGGAGGTGCTGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	164	0.0061	2024	c.719 others(2043): Show c.719+13872_719+13873insCCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAACCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAACTAGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAC CGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAAGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGTG ATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAACTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCATCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGG CGGTGCAGGATGGAGGGTGTCTCCCTGTCCTGCTGTGGAGGTGCTGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1223101	G G	GACCGCTG others(2017): Show GACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGTG GTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GACCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGACCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACCG GCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGCAGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTC TCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTG GTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAAGTGCTG GATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGTGTC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTG GTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GATCGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGAT GGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCG GCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GATCGCTGTAGAGGAAAGTGGCGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGAT GGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGGATGGAGGGTGTCT CCCTGTCCTGCTGTGGAGGTGCTGA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	164	0.0061	2024	c.719 others(2043): Show c.719+13872_719+13873insCCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAACCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAACTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAC CGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGCAGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAAGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGTG ATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAACTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGG CGGTGCAGGATGGAGGGTGTCTCCCTGTCCTGCTGTGGAGGTGCTGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1223101	G G	GATCGCTG others(2017): Show GATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTG GTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAACCGGCGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAACTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAACCG GCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGTTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTG GTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTG GATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAAGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGTGTC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTG GTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GATCGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGAT GGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCATC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCG GCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GATCGCTGTAGAGGAAAGTGGCGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGAT GGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGGATGGAGGGTGTCT CCCTGTCCTGCTGTGGAGGTGCTGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	164	0.0061	2024	c.719 others(2043): Show c.719+13888_719+13889insTGGTGCAGTGATGGAGGGTGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAG GGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAACCGGCGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAACTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAG GGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGG AAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGTTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAG GGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAG GTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAAGTGCTGGATCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAG GGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGC AGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAG GGCATCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGATCGCTGTAGAGGAAAGTGGCGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGGATGGAGG GTGTCTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGTAGAGGAAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1223139	T T	TCTCCCTG others(2017): Show TCTCCCTGTCCTGCCTGCTGCTGGAAGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAC CGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTACCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAAGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG CGGCGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGGA TGGAGGGTGTCTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGGGCGC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0011 a0003c0008t0001g0011	1	112	0.0089	2024	c.719 others(2043): Show c.719+13933_719+13934insAGTGCTGGATCGCTGTAGAGGAAAGT GGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCT GGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCC TGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGA TGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGT AGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGC TGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGT CTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGT GGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCT GGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCC TGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGA TGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGT AGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGC TGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGT CTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACC GGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCT GGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCC TGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGA TGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGT AGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTACCTGCTGC TGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGT CTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGT GGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAAGTGCT GGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCC TGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGA TGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGT AGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGC TGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGT CTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGC GGCGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCT GGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCC TGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAGTGA TGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGT AGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGC TGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGT CTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGT GGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCT GGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCC TGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGGAT GGAGGGTGTCTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGTAGAGGA AAGTGGTGCAGTGATGGAGGGCGCCTCCCTGTCCTGCCTGCTGCTGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(2017): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGGG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAC GGAGAAAGAGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAGGGAGGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAGGAGG GAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGAAGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGAAGGAGGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGA GGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAAGGAGGGAGGAGAGGGAGGAAGAAAGAGAGGGAGGGAGGGAGGA GGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGG GAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAAGGAGGGAGGAAGGAGGGAGGAGAGGGAGGAAGAA AGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGAAGAAAGAGAGGGAGGG AGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGA GGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGG AGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGG GAGGAAGGGAGGGAGAGGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	62	0.0161	2024	c.53 others(2035): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTTCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTTCCTC CCTCTCCTCCCTCCTTCCTCCCTCCTTCCCTCTCTTTCTCCCTCCCTCTC CTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTC CCTCCCTCTCTTTCTTCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CTCCTTCCTCCCTCCCTCTCTTTCTCCGTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTC CCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTC CTCCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTTCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCTCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTC CCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTC CTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCTCTTTCTCCGTCCCTCTCCTCCCTCCCTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTC CCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTCCGTCCCTCTC CTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCT CCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCC TCCCTCCCTCTCTCTTTCACCCTCCCTTCCTTTCTCCTTTACTCCCTTCC TCCATCCCCTCCCCTCCCCTCCCTTCCCTCTCTCTCTTCCTTCCTTCCTT CCTCTCCCTCCCTTCTTTCCTCCCTCCCTCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
CLPTM1L_chr5_1312752_1350099	1333251	C C	CGGATGAG others(2018): Show CGGATGAGGATAAGGGGAGACTACTGTATACACACGGGATGAGGATGAGG GACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACAC ACCAGATGAGGATAAGGGGGGACTACTGTATACACACACGGGATGAGGAT AAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGGGGGACTATTG TATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCAGATG AGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGAGAC TACTGTATACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGA TGATGATAAGGGGGACTACTGTATACACATTGGATGAGGATAAGGGGGGA CTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACAC CAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGG GGGGACTACTGTAGACACACGGGATGAGGATAAGGGGGGACTACTGTATA CACACCGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGA TAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACT GTATACACACCAGATGAGGATAAGGGGGGACTACTGTACACACACGGGAT GAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGAC TACTGTATACACACTGGATGAGGATAAGGGGGGACTACTGTATACACACC AGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGATAAGGG GGACTACTGTATACACACCGGATGAGGATAAGGGGCGACTACTGTATACA CACCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATA AGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGT ATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGA GGATAAGGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGAC TACTGTATACACACCGGATGAGGATAAGGGGAGACTACTGTATACACACG GGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGGGGGG ACTACTGTATACACACCAGATGAGGATAAGGGGGGGACTACTGTAGATAC ACGGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAA GGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTA TACACACACGGGATGAGGATAAGGGGGGACTACTGTATACACACGGGATG AGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTAC TGTAGACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGA TGAAGATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAGGGGGG ACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACA CCAGATGAGGATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAG GGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAT ACACACCGGATGAGGATAAGGGGGGACTACTGTAAACACACGGGATGAGG ATGAGGGACTATTGTATACACACTAGATGAGGATAAGGGGGGACTACTGT AGATACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGA GGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACT ACTGTATACACATTGGATGAGGATAAGGGGGGACTATTGTATACACACCA GATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGG GGGACTACTGTATACACACCGGATGA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	302	0.0033	2025	c.891 others(2042): Show c.891+1037_891+1038insTCATCCGGTGTGTATACAGTAGTCCCCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTG GTGTGTATACAATAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAG TCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTC ATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTATCTAC AGTAGTCCCCCCTTATCCTCATCTAGTGTGTATACAATAGTCCCTCATCC TCATCCCGTGTGTTTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCT TATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCCTCATCTGGTG TGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCTTCATC TGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGT AGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCA TCCCGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTATA CAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTT ATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGT ATCTACAGTAGTCCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCG TGTGTATACAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAGTAGT CCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCCTTATCCTC ATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATAC AGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTA TCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCGCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCC CTTATCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGG TGTGTATACAGTAGTCCCCCCTTATCCTCATCCAGTGTGTATACAGTAGT CCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCAT CCCGTGTGTGTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAG TAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATC CTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTA TACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTCTACAGTAGTCCCCCC TTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGT GTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTC CCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCTTATCATCATC TGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGT CTCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCA TCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACA ATAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTAT CCTCATCCCGTGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGT GTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCC TCATCCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATCCTCATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CRIP2_chr14_105469821_105485162	105477719	G G	GGGGAAGC others(2018): Show GGGGAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGTGTGGGGGAAGCGGGT GTGTGTGGGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGG AAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGT GGGGAAGCGGGTGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGAAGCGGGT GTGTGTGTGGGGAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGTGTGTGGG GAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGT GTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGT GTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAA GCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGT GTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGC GGGTGTGTGTGGGGAAGCGGGTGTGTGGGGGGAAGCGGGTGTGTGTGAGG AAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGT GTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGC GGGTGTGTGTGTGGGGAAGCGGGTGTGTGGGGGAAGCGGGTGTGTGTGTG AGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGGAAGCGGGTGT GTGTGAGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGG GTGTGTGTGTGGGGAAGCGGGTGTGTGGGGGAAGCGGGTGTGTGTGTGAG GAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGT GTGGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGG TGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGTG GGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTG TGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGGGGGGAAG CGGGTGTGTGTGAGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTG TGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGG TGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGGGGGAA GCGGGTGTGTGTGTGAGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGT GGGGGAAGCGGGTGTGTGTGAGGAAGCGGGTGTGTGTGGGGAAGCGGGTG TGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAG CGGGTGTGTGGGGGAAGCGGGTGTGTGTGTGAGGAAGCGGGTGTGTGTGG GGAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGTGTGGGGGAAGCGGGTGT GTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGG GTGTGTGTGTGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGAGG AAGCGGGTGTGTGTGGGGAGGCGGGTGTGTGTGGGGGGAAGCGGGTGTGT GGGGGGGAAGCGGGTGTGTGTGTGTTGGGAAGCGGGTGTGTGTGGGGAAG CGGGTGTGTGTGAGGAAGCGGGTGTGTGTTGGGAAGCGGGTGTGTGTGGG GGGAAGCGGGTGTGTGGGGGGGAAGCGGGTGTGTGTGTGTTGGGAAGCGG GTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGGG AAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGT GGGGGGAAGCGGGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGAAGCGGGT GTGTGGGGGAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGTGTGGGGAAGC GGGTGTGTGGGGGGAGGCGGGTGTGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	2	0.5000	2025	c.44- others(2038): Show c.44-544_44-543insAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGTG TGGGGGAAGCGGGTGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGAAGCGG GTGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGG AAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGGGAAGCGGGTGTGT GTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGGAAGCG GGTGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGG GGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGT GTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGT GTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGTGG GGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGT GTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGGGGGGAAGC GGGTGTGTGTGAGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGT GGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGT GTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGGGGGAAG CGGGTGTGTGTGTGAGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTG GGGGAAGCGGGTGTGTGTGAGGAAGCGGGTGTGTGTGGGGAAGCGGGTGT GTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGGGGGAAGCG GGTGTGTGTGTGAGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGG GGAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTG TGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAG CGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTG TGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGG TGTGTGGGGGGAAGCGGGTGTGTGTGAGGAAGCGGGTGTGTGTGTGGGGA AGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTG TGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGTGGGGAAGCG GGTGTGTGGGGGAAGCGGGTGTGTGTGTGAGGAAGCGGGTGTGTGTGGGG