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
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(793): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAAA CATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTA TTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTAT ACCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACA GAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAA TGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGT TTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCAT GAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTCA GAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATA TATATATATATATATATATATATATATATATATATGTCTATTTCCTGAGA ATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAATTTTCC ATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTTTTATTAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02976.hp2 HG03041.hp1 others(2): Show HG01074.hp1 HG02976.hp2 HG03041.hp1 HG03225.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0169 others(2): Show a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0002t0002g0050	5	274	0.0182	800	c.-51 others(811): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA GAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATA AGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTT GCTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCTT TTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGA ACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGT CAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAA TGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAG TGGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTAT ATATATATATATATATATATATATATATATATATATATATATATATATAT GTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGT GAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATA AATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(793): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAAA CATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTA TTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTAT ACCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACA GAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAA TGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGT TTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCAT GAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTCA GAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATA TATATATATATATATATATATATATATATATATATGTCTATTTCCTGAGA ATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAATTTTCC ATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTTTTATTAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	270	0.0037	800	c.-51 others(811): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCATGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA GAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATA AGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTT GCTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCTT TTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGA ACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGT CAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAA TGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAG TGGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTAT ATATATATATATATATATATATATATATATATATATATATATATATATAT GTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGT GAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATA AATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATAAA others(793): Show TATATAAATATATAAATAAAAATATATAAAAATATATACATATATAAATA TAAATATATAATATATAAATATATAAATATATAAATATATAAATATAAAT ATATAAAAATATATAAATATATAAATATATATAAATATATATAAATATAT AAATATATAAATATATATAAATATATAAATATATAAATATATAAAAATAT ATAAATACATAAATATATAAATATATAAATATATAAATATATAAATATAT ATAAGTACATATAAATATATATACATAAATATATAAATATATAAATATAT AAATATATAAATACATAATATATATAAATATAAAATATATATAATATATA AAATATATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAA AAATATATAAAAAATATATACACATATAAATATATATAAAAATATATAAA TATATATAAAAATATATAAATATATATTATATATAAATATATAATATATA AATATATATAAATATATAAATATATATAAATATATACAATATATAAATAT ATATAAATATATACAATATATAAATATATATATACAATATATAAATATAT ATAAATATATACAATATATAAATATATATAAATATATACAATATATAAAT ATATATAAATATATACAATATATAAATATATATAAATATATACAATATAT AAATATATATAAATATATATAATATATAAATATATATAAATATATAAATA TATATAAATATATATAATATATAAAAATATAAAAATATATAAATATATAT A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp1 NA19043.hp1 HG02976.hp1 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0001 a0001c0001t0001g0030	3	14	0.2143	800	c.617 others(817): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATTTT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATTTATATATATTTATATATTGTATATATATAT TTATATATTGTATATATTTATATATATTTATATATTGTATATATTTATAT ATATTTATATATTTATATATATTTATATATTATATATTTATATATAATAT ATATTTATATATTTTTATATATATTTATATATTTTTATATATATTTATAT GTGTATATATTTTTTATATATTTTTATATATTTATATATTTTTTATATAT ATTTTTATATTTTTAATATATTTTATATATTATATATATTTTATATTTAT ATATATTATGTATTTATATATTTATATATTTATATATTTATATATTTATG TATATATATTTATATGTACTTATATATATTTATATATTTATATATTTATA TATTTATATATTTATGTATTTATATATTTTTATATATTTATATATTTATA TATTTATATATATTTATATATTTATATATTTATATATATTTATATATATT TATATATTTATATATTTTTATATATTTATATTTATATATTTATATATTTA TATATTTATATATTATATATTTATATTTATATATGTATATATTTTTATAT ATTTTTATTTATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GALP_chr19_56171008_56190775	56176046	C C	CTGCCAGC others(793): Show CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACGGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18956.hp1 NA19087.hp1 NA18940.hp1 NA18956.