AAGCGGGTGTGTGTGGGGGAAGCGGGTGTGTGTGAGGAAGCGGGTGTGTG TGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTG TGTGTGTGGGGAAGCGGGTGTGTGGGGGAAGCGGGTGTGTGTGTGAGGAA GCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGTGTG GGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGT GTGTGGGGAAGCGGGTGTGTGTGTGGAAGCGGGTGTGTGTGTGGGGAAGC GGGTGTGTGTGAGGAAGCGGGTGTGTGTGGGGAGGCGGGTGTGTGTGGGG GGAAGCGGGTGTGTGGGGGGGAAGCGGGTGTGTGTGTGTTGGGAAGCGGG TGTGTGTGGGGAAGCGGGTGTGTGTGAGGAAGCGGGTGTGTGTTGGGAAG CGGGTGTGTGTGGGGGGAAGCGGGTGTGTGGGGGGGAAGCGGGTGTGTGT GTGTTGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGG GTGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGG AAGCGGGTGTGTGTGGGGGGAAGCGGGTGTGTGGGGGGAAGCGGGTGTGT GTGGGGAAGCGGGTGTGTGGGGGAAGCGGGTGTGTGTGGGGGAAGCGGGT GTGTGTGGGGAAGCGGGTGTGTGGGGGGAGGCGGGTGTGTGGG	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2018): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAA CCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCA CTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTA GTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGAC CTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCG TGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTGAGATC CAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCT CACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTC AGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTG TAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCG TCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGA TTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAG ACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAG TGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCC ACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATC AATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACA AAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTA GCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCAC TGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTG AGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGT ATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGAC AGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAA TAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTT CAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGC CTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGC CAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGA GATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATA AAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTT TGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGT GAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGA GTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCAC TGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAG AGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTAT TTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTC CTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	22	0.0455	2025	c.-90 others(2040): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTCTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCC AGGCTGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAACC TCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACT GGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGT AGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCT TAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTG AGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCA GTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCA CTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAG CCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTA GCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTC ACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATT ACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGAC AGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTG ATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCAC TGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAA TACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAA AGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGC CTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTG CAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAG TAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTAT TTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAG GCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATA GGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCA GGAGTCCGAGTCGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCT GGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCA GGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGA TCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAA AAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTG AAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGA GGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGT CTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTG CAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAG TAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTT TTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCT GGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2018): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAA CCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCA CTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTA GTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGAC CTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCG TGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAT CCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGC TCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCT CAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTC ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTC TGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTC CGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGA GATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAG AGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCA AGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAG CCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAA TCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGA CAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTT TAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCA CTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCT GAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTG TATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGA CAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACA ATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCT TCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAG CCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAG CCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGG AGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATAT AAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTT TGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGT GAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGA GTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCAC TGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAG AGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTAT TTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTC CTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0156 a0001c0001t0005g0156	1	22	0.0455	2025	c.-90 others(2040): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTCTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCC AGGCTGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAACC TCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACT GGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGT AGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCT TAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTG AGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCC AGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTC ACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCA GCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCAT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTG TAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCG TCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGA TTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAG ACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAG TGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCC ACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATC AATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACA AAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTA GCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTGAGACAGAG TCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACT GCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGA GTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTA TTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACA GGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAAT AGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTC AGGAGTCCGAGTCGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCC TGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCC AGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTG AGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAG ATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAA AAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTG AAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGA GGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGT CTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTG CAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAG TAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTT TTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCT GGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2018): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGC TCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACT GCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGA GTCACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTC TGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACA GGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTGAGA TCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGG CTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCC TCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCT CATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGT AGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGT CACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGAT TACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGA CAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGT GATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCA CTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCA ATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAA AAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAG CCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCAC TGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTG AGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGT ATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGAC AGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAA TAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTT CAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC CTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGC CAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGA GATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATA TAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTT TGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGT GAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGA GTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCAC TGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAG AGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTAT TTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTC CTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	22	0.0455	2025	c.-90 others(2040): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTGAGATC CAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCT CACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTC AGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCA TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAG CCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCA CCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTA CAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACA GGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGA TCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACT GCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAAT ACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAA GGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCC TGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTG CAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAG TAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTAT TTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAG GCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATA GGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCA GGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCT GGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCA GGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGA TCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATATA AAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTG AAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGA GGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGT CTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTG CAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAG TAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTT TTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCT GGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2018): Show CGGCCTCCCAAAGTGCTGGGCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCA CCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCT CTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTG GGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTA GAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTT AAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGA GCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAT CCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGC TCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCT CAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTC ATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCC AAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACC CAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACA GGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGG GTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATC CACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGC ACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATAC GTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGG TTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTG GCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTG CAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAG TAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTAT TTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAG GCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATA GGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCA GGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCT GGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCA GGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGA TCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAA AAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTT TGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGT GAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGA GTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCAC TGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAG AGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTAT TTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTC CTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0121 a0001c0001t0008g0121	1	22	0.0455	2025	c.-90 others(2040): Show c.-90-160_-90-159insCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCA CCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCT CTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTG GGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTA GAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTT AAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGA GCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAT CCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGC TCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCT CAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTC ATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCC AAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACC CAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACA GGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGG GTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATC CACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGC ACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATAC GTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGG TTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTG GCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTG CAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAG TAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTAT TTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAG GCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATA GGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCA GGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCT GGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCA GGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGA TCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAA AAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTT TGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGT GAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGA GTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCAC TGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAG AGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTAT TTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTC CTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2018): Show CGGCCTCCCAAAGTGCTGGGCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCA CCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCT CTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTG GGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTA GAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTT AAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGA GCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA TCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGG CTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCC TCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCT CATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGC CAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCAC CCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTAC AGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAG GGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGAT CCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTG CACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATA CGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAG GTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCT GGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTG CAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAG TAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTAT TTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAG GCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATA GGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCA GGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCT GGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCA GGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGA TCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAA AAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTT TGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGT GAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGA GTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCAC TGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAG AGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTAT TTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTC CTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	22	0.0455	2025	c.