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0012 a0002c0003t0012 a0001c0002t0012 a0002c0003t0012	a0001c0002t0012g0138 a0001c0002t0012g0156 a0002c0003t0012g0031 a0001c0002t0012g0138 a0001c0002t0012g0156 a0002c0003t0012g0031	3	410	0.0073	800	c.-40 others(813): Show c.-40+33_-40+34insCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGTCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGTCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATCCCAGCTGCACGGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GMDS_chr6_1618806_2250605	2201390	A A	AAACCATC others(793): Show AAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGA AGAGAGAGCACCACATGCACATCTGAGATGAAACCATCTAGGCAGTGAGG GCAGCATGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGGGC ATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGG TGAAGGATGAAGACAGAGCACCACATGGGCATCCGAGATGTAACCATCTA GGCAGTGAGGACAGCATGTTAGCAGAGAGGCGAAGGATGAAGAGAGAGCA CCACATGGGCATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTT AGCAGGGAGGTGAAGGATGAAGAGAGAGCACCACATGGACATCCGAGATG AAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGA AGAGAGAGCACCACATGGGCATCCGAGATGAAACCATCTAGGCAGTGAGG GCAGCGCGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGCAC ATCCGAGATGTAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGG TGAAGGATGAAGAGAGAGCACCACATGGACATCCGAGATGTAACCATCTA GGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCA CCACATGCACATCTGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTT AGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGGACATCCGAGATG T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG03540.hp1 HG02258.hp1 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0038 a0001c0001t0002g0130 a0001c0002t0002g0045 a0001c0001t0002g0038 a0001c0001t0002g0130 a0001c0002t0002g0045	3	157	0.0191	800	c.102 others(819): Show c.102+43930_102+43931insACATCTCGGATGTCCATGTGGTGCTC TCTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTAGAT GGTTTCATCTCAGATGTGCATGTGGTGCTCTCTCTTCATCCTTCACCTCT CTGCTAACATGCTGCCCTCACTGCCTAGATGGTTACATCTCGGATGTCCA TGTGGTGCTCTCTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCA CTGCCTAGATGGTTACATCTCGGATGTGCATGTGGTGCTCTCTCTTCATC CTTCACCTCTCTGCTAACGCGCTGCCCTCACTGCCTAGATGGTTTCATCT CGGATGCCCATGTGGTGCTCTCTCTTCATCCTTCACCTCTCTGCTAACAT GCTGCCCTCACTGCCTAGATGGTTTCATCTCGGATGTCCATGTGGTGCTC TCTCTTCATCCTTCACCTCCCTGCTAACATGCTGCCCTCACTGCCTAGAT GGTTTCATCTCGGATGCCCATGTGGTGCTCTCTCTTCATCCTTCGCCTCT CTGCTAACATGCTGTCCTCACTGCCTAGATGGTTACATCTCGGATGCCCA TGTGGTGCTCTGTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCA CTGCCTAGATGGTTTCATCTCGGATGCCCATGTGGTGCTCTCTCTTCATC CTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTAGATGGTTTCATCT CAGATGTGCATGTGGTGCTCTCTCTTCATCCTTCACCTCTCTGCTAACAT GCTGCCCTCACTGCCTAGATGGTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(793): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACGAGTCGCCCCTGAGATGGGCCACT CCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTG GGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGAC AGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAT GGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAG GTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGT G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0010 a0010	a0010c0031 a0010c0031	a0010c0031t0038 a0010c0031t0038	a0010c0031t0038g0029 a0010c0031t0038g0029	1	82	0.0122	800	c.341 others(815): Show c.3413-77_3413-76insGAGTCGCCCCTGAGATGGGCCACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAT GGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAG GTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGT GACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTG GGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGAC AGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGAC	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIK3_chr1_36790527_37039515	36793822	T T	TTGGGTGG others(793): Show TTGGGTGGATGGATGGATCGATGGATGGATGGATGGATGGATGGTTGGGT GGATGGATGGATTGGTGGATGGATGGATGGATGGATGGGTGGGTGGACGG ATGGATCGGTGGATGGATGAATGGGTGGATGGATGGATGGATGGGTGGAT GGATGGATGGGTGGATGGACGGATGGATGGATGGGTGGACAGATGGATGG GTGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGATGGGTGGAT GGGTGGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGG ATGGATGGGTGGGTGGATGAATGGGTGGTTGGATGGATGGATGGATGGAT GGGTGGATGGGTAGATGGATGGATGGGTGGGTGGATGGATGGCTGGGTGG ATGGGTGGATGGATGGATGGGTGGGTGGATGGATGGCTGGGTGGATGGAT GGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAATGG GTGGATGGATGGATGGATGGATGGATGGGTGGATGGGTGGATGGATGGAT GGGTGGGTGGATGGATGGATGGGTTGGTGGATGGATGGATGTATGGGTGG ATGTATGTATGTATGTATGTATGGGTGGGTGGATGGATAGATGGATGGAT GGATGGGCGGATGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGATGG ATGAATGGGTGGATGGGTGGATGGATGGATGGGTGGGTGGATGGATGGGT GGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGGGTGGATGGATGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0108 a0001c0002t0015g0108	1	54	0.0185	800	c.80 others(811): Show c.8028_*8029insTCCATCCATCCACCCACCCACCCATCCATCCATC CACCCATCCATCCATCCACCCATCCATCCACCCACCCATCCATCCATCCA CCCATCCACCCATTCATCCATCCACCCATCCATCCACCCACCCACCCATC CATCCATCCGCCCATCCATCCATCCATCTATCCATCCACCCACCCATACA TACATACATACATACATCCACCCATACATCCATCCATCCACCAACCCATC CATCCATCCACCCACCCATCCATCCATCCACCCATCCACCCATCCATCCA TCCATCCATCCATCCACCCATTCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCCATCCATCCACCCAGCCATCCATCCACCCACCCA TCCATCCATCCACCCATCCACCCAGCCATCCATCCACCCACCCATCCATC CATCTACCCATCCACCCATCCATCCATCCATCCATCCAACCACCCATTCA TCCACCCACCCATCCATCCATCCATCCACCCATCCATCCATCCACCCATC CATCCATCCATCCACCCATCCACCCATCCATCCATCCATCCATCCACCCA TCCATCCATCCACCCACCCATCCATCTGTCCACCCATCCATCCATCCGTC CATCCACCCATCCATCCATCCACCCATCCATCCATCCATCCACCCATTCA TCCATCCACCGATCCATCCGTCCACCCACCCATCCATCCATCCATCCATC CACCAATCCATCCATCCACCCAACCATCCATCCATCCATCCATCCATCGA TCCATCCATCCACCCA	GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding		1704		chr1	TogoVar
HCN2_chr19_584881_622159	602382	C C	CCCTCCTC others(793): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCAC TCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0004 a0004c0029t0004	a0004c0029t0004g0104 a0004c0029t0004g0104	1	371	0.0027	800	c.633 others(817): Show c.633-1092_633-1091insCTCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCT CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCAC TTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33322309	A A	ATATATGC others(793): Show ATATATGCAATATATATATATGGAATATATATATGCAGTATATATATATG AATATATATATGGAATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATATGTGGAATATATATATGGAATATATATATATGTG GAATATATATATGGAATATATATATGGAATATATACATGGAATATATGTA TATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATA TGTGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACAT GGAATATATATATGGAATATATACATGGAATATATATATGGAATATATAC ATGGAATATATATATATGGAATATATACATGGAATATATATATATGGAAT ATATACATGGAATATATATATATGGAATATATACATGGAATATATATATG GAATATATACATGGAATATATATATATGGAATATATACATGGAATATATA CATGGAATATATACATGGAACATATACATGGAATATATACATGGAACATA TACATGGAATATATATATATGGAACATATACGGAATATATATATGGAATA TATATACGGAATATATATATATGGAATATATATACGGAATATATATATGG AATATATATACGGAATATATATATATGGAATATATATACGGAATATATAT ATATGGAATATATATACGGAATATATATATGGAATATATATACGGAATAT G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0205 a0002c0002t0002g0205	1	305	0.0033	800	c.-27 others(811): Show c.-2747_-2746insTATATGCAATATATATATATGGAATATATATATG CAGTATATATATATGAATATATATATGGAATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATATATGTGGAATATATATATGGA ATATATATATATGTGGAATATATATATGGAATATATATATGGAATATATA CATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAA TATATACATGGAATATGTGTATATGGAATATATACATGGAATATGTGTAT ATGGAATATATACATGGAATATATATATGGAATATATACATGGAATATAT ATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAAT ATATATATATGGAATATATACATGGAATATATATATATGGAATATATACA TGGAATATATATATGGAATATATACATGGAATATATATATATGGAATATA TACATGGAATATATACATGGAATATATACATGGAACATATACATGGAATA TATACATGGAACATATACATGGAATATATATATATGGAACATATACGGAA TATATATATGGAATATATATACGGAATATATATATATGGAATATATATAC GGAATATATATATGGAATATATATACGGAATATATATATATGGAATATAT ATACGGAATATATATATATGGAATATATATACGGAATATATATATGGAAT ATATATACGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2660		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322329	T T	TGGAATAT others(793): Show TGGAATATATATATGCAGTATATATATATGAATATATATATGGAATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATATGTGGA ATATATATATGGAATATATATATATGTGGAATATATATATGGAATATATA TATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATA TATGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACAT GGAATATGTGTATATGGAATATATACATGGAATATATATATGGAATATAT ACATGGAATATATATATGGAATATATACATGGAATATATATATATGGAAT ATATACATGGAATATATATATATGGAATATATACATGGAATATATATATA TGGAATATATACATGGAATATATATATATAGAATATATACATGGAATATA TATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAA TATATATATATGGAATATATACAAGGAACATATACATGGAATATATACAT GGAACATATACATGGAATATATACATGGAACATATACATGGAATATATAT ATATGGAACATATACGGAATATATATATGGAATATATATACGGAATATAT ATATATGGAATATATATACGGAATATATATATGGAATATATATACGGAAT ATATATATATGGAATATATATACGGAATATATATATATGGAATATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA19083.hp1 NA18967.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0168 a0002c0002t0002g0009 a0002c0002t0002g0168	2	315	0.0063	800	c.-27 others(811): Show c.