-90 others(2040): Show c.-90-160_-90-159insCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCA CCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCT CTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTG GGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTA GAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTT AAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGA GCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA TCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGG CTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCC TCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCT CATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGC CAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCAC CCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTAC AGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAG GGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGAT CCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTG CACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATA CGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAG GTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCT GGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTG CAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAG TAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTAT TTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAG GCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATA GGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCA GGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCT GGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCA GGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGA TCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAA AAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTT TGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGT GAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGA GTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCAC TGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAG AGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTAT TTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTC CTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(2018): Show GCTATAACCACCACCACCACCACTATAACCATCACCACCATCACCACTAT AACCACCACTACCACCACCACCACTATAACCACCACCACCACTACTATAA CCACCATCATCATCACCACCACTACCACTACTGTAACCATCACCACCATC ACTGCTATAACCATCACCACTACCACCACCACTATAACCACCATCATCAT CACCACCACTACCACTACTATAACCATCACCACCATCACTGCTATAACCA CCACCACCACCACTATAACCATCACCACCATCACCACTATAACCACCACT ACCACCACCACCACTATAACCACCACCACCACTACTATAACCACCATCAT CATCACCACCACTACCACTACTGTAACCATCACCACCATCACTGCTATAA CCATCACCACTACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCAC CACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCA CCACTATAACCACCACCACCACTACTATAACCACCATCATCATCACCACC ACTACCACTACTGTAACCATCACCACCATCACTGCTATAACCACCACCAC CACCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTA TAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACC ACCACCACCACCACCACCACCACTATAATCATTACCACTATAACCACCAC TACCACCACTACCACTATGATAACCATCACCAACACCACTATAACCACCA TCATCATCACCACCACTACCACTACTATAACCATTACCACCATCACTGCT ATAACCACCACCACCACCACCATTATCACCATCACCATCACACACCACAA CTACCACCACCACCACCATCACCACTATAACCACTAGCACCACCACCACT ACTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACCAC TACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTA TAACCACCACCACCATCACCACTATAACCACCACTACCACCACCACCATT ATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTAC CACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCA CTATAACCACCACCACCATCACCACTATAACCACCACTACCACCACCACC ATTATAACCATCACCACCACCGCTATAACCACCATCATCATCACCACCAC TACCACTACTATAACCATTACCACCATTACTGCTATAACCACCACCACCA CCACCACCACCACTATAATCATTACCACTATAACCACCACTACCACCACC ACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCAC CACCACTACCACTACTATAACCATTACCACCATTACTACTATAACCACCA CCACCACCACCACCACCACTATAATCATTACCACTATAACCACCACTACC ACCACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCAT CACCACCACTACCACTACTTTAACCATTACCACCATTACTACTATAACCA CCACCACCACCACCACCACTATAATCATTACCACTATAACCACCACTACC ACCACTACCACTATGATAACCATCACCAACACCACTATAACCACCAATGC CAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGGGATAG GACCAACCAGGACCAACCAGGACCAACACCACCACCACTACTACCACTAC TATAACCATCACCACAATCACTGCTATAATCACCACCACCACCACCATCA CTATAATCATCACCATCATCACCACTATAACCACCACCACCACCACCACC ACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0087 a0001c0002t0031g0087	1	83	0.0120	2025	c.724 others(2044): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATTGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTTATAGTAGTAATGGTGGTAATGGTTAAAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGG TGGTGGTGGTGGTTATAGCAGTAATGGTGGTAATGGTTATAGTAGTGGTA GTGGTGGTGATGATGATGGTGGTTATAGCGGTGGTGGTGATGGTTATAAT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGGTGGTTATAG TGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATAGTAGTG GTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTAT AATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGGTGGTTA TAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAG TTGTGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTAT AGCAGTGATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGTGATGATGA TGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTA GTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGT GGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTA TAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTG GTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGT GGTGGTGATGATGATGGTGGTTATAGTAGTGGTGGTGGTGGTTATAGTGG TGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTG GTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGT AGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTAGTGGTGATGG TTATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTAGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGG TGGTTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTAGTGGTGATGGTTATAGCAGT GATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGATGATGGTGG TTATAGTAGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTT ATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
FOXRED1_chr11_126264154_126283126	126276308	T T	TGTGTGTG others(2018): Show TGTGTGTGTGTGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTG TGGTGTGTGTGTGTATGTATGGGTTGGGGAGAGTGTGTATGTGTGTGTGT ATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGT GTATGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGGTGTGTGT GTACGGTTGGGGAAAGTGTATGTGTGTGTGTGTGTGTGTGTATGGGGTTG GGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGTGTATGTGTG TATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTAGG GTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTATGGG GTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTGTGTGTGTGTGTA TGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTATGGGGTTGGGGAG AGTGGGGGTGTGTGTGTGTGTATGTGGGGTTGAGGAGGGTGTGTGTGTGG GGACAGGGTTGGGGAGGGTGTGTGTGTGTGGGGTTAGGGAGGGTGTGTAT GGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTATGT GTGTATGGGGTTGGGGAGGGTGTGTGGGGTTGGGGAGGGGGTGTGTGTGT GTTTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTATGGGGTTGGGGA GGGAGGGTGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTAGG GGGTTGGGGAGGGTGTGTGTGTGTGGGTATAGGGTTGGGAAGGGTGTGTG TGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGATGG TGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTATGGGGTT GGGGAGGGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGT GTGTGTGGACGGGGTTGGGGAGGGTTGCCGGCCATGCTGTTCCTGCAGTT CATAACTGCATTAGGGGTGTGTGTGTGTGCTGGGTTGGGTAGTGTATGTG GGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGA GGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTGTATGTGGGGGGG TTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTGGGG GGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAG GGTGTGTGTGTGTGTGGGGACGGGGTTGGGGTGGGTGTGTGTGTGTATGG GGTTGGGGAGGTGTGTGTATGTATGTATGGGGTTGGGGAAGGTGTGTGTA TGGTGTGTGTGTGTATGGGATTGGGGAGGGGGTGTGTGTGTGTGTGTATG GGGTCAGGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGG TGTGGACAGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGG TGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGG AGGGTGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGGGTGGGA GGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGTTG GGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGG GGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGAC GGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGT GTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGAG GTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGTTGG GGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGG GTGCGGGGTAGACAGGGTTGGGGAGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	4	0.2500	2025	c.972 others(2038): Show c.972-79_972-78insTGTGGTGTGTGTGTGTATGGGGTTGGGGAGGG TGTGTGTGTGTGGTGTGTGTGTGTATGTATGGGTTGGGGAGAGTGTGTAT GTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTG GGGAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTG TGGTGTGTGTGTACGGTTGGGGAAAGTGTATGTGTGTGTGTGTGTGTGTG TATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTG TGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGTGGTG TGTGTGTAGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTG TGTGTATGGGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTGTG TGTGTGTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTATGG GGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTATGTGGGGTTGAGGAGGGT GTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGGGTTAGGGA GGGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGG GTGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGGGGTTGGGGAGGGG GTGTGTGTGTGTTTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTATG GGGTTGGGGAGGGAGGGTGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGG TGTGTGTAGGGGGTTGGGGAGGGTGTGTGTGTGTGGGTATAGGGTTGGGA AGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGG TTGGGGATGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGT GTATGGGGTTGGGGAGGGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGT GTGTGTGTGTGTGTGTGGACGGGGTTGGGGAGGGTTGCCGGCCATGCTGT TCCTGCAGTTCATAACTGCATTAGGGGTGTGTGTGTGTGCTGGGTTGGGT AGTGTATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCATGTGTATG GGGTTGGGGAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTGTA TGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTGGGGAGAGT GTATGTGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGG GGTTGGGGAGGGTGTGTGTGTGTGTGGGGACGGGGTTGGGGTGGGTGTGT GTGTGTATGGGGTTGGGGAGGTGTGTGTATGTATGTATGGGGTTGGGGAA GGTGTGTGTATGGTGTGTGTGTGTATGGGATTGGGGAGGGGGTGTGTGTG TGTGTGTATGGGGTCAGGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAG GGTGTGTGGGTGTGGACAGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGG TTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTAT GGGGTTGGGGAGGGTGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGT GGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTG GACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAG GGTGTGTGGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTC GGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGT TGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTG GGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGG ACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGG GTGTGTGGGGGTGCGGGGTAGACAGGGTTGGGGAGGGTGTGTG	FOXRED1	ENSG00000110074.12	transcript	ENST00000263578.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
GALNT9_chr12_132191372_132334589	132241883	A A	ACACACCC others(2018): Show ACACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACA CCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACACCCCC TTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACACCCCCTTCCA GGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGC CCTCCCTATACCCATTACACACACAACACACACACTTCCCGGAGCCCTCC CTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTCCCTATA CCCATTACACACACAACACACCCCCTTCCCGGGGCCTTCCCTATACCCAT TACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACAC ACACGCCACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACG CCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACA CCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCC TTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACACTTCCC GGAGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGGC CCTCCCTATACCCATTAGACACACAACACACCCCCTTCCCGGGGCCTTCC CTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATA CCCATTACACACACGCCACACCCCCTTCCCAGGGCCCTCCCTATACCCAT TACACACACAACACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACG CCACACACCCTTCCCGGAGCCCCCCCTATACCCATTACACACACGCCACA CCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCC TTCCCAGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCC GGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCCAGGGC CCTCCCTATCCCCATTACACACACAACACACCCCCTTCCCGGGGCCTTCC CTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACAACACACCCCCTTCCAGGGGCCCTCCCTATACCCAT TACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACGCCACACACCCTTCCCGGAGCCCCCCCTATACCCATTACACACACG CCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACA CCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACCC TTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCC GGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACGCCACGCCCCCTTCCCGGGGCCCTCCCTATACCCAT TACACACACGCCACGCCCCCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACGCCACACACCCTTCCCGGCGCCCTCCCTATACCCATTACACACACG CCACGCCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACG CCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCC TTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCC GGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGC CTTCCCTATACCCATTACACACACGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	64	0.0156	2025	c.107 others(2044): Show c.1077+6026_1077+6027insGCGTGTGTGTAATGGGTATAGGGAAG GCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGG CGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGCGTGG CGTGTGTGTAATGGGTATAGGGAGGGCGCCGGGAAGGGTGTGTGGCGTGT GTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGCGTGGCGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGGGGCGTGGCGTGTGTGTAATGGG TATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAG GGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAA GGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGG TGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGG CGTGTGTGTAATGGGTATAGGGGGGGCTCCGGGAAGGGTGTGTGGCGTGT GTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTA ATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGTTGTGTGTGTAATGGG TATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAG GGAAGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGAGG GCCCTGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGGGGGCTCCGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGT GTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTA ATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGGG TATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAG GGAAGGCCCCGGGAAGGGGGTGTGTTGTGTGTCTAATGGGTATAGGGAGG GCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCTCC GGGAAGTGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGG TGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGGCGTGT GTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTA ATGGGTATAGGGAAGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGG TATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAG GGAGGGCTCCGGGAAGTGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCC TGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAA GGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