-2727_-2726insGGAATATATATATGCAGTATATATATATGAATAT ATATATGGAATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATATGTGGAATATATATATGGAATATATATATATGTGGAATATA TATATGGAATATATATATGGAATATATACATGGAATATATGTATATGGAA TATATACATGGAATATATGTATATGGAATATATACATGGAATATGTGTAT ATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATAT ATATATGGAATATATACATGGAATATATATATGGAATATATACATGGAAT ATATATATATGGAATATATACATGGAATATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATATAGAATA TATACATGGAATATATATATGGAATATATACATGGAATATATATATATGG AATATATACATGGAATATATATATATGGAATATATACAAGGAACATATAC ATGGAATATATACATGGAACATATACATGGAATATATACATGGAACATAT ACATGGAATATATATATATGGAACATATACGGAATATATATATGGAATAT ATATACGGAATATATATATATGGAATATATATACGGAATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TATGGAATATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2640		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322337	A A	ATATATGC others(793): Show ATATATGCAGTATATATATATGAATATATATATGGAATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATATGTGGAATATATAT ATGGAATATATATATATGTGGAATATATATATGGAATATATATATGGAAT ATATACATGGAATATATGTATATGGAATATATACATGGAATATATGTATA TGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATATG TGTATATGGAATATATACATGGAATATATATATGGAATATATACATGGAA TATATATATGGAATATATACATGGAATATATATATATGGAATATATACAT GGAATATATATATATGGAATATATACATGGAATATATATATATGGAATAT ATACATGGAATATATATATATAGAATATATACATGGAATATATATATGGA ATATATACATGGAATATATATATATGGAATATATACATGGAATATATATA TATGGAATATATACAAGGAACATATACATGGAATATATACATGGAACATA TACATGGAATATATACATGGAACATATACATGGAATATATATATATGGAA CATATACGGAATATATATATGGAATATATATACGGAATATATATATATGG AATATATATACGGAATATATATATGGAATATATATACGGAATATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATAT G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	300	0.0033	800	c.-27 others(811): Show c.-2719_-2718insTATATGCAGTATATATATATGAATATATATATGG AATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT ATGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGGA ATATATATATGGAATATATACATGGAATATATGTATATGGAATATATACA TGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATA TATACATGGAATATGTGTATATGGAATATATACATGGAATATATATATGG AATATATACATGGAATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATAT ATATATATGGAATATATACATGGAATATATATATATAGAATATATACATG GAATATATATATGGAATATATACATGGAATATATATATATGGAATATATA CATGGAATATATATATATGGAATATATACAAGGAACATATACATGGAATA TATACATGGAACATATACATGGAATATATACATGGAACATATACATGGAA TATATATATATGGAACATATACGGAATATATATATGGAATATATATACGG AATATATATATATGGAATATATATACGGAATATATATATGGAATATATAT ACGGAATATATATATATGGAATATATATACGGAATATATATATATGGAAT ATATATACGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2632		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(793): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATGGAATGTGTATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATG G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	62	0.0161	800	c.-21 others(811): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323342	G G	GAATATAT others(793): Show GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAC ATGGAATATATATATGGAATATATATACATGGAATATATATATGGAATAT ATATACATGGAATATATATATGGAATATATATACATGGAATATATATATG GAATATATATACATGGAATATATATATGGAATATATATACATGGAATATA TATATATGGAATATATATACATGGAATATATATATATGGAATATATATAC ATGGAATATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATATGGAATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGTATATATGGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	166	0.0060	800	c.-17 others(811): Show c.-1714_-1713insAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATACATGGAATATATATATGGAATATATATACATGGAAT ATATATATGGAATATATATACATGGAATATATATATGGAATATATATACA TGGAATATATATATGGAATATATATACATGGAATATATATATGGAATATA TATACATGGAATATATATATATGGAATATATATACATGGAATATATATAT ATGGAATATATATACATGGAATATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATATGGAATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATGGAATA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGTATATATGGAA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1627		chr21	TogoVar
IQSEC3_chr12_61767_183455	163304	C C	CCCTCCCT others(793): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCT CCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAC CCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCT CCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCC CCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0032 a0001c0024t0001g0032	1	113	0.0088	800	c.258 others(817): Show c.2584-170_2584-169insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCC TCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGA CCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGA ACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCC CCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCG GAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTC CACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CTCCTCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(793): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC ACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCAC AGCCACCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGC T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	5	0.2000	800	c.-41 others(815): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCACCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCG CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAG CTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(793): Show CGCCCCCACAGCCGCCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGC T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	5	0.2000	800	c.-41 others(815): Show c.