MAN1B1_chr9_137081985_137114183	137102262	T T	TAGGTCGG others(2018): Show TAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGACGTGCAGGTCGG TGCTGTTACACACATTCATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTA CATGCTGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCACGCTGT TGCAGGCGTGCAGGTCGGTGGTGGTGCATTCATGCTGTTGCAGGAGTACA GGTCGGTGGCGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGT TACATTCACGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCA TGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTG CAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGG TTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTAC ACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTAACAC TTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGGC GTGCAGGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTCGGT GGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTAC ACACATTAACGCTGTTGCAGGCGTGCAGGTCGGTGGTACACACATTCATG CTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCA TGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTC GGTGGTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTAC ATTCATGCTGTTGCAGGCGTGCAGGTCGGTGTTACACACATTCACGCTGT TGCAGGCGTGCAGGTCGGTACACACATTCATGCTGTTGCAGGCGTGCAGG TCGGTGGTGTTACACATTTTCACGCTGTTGCAGGCGTGCAGGTCGGTGCT GTTACACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTTACA CTGTTGCAGGCGTGCAGGTCAGTGGTGTTACATTCATGCTGTTGCAGGCC TGCAGGTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTC GGTGGTGTTACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACA GACATTAACGCTGCTGCAGGCGTGCAGGTCGGTGGTACACACATTCACGC TGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGT GCAGGTTGGTGTTACACACATTGACACTTGCAGGCGTGCGGGTCGGTGGT GTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATT CACGCTGTTGCAGGCGTGCAGGTCGGTGGTACACATGCTGTTGCAGGCGT GCAGGTCGGTGGTGTTACACACTTTCACGCTGTTGCAGACGTGCAGGTCG GTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTC ACACTTGCAGGCGTGCAGGTCGGTGTTGTTACACACTCATGCTGTTGCAG GCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGTGTGCAGGTCG GTGGTGTTACACACATTCACGCTGTTGCAGGCGTGTAGGTCGGTGGTGGT ACACACATTCATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATTCAC ACTGTTGCAGGCGTGCAGGTCGGTGGTTACATTCACACTGTTGCAGGCGT GCAGGTTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTA CACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTTACATTCACACT GTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACAGTTGCAGGCGTGC AGGTCAGTGGTGTTACACACTCACACTTGCAGGCGTGCAGGTCGGTGGTG TTACACACATGCTGTTGCAGGCGTGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG02897.hp2 others(3): Show HG02109.hp2 HG02809.hp2 HG02897.hp2 HG03486.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0113 a0001c0001t0005g0012 a0001c0001t0005g0113	6	22	0.2727	2025	c.125 others(2042): Show c.1254+616_1254+617insGCTGTTGCAGACGTGCAGGTCGGTGCTG TTACACACATTCATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGC TGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCACGCTGTTGCAG GCGTGCAGGTCGGTGGTGGTGCATTCATGCTGTTGCAGGAGTACAGGTCG GTGGCGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACAT TCACGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCATGCTG TTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGGC GTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGT GTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACA TTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTAACACTTGCA GGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGGCGTGCA GGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGT TACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACA TTAACGCTGTTGCAGGCGTGCAGGTCGGTGGTACACACATTCATGCTGTT GCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCATGCAG GTCGGTGGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGG TACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCA TGCTGTTGCAGGCGTGCAGGTCGGTGTTACACACATTCACGCTGTTGCAG GCGTGCAGGTCGGTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGT GGTGTTACACATTTTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTAC ACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTTACACTGTT GCAGGCGTGCAGGTCAGTGGTGTTACATTCATGCTGTTGCAGGCCTGCAG GTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGG TGTTACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACAGACAT TAACGCTGCTGCAGGCGTGCAGGTCGGTGGTACACACATTCACGCTGTTG CAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGG TTGGTGTTACACACATTGACACTTGCAGGCGTGCGGGTCGGTGGTGTTAC ACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGC TGTTGCAGGCGTGCAGGTCGGTGGTACACATGCTGTTGCAGGCGTGCAGG TCGGTGGTGTTACACACTTTCACGCTGTTGCAGACGTGCAGGTCGGTGCT GTTACACACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACT TGCAGGCGTGCAGGTCGGTGTTGTTACACACTCATGCTGTTGCAGGCGTG CAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGTGTGCAGGTCGGTGGT GTTACACACATTCACGCTGTTGCAGGCGTGTAGGTCGGTGGTGGTACACA CATTCATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATTCACACTGT TGCAGGCGTGCAGGTCGGTGGTTACATTCACACTGTTGCAGGCGTGCAGG TTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACAC ATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTTACATTCACACTGTTGC AGGCGTGCAGGTTGGTGTTACACACATTCACAGTTGCAGGCGTGCAGGTC AGTGGTGTTACACACTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACA CACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCAC	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
NKX1-1_chr4_1397932_1411442	1398058	G G	GGTAGATC others(2018): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCAGGCATCTGGATGTGAGTAGATCAGGTTGGATGCA GGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATACAGGGTG TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC AGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATACAGGGTGTTTTCAGGCATCTGGATGTG AGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATACA GGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC AGGCATCTGGATGTGGGTAGATCAGGTTGGATACAGGGTGTTTTCAGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTG GGTAGATCAGGTTGGATACAGGGTGTTTTCAGGCATCTGGATGTGAGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC AGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTG AGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGAGTAG ATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCAGGCATCTGGATGTGAGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	344	0.0029	2025	c.48 others(2036): Show c.4873_*4874insTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACTCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTACTCAC ATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CTGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCTGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCTGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCAC ATCCAGATGCCTGAAAACACCCTGTATCCAACCTGATCTACCCACATCCA GATGCCTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAA AACACCCTGTATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGTATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCTGAAAACACCCTGTATCCAACCTGATCTACCCACATCCAGATGC CTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGT ATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACTCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTAC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4873		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398178	G G	GGGCATCT others(2018): Show GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG CTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGCTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	334	0.0030	2025	c.47 others(2036): Show c.4753_*4754insTGAAAGCACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCGGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4753		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398257	A A	AGGGTGTT others(2018): Show AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATACAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC CGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCAGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02895.hp2 HG02615.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	284	0.0070	2025	c.46 others(2036): Show c.4674_*4675insGGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA GCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGTATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA GCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4674		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398328	G G	GGTAGATC others(2018): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGCTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGG ATACAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCAGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGCTTTC AGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG AGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAG ATCAGGTTGGATACAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTCTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCAGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	349	0.0029	2025	c.46 others(2036): Show c.4603_*4604insTCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAGAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGTATCCAACCTGATCTACTCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAGCAC CCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAA AGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGTATCCAACCTG ATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CTGAAAGCACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4603		chr4	TogoVar
SKAP2_chr7_26662068_26869590	26755286	T T	TAAGACTT others(2018): Show TAAGACTTAGTCCATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAAT TGTCCCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTC TCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGG ATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACA GACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCA AAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCT CTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAA ACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTG AAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCAT CAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGT TCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAA AAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAA GGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAG ATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAAC TATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTC CCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGC TGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGG ATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAA CCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCA AAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTA ATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAA CAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCGTCTGACA AAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAA AAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTT CTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCAT CATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAAACATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAA AAAAAAAAAAAAAGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0197 a0001c0001t0008g0197	1	273	0.0037	2025	c.308 others(2044): Show c.308-15323_308-15322insTTTTTTTTTTTTCTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGTTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG ACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTAC AGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAG CACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAG ATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATG ATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGACGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATGGACTAAGTCTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
THAP4_chr2_241579405_241642158	241590410	T T	TCGGCTGA others(2018): Show TCGGCTGATGATGATGGGCACTAGGACACGCAGAGCTGCCCGGCTGACGA TGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACT AGGACACGCAGAGCTGCCCGGCTGACGATGATGGGCACTAGGACACTCAG AGCTGCTCGGCTGATGATGATGGGCACTAGGACACACAGAACTGCTTGGC TGATGATCATGGGCACTAGGACACTCAGAACTGCCCGGCTGATGATGAGG GGCACTAGGACACTCAGAGCTGCTCGGCTGATGATAATGGGCACTAGGAC ACGCAGAGCTGCCCGGCTGACGATGATGGGCACTAGGACACACAGAACTG CCCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCGGCTGACG ATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGACGATGATGGGCAC TAGGACACTCAGAGCTGCTTGGCTGATGATGATGGGCACTAGGACACGCA GAGCTGCTCGGCTGATGATAATGGGCACTAGGACACTCAGAGCTGCTCGG CTGATGATCATGGGCACTAGGACACACAGAACTGCCCGGCTGATGATGAG GGGCACTAGGACACTCAGAAGTGCCCGGCTGATGATGAGGGGCACTAGGA CACTCAGAGCTGCCCGGGTGATGATAATGGGCACTAGGACACGCAGAGCT GCTCGGCTGATGATAATGGGCACTAGGACACTCAGAGCTGCTCAGCTGAT GATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGATGATGGGCA CTAGGACACACAGAACTGCTCGGCTGATGATGATGGGCACTAGGACACTC AGAGCTGCCCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCTCG GCTGATGATAATGGGCACTAGGACACACAGAACTGCCCGGCTGATGATGA GGGGCACTAGGACACTCAGAACTGCCCGGCTGATGATGAGAGGCACTAGG ACACTCAGAGCTGCTCGGCTGACGATAATGGGCACTAGGACACACAGAGC TGCTCGGCTGACGATAATGGGCACTAGGACACACAGAACTGCCCGGCTGA CGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATGATGGGC ACTAGGACACTCAGAGCTGCTCGGCTGATGATCATGGGCACTAGGACACA CAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCCC GGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCCCGGCTGATGATG ATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAG GACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACACAGAG CTGCTCGGCTGATGAGGGGCACTAGGACACACAGAACTGCCCGGCTGATG ATGAGGGGCACTAGGACACTCAGAACTGCCCGGCTGATGATGAGGGGCAC TAGGACACTCAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACACA GAGCTGCTCGGCTGACGATGATGGGCACTAGGACACACAGAGCTGCTCGG CTGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATGAT GGGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGGGCACTAGGA CACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCT GCTCGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCTTGGCTGAT GATGATGGGCACTAGGACACTCAGAGCTGCCCGGCTGACGATGATGGGCA CTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCAGTAGGACACTC AGAGCTGCTCAGCTGATGATGATGGGCACTAGGACACACAGAACTGCTTG GCTGATGATCATGGGCACTAGGACACTCAGAACTGCCCGGCTGATGATGA GGGGCACTAGGACACTCAGAGCTGCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0160 a0002c0004t0003g0160	1	388	0.0026	2025	c.161 others(2044): Show c.1615-5686_1615-5685insGGCAGCTCTGAGTGTCCTAGTGCCCC TCATCATCAGCCGGGCAGTTCTGAGTGTCCTAGTGCCCATGATCATCAGC CAAGCAGTTCTGTGTGTCCTAGTGCCCATCATCATCAGCTGAGCAGCTCT GAGTGTCCTACTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAG TGCCCATCATCGTCAGCCGGGCAGCTCTGAGTGTCCTAGTGCCCATCATC ATCAGCCAAGCAGCTCTGTGTGTCCTAGTGCCCATCATCATCAGCCGAGC AGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTG TCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGTGTCCTAGTGCCC ATCATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAG CCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTC TGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGAGTGTCCTA GTGCCCCTCATCATCAGCCGGGCAGTTCTGAGTGTCCTAGTGCCCCTCAT CATCAGCCGGGCAGTTCTGTGTGTCCTAGTGCCCCTCATCAGCCGAGCAG CTCTGTGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTC CTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCAT CATCATCAGCCGGGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCC GGGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTG TGTGTCCTAGTGCCCATGATCATCAGCCGAGCAGCTCTGAGTGTCCTAGT GCCCATCATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCG TCAGCCGGGCAGTTCTGTGTGTCCTAGTGCCCATTATCGTCAGCCGAGCA GCTCTGTGTGTCCTAGTGCCCATTATCGTCAGCCGAGCAGCTCTGAGTGT CCTAGTGCCTCTCATCATCAGCCGGGCAGTTCTGAGTGTCCTAGTGCCCC TCATCATCAGCCGGGCAGTTCTGTGTGTCCTAGTGCCCATTATCATCAGC CGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGGGCAGCTCT GAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGTTCTGTGTGTCCTAG TGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATC ATCAGCTGAGCAGCTCTGAGTGTCCTAGTGCCCATTATCATCAGCCGAGC AGCTCTGCGTGTCCTAGTGCCCATTATCATCACCCGGGCAGCTCTGAGTG TCCTAGTGCCCCTCATCATCAGCCGGGCACTTCTGAGTGTCCTAGTGCCC CTCATCATCAGCCGGGCAGTTCTGTGTGTCCTAGTGCCCATGATCATCAG CCGAGCAGCTCTGAGTGTCCTAGTGCCCATTATCATCAGCCGAGCAGCTC TGCGTGTCCTAGTGCCCATCATCATCAGCCAAGCAGCTCTGAGTGTCCTA GTGCCCATCATCGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCAT CGTCAGCCGGGCAGTTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGGG CAGTTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGCTCTGCGT GTCCTAGTGCCCATTATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCC CCTCATCATCAGCCGGGCAGTTCTGAGTGTCCTAGTGCCCATGATCATCA GCCAAGCAGTTCTGTGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCT CTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGCTCTGCGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCA TCGTCAGCCGGGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGCCG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CACCACAC others(2018): Show CACCACACCCTACACACACCACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCTACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCTACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACCCTACACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACCCTACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACCCTACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCCCACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCACACA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	96	0.0104	2025	c.35 others(2044): Show c.35+21564_*35+21565insACCACACCCTACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCTACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCTACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCTACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCTACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCTACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCCCACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UCKL1_chr20_63934829_63961416	63948630	G G	GAGGGGTG others(2018): Show GAGGGGTGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGT GTGAAAGGGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGG GCGTGTGTGAAAGGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAG GGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGAGAGTGGGGGCGTGTG TGAGGGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGTAGGGGC GTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGG CAGGGGCGTGTGTGGGGGGGGCGTGTGTGAGGGGGGGGCGTGTGTGAGAG GGAGGGGGCGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGT GTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAAGGGAGGG GTGTGTGTGAGAGTGGGGGCGTGTGTGAGAGGGGCGTGAGAGGTAGGGGC GTGTGTGAGAGGGAGGGGTGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGG GAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGT GAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGTGGGGGCG TGTGTGGGGGGGCGTGTGTGAGGGGGGGCGTGTGTGAGAGGTAGGGGCGT GTGTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGCAGG GGCGTGTGTGGGGGGGGGCGTGTGTGAGGGGGGGGCGTGTGTGAGAGGGA GGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGT GAGAGGGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGGGGGGGGCGTG TGTGAGGGGGGGCGTGTGAGAGGGAGGGGCGTGTGTGGGGAGGGGCGTGT GTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAG GGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAAGGGAGGGGTGTGTGTGAG AGTGGGGGCGTGTGTGAGAGTTAGGGGCGTGAGAGGTAGGGGCGTGTGTG AGAGGGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGT GTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGG AGGGGCGTGTGTGAGGGAGGGGGCGTGTGCGAGAGGGAGGGGCGTGTGTG AGAGGGAGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGC GTGTGAGAGGGAGGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGTGAGGG AGGGGCGTGAGAGGGAGGGGCGTGTGTGAGGGGGGGCGTGTGTGAGAGGT AGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGCGTGT GTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGG GCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAG AGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAAGGGAGGGGCGT GTGTGAGAGTGGGGGCGTGTGTGAGAGGGGCGTGAGAGGTAGGGGCGTGT GTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAG GGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGT GAGAGGGAGGGGCGTGTGTGAAGGGAGGGGCGTGTGTGAGAGTGGGGGCG TGTGTGAGAGGGGCGTGAGAGGTAGGGGCGTGTGTGAGAGGGAGGGGGCG TGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGG GCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGAGA GGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAAGGGGCG TGTGAGAGGGAGGGGCGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 NA20805.hp2 HG01167.hp1 HG01169.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0173 a0001c0001t0001g0007 a0001c0001t0001g0173	3	148	0.0203	2025	c.114 others(2042): Show c.114-1988_114-1987insTCTCACACACGCCCCTCCCTCTCACACG CCCCTTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTC TCACACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCACACACGCCC CTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACG CCCCCTCCCTCTCACACACGCCCCTACCTCTCACGCCCCTCTCACACACG CCCCCACTCTCACACACGCCCCTCCCTTCACACACGCCCCTCCCTCTCAC ACACGCCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCT CCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACAC ACGCCCCTACCTCTCACGCCCCTCTCACACACGCCCCCACTCTCACACAC GCCCCTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCT CACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCC CTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCTCCCTCTCACAC ACGCCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTAC CTCTCACACACGCCCCCCCTCACACACGCCCCTCCCTCTCACGCCCCTCC CTCACACACACGCCCCTGCCTCTCACACACGCCCCCTCCCTCTCACACGC CCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCCTCCCTCTCA CACACGCCCCTCCCTCTCGCACACGCCCCCTCCCTCACACACGCCCCTCC CTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACAC GCCCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCCCTCTCA CACACGCCCCTACCTCTCACGCCCCTAACTCTCACACACGCCCCCACTCT CACACACACCCCTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCT CCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACAC ACGCCCCTCCCCACACACGCCCCTCCCTCTCACACGCCCCCCCTCACACA CGCCCCCCCCACACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCAC ACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTC CCTCTCACACACGCCCCCCCCTCACACACGCCCCCCCCCACACACGCCCC TGCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCCCTCTCACACAC GCCCCTACCTCTCACACACGCCCCCCCTCACACACGCCCCCCCACACACG CCCCCACTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCAC ACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCTCCC TCTCACACACGCCCCTCCCTCTCACACACACCCCTCCCTCTCACACACGC CCCTACCTCTCACGCCCCTCTCACACACGCCCCCACTCTCACACACACCC CTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCACACAC ACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACGCCCCCTCCCT CTCACACACGCCCCCCCCTCACACACGCCCCCCCCACACACGCCCCTGCC TCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGC CCCTACCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCCCCTCACA CACGCCCCCACTCTCACACACGCCCCTGCCTCTCACACACGCCCCTCCCT CTCACACACGCCCCCTCCCTCACACACGCCCCTCCCTTTCACACACGCCC CCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCCCTTTCACAC ACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACACCCCT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
CCDC6_chr10_59783747_59911556	59882314	G G	GGGAGAAG others(2019): Show GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGAAAAGCCGCGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA GGAAAGCCGAGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG CGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGA AGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCC GCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGG GGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAG GAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAA GCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGC GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAG GAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAG CCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCG GGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAG GAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAA GCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAG GAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAA AGCCGCGGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0098 a0001c0005t0004g0098	1	270	0.0037	2026	c.303 others(2045): Show c.303+23807_303+23808insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTT CCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTT CTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGG CTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTT CCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTC CTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTC CCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTT TCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCC CGCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTT CTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTT CCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTC CCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCG CGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCC TTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCC GGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCTCGGCTTTC CTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTT CCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCCGCGGCTTTTCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDHR2_chr5_176544342_176600824	176591775	G G	GTTGTGAT others(2019): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGA GGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGT TGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGG TGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGT TGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGG TGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGA TGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGA TGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGATGGTGG TGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGATGG TGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGA TGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGG TGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGA TGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTG TGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGG TTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGA TGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGG TGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGA TGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGG TGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTG AGGTGATGGTGATGGTTGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	176	0.0057	2026	c.373 others(2043): Show c.3734+292_3734+293insTGTGATGGTGATGGTGGTGATGATGGTG TTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATG GTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATG ATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTG ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATG GTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTGGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTGGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGA GGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGT TGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGG TGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGT TGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGG TGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGA TGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGA TGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGG TGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2019): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAA CCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCA CTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTA GTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGAC CTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCG TGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTGAGATC CAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCT CACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTC AGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCT GTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCC GTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAG ATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGA GACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAA GTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGC CACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAAT CAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGAC AAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTT AGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTC ACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCC TGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTT GTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATG ACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAAC AATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTC TTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCA GCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTA GCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGG CTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTG GAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATA TAAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACT TTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTG TGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGG AGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCA CTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCA GAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTA TTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACT CCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	22	0.0455	2026	c.-90 others(2041): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTCTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCC AGGCTGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAACC TCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACT GGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGT AGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCT TAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTG AGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCA GTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCA CTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAG CCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGT AGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGT CACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGAT TACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGA CAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGT GATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCA CTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCA ATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAA AAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAG CCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCAC TGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTG AGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGT ATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGAC AGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAA TAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTT CAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGC CTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGC CAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGA GATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATA AAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTT GAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTG AGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAG TCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACT GCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGA GTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATT TTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCC TGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2019): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGC TCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACT GCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGA GTCACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTC TGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACA GGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTGAG ATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCG GCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGC CTCAGCCTCCTGAATCACTGGGATTACAGGCATGGACCACCACACGCAGC TCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTG TAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCG TCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGA TTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAG ACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAG TGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCC ACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATC AATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACA AAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTA GCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCA CTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCT GAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTG TATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGA CAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACA ATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCT TCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAG CCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAG CCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGG AGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATAT ATAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACT TTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTG TGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGG AGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCA CTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCA GAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTA TTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACT CCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	22	0.0455	2026	c.-90 others(2041): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTGAGAT CCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGC TCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCT CAGCCTCCTGAATCACTGGGATTACAGGCATGGACCACCACACGCAGCTC ATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTA GCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTC ACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATT ACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGAC AGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTG ATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCAC TGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAA TACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAA AGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGC CTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGAG TCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACT GCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGA GTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTA TTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACA GGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAAT AGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTC AGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCC TGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCC AGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTG AGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAG ATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAT AAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTT GAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTG AGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAG TCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACT GCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGA GTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATT TTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCC TGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2019): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGC TCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACT GCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGA GTCACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTC TGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACA GGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTGAG ATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCG GCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGC CTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGC TCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTG TAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCG TCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGA TTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAG ACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAG TGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCC ACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATC AATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACA AAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTA GCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCA CTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCT GAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTG TATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGA CAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACA ATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCT TCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAG CCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAG CCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGG AGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATAT ATAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACT TTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTG TGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGG AGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCA CTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCA GAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTA TTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACT CCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18969.hp2 HG00597.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0100 a0001c0002t0004g0099 a0001c0001t0002g0100 a0001c0002t0004g0099	2	23	0.0870	2026	c.-90 others(2041): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTGAGAT CCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGC TCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCT CAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTC ATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTA GCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTC ACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATT ACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGAC AGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTG ATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCAC TGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAA TACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAA AGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGC CTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGAG TCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACT GCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGA GTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTA TTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACA GGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAAT AGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTC AGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCC TGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCC AGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTG AGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAG ATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAT AAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTT GAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTG AGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAG TCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACT GCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGA GTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATT TTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCC TGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2019): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCT TCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCC TGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGC AGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCT GTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCC GTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAG ATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGA GACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAA GTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGC CACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAAT CAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGAC AAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTT AGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTC ACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCC TGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTT GTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATG ACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAAC AATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTC TTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCA GCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTA GCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGG CTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTG GAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATA TAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACT TTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTG TGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGG AGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCA CTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCA GAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTA TTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACT CCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	22	0.0455	2026	c.-90 others(2041): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTG TCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAA CCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCA CTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTA GTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGAC CTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCG TGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTC GGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTG CCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAG CTCATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGT AGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGT CACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGAT TACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGA CAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGT GATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCA CTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCA ATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAA AAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAG CCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCAC TGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTG AGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGT ATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGAC AGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAA TAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTT CAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC CTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGC CAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGA GATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATA AGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTT GAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTG AGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAG TCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACT GCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGA GTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATT TTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCC TGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2019): Show CGGCCTCCCAAAGTGCTGGGCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTC ACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACC TCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACT GGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGT AGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCT TAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTG AGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTC GGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTG CCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAG CTCATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTA GCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTC ACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATT ACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGAC AGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTG ATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCAC TGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAA TACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAA AGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGC CTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGAG TCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACT GCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGA GTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTA TTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACA GGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAAT AGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTC AGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCC TGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCC AGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTG AGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAG ATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAA AAAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACT TTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTG TGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGG AGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCA CTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCA GAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTA TTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACT CCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	22	0.0455	2026	c.-90 others(2041): Show c.-90-160_-90-159insCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTC ACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACC TCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACT GGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGT AGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCT TAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTG AGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTC GGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTG CCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAG CTCATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTA GCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTC ACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATT ACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGAC AGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTG ATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCAC TGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAA TACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAA AGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGC CTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGAG TCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACT GCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGA GTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTA TTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACA GGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAAT AGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTC AGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCC TGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCC AGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTG AGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAG ATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAA AAAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACT TTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTG TGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGG AGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCA CTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCA GAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTA TTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACT CCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPRIN1_chr5_176590802_176615156	176591775	G G	GTTGTGAT others(2019): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGA GGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGT TGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGG TGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGT TGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGG TGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGA TGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGA TGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGATGGTGG TGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGATGG TGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGA TGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGG TGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGA TGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTG TGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGG TTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGA TGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGG TGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGA TGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGG TGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTG AGGTGATGGTGATGGTTGTGATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	209	0.0048	2026	c.50 others(2037): Show c.5032_*5033insTCACCATCACAACCATCACCATCACCTCAACACC AACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAAC ACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTC AACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCAC CTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCAC CACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCAT CACCACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCAC CATCACCACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACCACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCAT CATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACAC CATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAA CACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACAC CAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAA CACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCT CAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCA CCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCA TCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCA CCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCA TCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAA CCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCA CAACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCA TCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCA CCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCA TCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCA CCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCA CCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCA TCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCA TCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACA CCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCA ACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACA CCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCA ACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACC TCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATC ACCTCAACACCAACACCATCATCACCACCATCACCATCACAA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4026		chr5	TogoVar
TERT_chr5_1248167_1300068	1273345	C C	CACGACCG others(2019): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGAC CCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAG TCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCT ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACA GTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCA CAACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCAC AGTCACCACATCAGGCCCCACGACCGCCATCCACAGTCACCACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACCACATCAGACCCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	369	0.0027	2026	c.228 others(2045): Show c.2287-1066_2287-1065insAGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGCCTGATGTGGTGAC TGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTT GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGA CTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
COL18A1_chr21_45400165_45518720	45500695	T T	TGTGTGTT others(2020): Show TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGGG GTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA GTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0183 a0001c0026t0001g0183	1	226	0.0044	2027	c.268 others(2046): Show c.2683+3040_2683+3041insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT GGGGTTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTGTGGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTG TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG T	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CSF2RA_chrX_1263814_1314935	1274561	A A	ATAATCCA others(2020): Show ATAATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGCTGACGGGCTTGAGC TACTGTGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATC CAGTCTTGCTCTGTCACCCAGGCTGTAGTGCAGTGGTGCGATCTCAGCTC ACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCA GGCTCTCGAGTCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAAT TTTTCTATTTTTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTC TTGAACTTCTGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCT GGGATGACAGGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCA GTGGTGCGATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTC AAACGATTCTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGG ACCACCACACGCAGCTCATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGT AGCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTT CAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTG GCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGA CATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCT AAGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATAC ACAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGAT CTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCG CAGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTA ATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCTGCCCATCTTGGCCTCCCAAAGTG CTGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTT ACATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAAT TCCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTT CGAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTAC AAAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTAC TCAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGC AGTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAA CTCTTATATATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAG AGGAAACAATCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTT CCTTGTGGCCAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTT TTGTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATG GCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCT ACTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGC CCAACTAATTTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCC AGGCTGGTGTCAAACTCCTGGCCTCAGG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	132	0.0076	2027	c.-90 others(2042): Show c.-90-193_-90-192insAATCCACTTGCCTCGGCCTCCCAAAGTGCT GGGCTGACGGGCTTGAGCTACTGTGCCCGGCCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGTAGTGCA GTGGTGCGATCTCAGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCA AATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGGGATTAGAGGCACTCA CCACCACGCCCAGCTAATTTTTCTATTTTTAGTAGAGACGGGGCTTCACC ATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTAAGTGATCCACCTGCC TCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACTGTGCCCGGAC TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGT CACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCACTCTCACTGCAA CCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTCA CTGGGATTACAGGCATGGACCACCACACGCAGCTCATTTTTTTTTTTTTT TTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAACCTCCGTCACCCAGGTTCAAGAGATTCTCC TGCCTCAACCTCCCGAGTAGCTGAGATTACAGGCACCTGCCACCGCGCCC GGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAG GCTGTTCTCGAACTCCTGGCCTCAAGTGATCCACCTGCCTCGGCCTCCCA AAGTGCTGGGATGACAGGCATGAGCCACTGCACCCGGCCGCTTTTATACA TTTTAGGGATATATGAGACATCAATCAATACGTGTAAGATATGCATTGAT GATGTCCGGTAAGTCCCTAAGTGACAAAAGGTTTCATTCGAGTCCTTGAT CAGTTTTCCACAGAATACACAGTTTAGCCTGGCTCAGTAAATCTGCATTT TTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCT GGAGTGCAGTCATGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTT CAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCTGGGACTACAGGCTCC CACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAAAGACGGGGTTT CACCCTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCA TCTTGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCGCGCCCAG CCCTAAATCTGCATTTTTACATGAACAATAGGGCAGAGGAGCTGGGCACG GTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGTCCGAGTCGGGTGGAT CACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGGAACCCC CGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGTAGTGTGGTGGTGGGT GCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAAT CTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATGCCACTGCACTCCAGC CTGGGCAACAGAGCGAAACTCTTATATATAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAATCTGTTTGTC CTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGGAGATATGTAG TTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCTCTCTGTCAC CCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCGCCTC CCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGATTAC AGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTAGCAGAGAAAG GGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGCCTCAGGT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2020): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAA CCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCA CTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTA GTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGAC CTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCG TGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTGAGATC CAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCT CACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTC AGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCT GTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCC GTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAG ATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGA GACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAA GTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGC CACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAAT CAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGAC AAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTT AGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTTGAGAC AGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCT CACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTC CTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTT TGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGAT GACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAA CAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCT CTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCGGGAGTTCGAGACC AGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATT AGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAG GCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGT GGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTAT ATAAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGAC TTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATT GTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATG GAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTC ACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCC AGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGT ATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAAC TCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0157 a0002c0006t0003g0157	1	22	0.0455	2027	c.-90 others(2042): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTCTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCC AGGCTGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAACC TCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACT GGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGT AGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCT TAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTG AGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCA GTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCA CTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAG CCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGT AGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGT CACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGAT TACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGA CAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGT GATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCA CTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCA ATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAA AAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAG CCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCA CTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCT GAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTG TATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGA CAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACA ATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCT TCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAG CCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAG CCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGG AGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATAT AAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTT TGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGT GAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGA GTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCAC TGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAG AGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTAT TTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTC CTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2020): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGC TCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACT GCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGA GTCACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTC TGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACA GGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTGA GATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTC GGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTG CCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAG CTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCT GTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCC GTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAG ATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGA GACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAA GTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGC CACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAAT CAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGAC AAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTT AGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTC ACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCC TGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTT GTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATG ACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAAC AATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTC TTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCA GCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTA GCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGG CTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTG GAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATA TATAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGAC TTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATT GTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATG GAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTC ACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCC AGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGT ATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAAC TCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	22	0.0455	2027	c.-90 others(2042): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTGAGA TCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGG CTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCC TCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCT CATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGT AGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGT CACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGAT TACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGA CAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGT GATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCA CTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCA ATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAA AAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAG CCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCAC TGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTG AGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGT ATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGAC AGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAA TAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTT CAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC CTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGC CAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGA GATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATA TAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTT TGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGT GAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGA GTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCAC TGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAG AGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTAT TTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTC CTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2020): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTG CTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCAC TGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCG AGTCACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTAT TTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTT CTGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGAC AGGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTGA GATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTC GGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTG CCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAG CTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCT GTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCC GTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAG ATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGA GACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAA GTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGC CACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAAT CAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGAC AAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTT AGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTC ACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCC TGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTT GTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATG ACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAAC AATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTC TTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCA GCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTA GCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGG CTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTG GAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATA TATAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGAC TTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATT GTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATG GAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTC ACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCC AGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGT ATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAAC TCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	22	0.0455	2027	c.-90 others(2042): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTGAGA TCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGG CTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCC TCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCT CATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGT AGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGT CACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGAT TACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGA CAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGT GATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCA CTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCA ATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAA AAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAG CCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCAC TGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTG AGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGT ATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGAC AGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAA TAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTT CAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC CTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGC CAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGA GATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATA TAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTT TGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGT GAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGA GTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCAC TGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAG AGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTAT TTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTC CTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
EI24_chr11_125564477_125589684	125589067	A A	AAGAACTA others(2020): Show AAGAACTATGTCTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTAAT TTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGG CAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAA CAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTG TTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGA GCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCT TAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGG GTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGACAGAGGAATTTTT CTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACAC AGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCGCCTTTCCCGCCT TTCTATTCCACAAGGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCT GTTGGGCACACCTCCCAGACGGGGTGGTGGCTGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCCACTGGCCGGGCAGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGTCGTGGGGCTGACA CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGTCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCTCCCCACATCTCAGACGATG GGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGG AAGAGGTGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCT CCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAG ACGATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGGTGGC GGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGG CTGGGAGGTGTAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGC CTGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGC ACCTCGGGAGGCCGAGGTTGGCGGATCACTCGCGGTTAGGGGCTGGAGAC CGGCCCGGCCAACACAGCGAAACCCTGTCTCCACCAAAACCAGTCAGGCG TGGCGGCGCGTGCCTGCAATCGCAGGCACTCGGCAGACTGAGGCAGGAGA ATCAGGCAGGGAGGATGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGC TTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGAGCGAGAGGGA GACGGAGAGCGAGAGGGAGACGGAGAGCGAGAGGGAGACGGAGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAG GGAGAGGGGGAGGGAGAGGGAGAGGGCTGAGGTGTGTTTTTAAAAGGATG TTAGCTTTTAATTAAGCTGACTTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0102 a0001c0002t0012g0102	1	322	0.0031	2027	c.53 others(2038): Show c.5384_*5385insAGAACTATGTCTTTTTTTTTTTTTTTTTTTTTTT ATTTTTTTTTTTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCA CAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGC AGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTG CGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGT GATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCAC ATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGT TTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAA GACAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTC TACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCC CCGCCTTTCCCGCCTTTCTATTCCACAAGGCCGCCATTGTCATCCTGGCC CGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCTGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACTGGCCG GGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCG GTCGTGGGGCTGACACCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGTCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCTCCCC ACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGAT GTGATGGCGGCTGGGAAGAGGTGCTCCTCACTTCCTAGATGGGATGGCGG CCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGG CTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTC CCAGACGGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGA GGCCAAGGCAGGCGGCTGGGAGGTGTAGGTTGTAGTGAGCCGAGATCACG CCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCC GTCTGCAATCCCGGCACCTCGGGAGGCCGAGGTTGGCGGATCACTCGCGG TTAGGGGCTGGAGACCGGCCCGGCCAACACAGCGAAACCCTGTCTCCACC AAAACCAGTCAGGCGTGGCGGCGCGTGCCTGCAATCGCAGGCACTCGGCA GACTGAGGCAGGAGAATCAGGCAGGGAGGATGCAGTGAGCCGAGATGGCA GCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAG GGAGAGCGAGAGGGAGACGGAGAGCGAGAGGGAGACGGAGAGCGAGAGGG AGACGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGCTGAGGTGT GTTTTTAAAAGGATGTTAGCTTTTAATTAAGCTGACTTTTTTC	EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding		4384		chr11	TogoVar
FOXRED1_chr11_126264154_126283126	126276308	T T	TGTGTGGT others(2020): Show TGTGTGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGGTGT GTGTGTGTATGTATGGGTTGGGGAGAGTGTGTATGTGTGTGTGTATGGGG TTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGTGTATGT GTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGGTGTGTGTGTACGG TTGGGGAAAGTGTATGTGTGTGTGTGTGTGTGTGTGTATGGGGTTGGGGA AGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGTGTATGTGTGTATG GGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGTGGTGTGTGTAGGGTTGGG GAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTATGGGGTTGAG GAGGGTGTGTGTGTATGGGGTCGGGGAGGGTGTGTGTGTGTGTATGGGGT TGGGGAGAGTGGGGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGGG GGTGTGTGTGTGTGTATGTGGGGTTGAGGAGGGTGTGTGTGTGGGGACAG GGTTGGGGAGGGTGTGTGTGTGTGGGGTTAGGGAGGGTGTGTATGGGGTT GGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTATGTGTGTAT GGGGTTGGGGAGGGTGTGTGGGGTTGGGGAGGGGGTGTGTGTGTGTTTAT GGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTATGGGGTTGGGGAGGGAGG GTGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGGGGGTTGG GGAGGGTGTGTGTGTGTGGGTATAGGGTTGGGAAGGGTGTGTGTGTGTGT ATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGATGGTGTGTGT GTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGG GGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGTG GACGGGGTTGGGGAGGGTTGCCGGCCATGCTGTTCCTGCAGTTCATAACT GCATTAGGGGTGTGTGTGTGTGCTGGGTTGGGTAGTGTATGTGGGGGGGT TGGGGAGGGGGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGGGGTG TGTGTGTGTGTGTGCTGGGTTGGGGAAAGTGTATGTGGGGGGGTTGGGGA GGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTGTATGTGGGGGGG TTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTGGGG GGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAG GGTGTGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTGGGGGGGTTG GGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGGTGTG TGTGTGTGTGGGGACGGGGTTGGGGTGGGTGTGTGTGTGTATGGGGTTGG GGAGGTGTGTGTATGTATGTATGGGGTTGGGGAAGGTGTGTGTATGGTGT GTGTGTGTATGGGATTGGGGAGGGGGTGTGTGTGTGTGTGTATGGGGTCA GGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGTGTGGA CAGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTG TGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTG TGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGGGTGGGAGGTGGA CGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGTTGGGGAGG GTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGG AGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGATGGGGTT GGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGG GGGTGCGGGGTAGACAGGGTTGGGGAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp1 HG01884.hp2 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0042 a0002c0003t0002g0042	2	5	0.4000	2027	c.972 others(2040): Show c.972-81_972-80insGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTG TGTGTGTGGTGTGTGTGTGTATGTATGGGTTGGGGAGAGTGTGTATGTGT GTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGA GAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGGT GTGTGTGTACGGTTGGGGAAAGTGTATGTGTGTGTGTGTGTGTGTGTGTA TGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGTG TATGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGTGGTGTG TGTAGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTG TATGGGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTGTGTGTG TGTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTATGGGGTT GGGGAGAGTGGGGGTGTGTGTGTGTGTATGTGGGGTTGAGGAGGGTGTGT GTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGGGTTAGGGAGGGT GTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGT GTATGTGTGTATGGGGTTGGGGAGGGTGTGTGGGGTTGGGGAGGGGGTGT GTGTGTGTTTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTATGGGGT TGGGGAGGGAGGGTGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTG TGTGGGGGTTGGGGAGGGTGTGTGTGTGTGGGTATAGGGTTGGGAAGGGT GTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGG GATGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTATG GGGTTGGGGAGGGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTG TGTGTGTGTGTGGACGGGGTTGGGGAGGGTTGCCGGCCATGCTGTTCCTG CAGTTCATAACTGCATTAGGGGTGTGTGTGTGTGCTGGGTTGGGTAGTGT ATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCATGTGTATGGGGTT GGGGAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTGTATGTGG GGGGGTTGGGGAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTG TATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTGGGGAGA GTGTATGTGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTAT GGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTAT GTGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTT GGGGAGGGTGTGTGTGTGTGTGGGGACGGGGTTGGGGTGGGTGTGTGTGT GTATGGGGTTGGGGAGGTGTGTGTATGTATGTATGGGGTTGGGGAAGGTG TGTGTATGGTGTGTGTGTGTATGGGATTGGGGAGGGGGTGTGTGTGTGTG TGTATGGGGTCAGGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTG TGTGGGTGTGGACAGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGGTTGG GGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGG TTGGGGAGGGTGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGG GTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACG GGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTG TGTGGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGG GTGGATGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGG GAGGGTGTGTGGGGGTGCGGGGTAGACAGGGTTGGGGAGGGTGTG	FOXRED1	ENSG00000110074.12	transcript	ENST00000263578.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXRED1_chr11_126264154_126283126	126276308	T T	TGTGTGTG others(2020): Show TGTGTGTGTGTGTGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTG TGTGGTGTGTGTGTGTATGTATGGGTTGGGGAGAGTGTGTATGTGTGTGT GTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAGT GTGTATGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGGTGTGT GTGTACGGTTGGGGAAAGTGTATGTGTGTGTGTGTGTGTGTGTATGGGGT TGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGTGTATGTG TGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTA GGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTATG GGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTGTGTGTGTGTG TATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTATGGGGTTGGGG AGAGTGGGGGTGTGTGTGTGTGTATGTGGGGTTGAGGAGGGTGTGTGTGT GGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGGGTTAGGGAGGGTGTGT ATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTAT GTGTGTATGGGGTTGGGGAGGGTGTGTGGGGTTGGGGAGGGGGTGTGTGT GTGTTTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTATGGGGTTGGG GAGGGAGGGTGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTA GGGGGTTGGGGAGGGTGTGTGTGTGTGGGTATAGGGTTGGGAAGGGTGTG TGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAT GGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTATGGGG TTGGGGAGGGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGT GTGTGTGTGGACGGGGTTGGGGAGGGTTGCCGGCCATGCTGTTCCTGCAG TTCATAACTGCATTAGGGGTGTGTGTGTGTGCTGGGTTGGGTAGTGTATG TGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCATGTGTATGGGGTTGGG GAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTGTATGTGGGGG GGTTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTGG GGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTGGGG AGGGTGTGTGTGTGTGTGGGGACGGGGTTGGGGTGGGTGTGTGTGTGTAT GGGGTTGGGGAGGTGTGTGTATGTATGTATGGGGTTGGGGAAGGTGTGTG TATGGTGTGTGTGTGTATGGGATTGGGGAGGGGGTGTGTGTGTGTGTGTA TGGGGTCAGGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTG GGTGTGGACAGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGGTTGGGGAG GGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGG GGAGGGTGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGGGTGG GAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGT TGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTG GGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGG ACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGG GTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGG AGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGTT GGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGG GGGTGCGGGGTAGACAGGGTTGGGGAGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0094 a0001c0001t0006g0094	1	4	0.2500	2027	c.972 others(2040): Show c.972-79_972-78insTGTGTGGTGTGTGTGTGTATGGGGTTGGGGAG GGTGTGTGTGTGTGGTGTGTGTGTGTATGTATGGGTTGGGGAGAGTGTGT ATGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGT TGGGGAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTG TGTGGTGTGTGTGTACGGTTGGGGAAAGTGTATGTGTGTGTGTGTGTGTG TGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAG TGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGTGG TGTGTGTGTAGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGG TGTGTGTATGGGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTG TGTGTGTGTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTAT GGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTATGTGGGGTTGAGGAGG GTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGGGTTAGG GAGGGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGA GGGTGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGGGGTTGGGGAGG GGGTGTGTGTGTGTTTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTA TGGGGTTGGGGAGGGAGGGTGGGTGTGTGTGTGTGTATGGGGTTGGGGAG GGTGTGTGTAGGGGGTTGGGGAGGGTGTGTGTGTGTGGGTATAGGGTTGG GAAGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGG GGTTGGGGATGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGT GTGTATGGGGTTGGGGAGGGGGTGTGTGTGTGTATGGGGTTGGGGAGGGT GTGTGTGTGTGTGTGTGTGGACGGGGTTGGGGAGGGTTGCCGGCCATGCT GTTCCTGCAGTTCATAACTGCATTAGGGGTGTGTGTGTGTGCTGGGTTGG GTAGTGTATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCATGTGTA TGGGGTTGGGGAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTG TATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTGGGGAGA GTGTATGTGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTAT GGGGTTGGGGAGGGTGTGTGTGTGTGTGGGGACGGGGTTGGGGTGGGTGT GTGTGTGTATGGGGTTGGGGAGGTGTGTGTATGTATGTATGGGGTTGGGG AAGGTGTGTGTATGGTGTGTGTGTGTATGGGATTGGGGAGGGGGTGTGTG TGTGTGTGTATGGGGTCAGGGAGGGTGTGTGTGTGGGGACAGGGTTGGGG AGGGTGTGTGGGTGTGGACAGGGTTGGGGAGGGTGTGTGTGTGTGTATGG GGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGT ATGGGGTTGGGGAGGGTGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGT GTGGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGG TGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGG AGGGTGTGTGGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGG TCGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGG GTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTG TGGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGT GGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGA GGGTGTGTGGGGGTGCGGGGTAGACAGGGTTGGGGAGGGTGTGTG	FOXRED1	ENSG00000110074.12	transcript	ENST00000263578.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LSS_chr21_46183446_46233774	46184617	C C	CCAACCCA others(2020): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCC TGTGATGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGATGGGCACCCACCACCACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACC AACAACCCAGTGGGCCAGCCACACCTCCAGCCCTGTGATGGGTACTCAGG ACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCA CCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGG GTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTG TGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCC CTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCA GCCCTGTGATGGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACA CCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCG GCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGT GGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAA CCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCAC CAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGAC CACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACC CACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGC ACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATG GGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCT GTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGC CCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACC TCCAGCCCTGTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGC CACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGG GCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACC CAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCA CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCA GGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGATGGGTACTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0125 a0001c0006t0009g0125	1	341	0.0029	2027	c.64 others(2038): Show c.6486_*6487insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTA CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGT TGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTG GGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGC CCACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCAC AGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGT CACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCC CGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTG AGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTG GTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTG GTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGG TTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCC ACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGC CGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGG TGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGC TGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCA CAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCG TCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAG TACCCATCACAGGGCTGGAGGTGTGGCTGGCCCACTGGGTTGTTGGTGGT CCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTT GGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGG GTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCAC TGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCG GCCCACTGGGTTGGTGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3828		chr21	TogoVar
PRR20G_chr3_127278783_127293046	127289915	T T	TATACATA others(2020): Show TATACATATTTATATATTTTATATATAGTTATATAACTATATATTTTATA TATAGTTATATAACTATATATTTTATATATAGTTATATAACTATATATTT TATATATATAGTTTATATATAGTTATATAACTATATATAAAATATATAGT TATATATATATTTTATATATAGTTATATATATATTTTATATATAGTTATA TATATATTTTATATATAGTTATATAAATATATATTTTATATATAGTTATA TAAATATATATTTTATATATAGTTATATAAATATATATTTTATATATAGT TATATAAATATATATTTTATATATAGTTATATAAAATATATTTTATATAG TTATATAAAATATATTTTATATAGTTATATTCATATATATTTTATATAGT TATATTCATATATATTTTATATATATTCATATATATTTTATATATATTTA TATACTATATATTTTATATATAGTATATAAATATATATTTATATATAGTT ATATAAATATATATTTATATATAGTTATATAAATATATATTTTATATTTA TATATTTTAATATATTATATATTTATATATATTTTAATATATTATATATT TATATATAATATATTTTAATATATTATACATTTATATAAAATATATTTCA ATATATTATACATTTATATAAAATATATTTCAATATATTATACATTTATA TAAAATATATTTCAATATATTATATATTTATATAAAATATATTTCAATAT ATTATATATTTATGTAAAATATATTTCAATATATTATATATTTATGTATA TTTTAATATATTATATATTTATGTATATTTTAATATATTATATATTTATG TATATTTTAATATATTATATATTTATGTATATTTTAATATATTATATATT TATGTATATTTTAATATATTATATATTTATGTATATTTTAATATATTATA TATTTATGTATATTTTAATATATTATATATTTATGTATATTTTAATATAT TATATATTTATGTATAATATATTTTAATATATTATATATTTATGTATATT TTAATATATTATATATTTATGTATATTTTAATATATTATATATTTATGTA TATTTTAATATATTATATATTTATGTATATTTTAATATATTATATATTTA TGTATAATATATTTTAATATATTATATATTTATGTATATTTTAATATATT ATATATTTATGTATAATATATTTTAATATATTATATATTTATGTATAATA TATTTTAATATATTATATATTTATGTATTATATATTTTAATATATTATAT ATTTATGTATTATATATTTTAATATATTATATATTTATGTATTATATATT TTAATATGTTATATATTTATGTATTATATATTAATATATTATATATTTAT GTATTATATATTTTAATATATTATATATTTATGTATTATATTTAAGATAT TATATATTTATGTATTATATATTTAAGATATTATATATTTATGTATTATA TATTTAATATATTATATATTTATGTATTATATATTTTAATATATTTATGT ATTATATATTTTAATATATTATATATTGTATATATTATATATTTTAATAT ATTATATATTGTATATATTATATATATTTATATATTACATTACTTATACA CTATATATATATGTGTGTGTGTATATATATATACACACACACATATATAT AGTGTATAAGTAATGTAATTCCAGTTAGGCTCTCAATTTGTTTGTTGTTG TTGCTTTTGTTTTTAAAAAAATCAACTTCATTGAGGTACAATTTACACAC AGTAAAATGCATCCATTTGAAGTACCCAATTTGATGAGTTTTGATAAACT TGTAGACTTGGGTAACCACTCCCACAGTTAAAATACAGAATAATTTCATC ACTGGGCCAGCTCCCTTGCGTCCTTTAGCAGTCAGCCCCCTTCCCCTATC CTCTGCCCCAGCAACCACTGATCTGCTTTTTATCTCTACAGATTATTTTT GCTTGTTCTAGGATTTCACATAAATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA19090.hp1 NA18947.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	2	9	0.2222	2027	c.-20 others(2038): Show c.-2045_-2044insTCCATTTATGTGAAATCCTAGAACAAGCAAAAAT AATCTGTAGAGATAAAAAGCAGATCAGTGGTTGCTGGGGCAGAGGATAGG GGAAGGGGGCTGACTGCTAAAGGACGCAAGGGAGCTGGCCCAGTGATGAA ATTATTCTGTATTTTAACTGTGGGAGTGGTTACCCAAGTCTACAAGTTTA TCAAAACTCATCAAATTGGGTACTTCAAATGGATGCATTTTACTGTGTGT AAATTGTACCTCAATGAAGTTGATTTTTTTAAAAACAAAAGCAACAACAA CAAACAAATTGAGAGCCTAACTGGAATTACATTACTTATACACTATATAT ATGTGTGTGTGTATATATATATACACACACACATATATATATAGTGTATA AGTAATGTAATATATAAATATATATAATATATACAATATATAATATATTA AAATATATAATATATACAATATATAATATATTAAAATATATAATACATAA ATATATTAAAATATATAATACATAAATATATAATATATTAAATATATAAT ACATAAATATATAATATCTTAAATATATAATACATAAATATATAATATCT TAAATATAATACATAAATATATAATATATTAAAATATATAATACATAAAT ATATAATATATTAATATATAATACATAAATATATAACATATTAAAATATA TAATACATAAATATATAATATATTAAAATATATAATACATAAATATATAA TATATTAAAATATATAATACATAAATATATAATATATTAAAATATATTAT ACATAAATATATAATATATTAAAATATATTATACATAAATATATAATATA TTAAAATATACATAAATATATAATATATTAAAATATATTATACATAAATA TATAATATATTAAAATATACATAAATATATAATATATTAAAATATACATA AATATATAATATATTAAAATATACATAAATATATAATATATTAAAATATA CATAAATATATAATATATTAAAATATATTATACATAAATATATAATATAT TAAAATATACATAAATATATAATATATTAAAATATACATAAATATATAAT ATATTAAAATATACATAAATATATAATATATTAAAATATACATAAATATA TAATATATTAAAATATACATAAATATATAATATATTAAAATATACATAAA TATATAATATATTAAAATATACATAAATATATAATATATTAAAATATACA TAAATATATAATATATTGAAATATATTTTACATAAATATATAATATATTG AAATATATTTTATATAAATATATAATATATTGAAATATATTTTATATAAA TGTATAATATATTGAAATATATTTTATATAAATGTATAATATATTGAAAT ATATTTTATATAAATGTATAATATATTAAAATATATTATATATAAATATA TAATATATTAAAATATATATAAATATATAATATATTAAAATATATAAATA TAAAATATATATTTATATAACTATATATAAATATATATTTATATAACTAT ATATAAATATATATTTATATACTATATATAAAATATATAGTATATAAATA TATATAAAATATATATGAATATATATAAAATATATATGAATATAACTATA TAAAATATATATGAATATAACTATATAAAATATATTTTATATAACTATAT AAAATATATTTTATATAACTATATATAAAATATATATTTATATAACTATA TATAAAATATATATTTATATAACTATATATAAAATATATATTTATATAAC TATATATAAAATATATATTTATATAACTATATATAAAATATATATATAAC TATATATAAAATATATATATAACTATATATAAAATATATATATAACTATA TATTTTATATATAGTTATATAACTATATATAAACTATATATATAAAATAT ATAGTTATATAACTATATATAAAATATATAGTTATATAACTATATATAAA ATATATAGTTATATAACTATATATAAAATATATAAATATGTAT	PRR20G	ENSG00000239620.3	transcript	ENST00000465482.3	protein_coding		1870		chr3	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(2020): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATAT TATTATAAAATAAATTATCTTTATATTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTTTATTATTATAAAATAAATTATCTTTTTATTATTAT AAAATAAATTATCTTTTTATTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTATTATAAAATAAATTATCTTTA TTTTATTATTATAATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0029 a0029	a0029c0045 a0029c0045	a0029c0045t0001 a0029c0045t0001	a0029c0045t0001g0332 a0029c0045t0001g0332	1	126	0.0079	2027	c.45- others(2042): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATATTATTATAAAATAAATTATCTTTATATTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTTTATTATTATAAAATAAATTATC TTTTTATTATTATAAAATAAATTATCTTTTTATTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAATAAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SPATC1L_chr21_46156160_46189459	46184617	C C	CCAACCCA others(2020): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCC TGTGATGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGATGGGCACCCACCACCACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACC AACAACCCAGTGGGCCAGCCACACCTCCAGCCCTGTGATGGGTACTCAGG ACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCA CCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGG GTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTG TGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCC CTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCA GCCCTGTGATGGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACA CCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCG GCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGT GGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAA CCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCAC CAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGAC CACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACC CACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGC ACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATG GGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCT GTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGC CCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACC TCCAGCCCTGTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGC CACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGG GCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACC CAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCA CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCA GGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGATGGGTACTCAGGACCACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0034 a0001c0001t0011g0034	1	238	0.0042	2027	c.-12 others(2038): Show c.-1221_-1220insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTA CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGT TGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTG GGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGC CCACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCAC AGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGT CACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCC CGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTG AGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTG GTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTG GTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGG TTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCC ACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGC CGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGG TGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGC TGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCA CAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCG TCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAG TACCCATCACAGGGCTGGAGGTGTGGCTGGCCCACTGGGTTGTTGGTGGT CCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTT GGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGG GTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCAC TGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCG GCCCACTGGGTTGGTGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		159		chr21	TogoVar

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