-41+629_-41+630insCCCCACAGCTGCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCC CCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACC TCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCC ACCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAG CTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(793): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAAGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAAGG GGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAGGA GGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGGG AGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAG GAGGAGAGAAGAGGGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAG GAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGG AGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGG AGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGG AGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAG GAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAG AAGGGAGAAAGGAGGAGGGAAGGAGGAGGAAGAAAGGAGGGGAGGAGGAG AGGAAAGAGGAGGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0103 a0001c0004t0016g0103	1	5	0.2000	800	c.-46 others(811): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCCTCCTCTTTCCTCTCCTCCTCCCCTCCTTTCTTCCTCCTCCTTCC CTCCTCCTTTCTCCCTTCTCCTCCCCTCTTCCTTTCTCCCTCCTCCTCCC CTCTTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCC GGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCT CCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCT TCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTC CCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTC CCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCC TCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTC CTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTC CTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCC CCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCTTCCTCTTTTCT CCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(793): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCTCTCCCTCTCCCTCTCCCTCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCTCTCC TCCTCTCCCCTCTCCCCTCCCTCTCCTTCTCCCTCCTCTCCCTCTCCCCC TCCTCTCCCTCTCTTCTCCCTCCTCTCCCTCTCCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCCTCTCCCTCCTCTCCCTCTCCCTCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCACTCTCCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	4	0.2500	800	c.-27 others(811): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGAGGGAGAGG GAGAGGAGGGAGAGGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGGAGAGGGAGAGGAGGG AGAAGAGAGGGAGAGGAGGGGGAGAGGGAGAGGAGGGAGAAGGAGAGGGA GGGGAGAGGGGAGAGGAGGAGAGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGAGGGAGAGGGA GAGGGAGAGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACGCTT others(793): Show CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACTCACACCCACCCACACTCAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTC ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACATGC TTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAATT ACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TCACACCCACCCACACTCACACCCACCCACACTTACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTTACACTCATGCTTAC ATCTACCTCCACGCCCACACTCACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0253 a0001c0002t0004g0253	1	215	0.0047	800	c.129 others(817): Show c.1290-944_1290-943insGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACTC ACACCCACCCACACTCACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTCACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCACACTTACACATGCTTACATCTACCTCCACACCCACACTCACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACAATTACACCCACACTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACAC TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTTACACTCATGCTTACATCTACCTCCACGCCCACACTCACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(793): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCTGTGCCTCACATGGGCTC CTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGT GCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCT CACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGTGCCTCACATG GGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCC CCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCACGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCG AGTGTGCTCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCC T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0052 a0052	a0052c0112 a0052c0112	a0052c0112t0041 a0052c0112t0041	a0052c0112t0041g0248 a0052c0112t0041g0248	1	32	0.0313	800	c.218 others(815): Show c.2189-97_2189-96insAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGCACGGGGAGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGG GCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCC AGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGG CACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGG AGGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGG GGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCA CACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGC CCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGT GCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACAGGGGGCACACT CGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MPG_chr16_73225_90846	81717	G G	GGGAAGGC others(793): Show GGGAAGGCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCC TATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCC ACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCT GACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCC CCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGA ATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGC CTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCG GGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCT ACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCA CCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTG ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCC CCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTG AATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGG CCTCCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTATCTCC A	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	416	0.0024	800	c.301 others(817): Show c.301-1310_301-1309insGCTGACCCCTTCTTCCCACCACCCTATC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACC CCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGC GCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGC TCCCCACGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAA GGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCAC CCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTC CCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCCCCGG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTATCTCCAGGA AGGCCTCCTGAATGCTCCCCAC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81914	G G	GCTGGCCC others(793): Show GCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGC TCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAA GGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCAC CCTACCTCCAGGAAGCCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTC CCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCG CTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCT CCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCT GAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAG CCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACC CCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCAC A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	392	0.0026	800	c.301 others(817): Show c.301-1135_301-1134insGCCCCTTCTTCCCACCACCCTACCTCCG GGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCT ACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCA CCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTT CTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTG GCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCC GGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCAGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCC CTCCTGAATGCTCCCCACACTG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(793): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	242	0.0041	800	c.47 others(811): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGA CCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(793): Show TGTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCACCCTCCCCTCTCC CCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCTCC CCCTCCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTC C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0048 a0003c0004t0048	a0003c0004t0048g0209 a0003c0004t0048g0209	1	206	0.0049	800	c.433 others(817): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGGAG GGGAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAGGGGAGAGGGGAGGGTGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	810309	G G	GTGGCGTG others(793): Show GTGGCGTGCACGTTACGAATCTGTGGGTGGCGTGCACGTTACGAGTCCGT GTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGT CCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGAATGGCGTGCACGTTAC GAGTCTGTGAGTGGCGTGCACATTACGAGTCTGTGAGTGGCATGCACGTT ACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTA CGTTACAAGTCTGTGAATGGCGTGCACGTTACGAGTCTGTGAGTGGCGTG CACATTACGAGTCTGTGAGTGGCGTGCACGTTACCAGTCCGTGTGAGTGG TGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTGAGTCCGTGT GAGTGGTGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCT GTGAGTGGCGTGCACGTTGAGTCCGTGTGAGTGGTGTGCACGTTACGAGT CCGTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTAC GAGTCTGTGGGTGGTGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACG TTACAAGTCTGTGAGTGGTGTGCACGTTACGAGTCTGTGACTGGTGTGCA CGTTACGAGTGCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGG CGTGCACGTTACGAGTCCGTGTGAGTGGTGTGCATGTTACGAGTCTGTGA C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	174	0.0057	800	c.821 others(817): Show c.821-5063_821-5062insGTCACAGACTCGTAACATGCACACCACT CACACGGACTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCAC GCCACTCACACGCACTCGTAACGTGCACACCAGTCACAGACTCGTAACGT GCACACCACTCACAGACTTGTAACGTGCACGCCACTCACACGGACTCGTA ACGTGCACACCACCCACAGACTCGTAACGTGCACGCCACTCACAGACTCG TAACGTGCACGCCACTCACACGGACTCGTAACGTGCACACCACTCACACG GACTCAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACA GACTCGTAACGTGCACACCACTCACACGGACTCAACGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCACTCACAGACTTGTAACGTACACACCACT CACACGGACTCGTAACGTGCACACCACTCACACGGACTGGTAACGTGCAC GCCACTCACAGACTCGTAATGTGCACGCCACTCACAGACTCGTAACGTGC ACGCCATTCACAGACTTGTAACGTACACACCACTCACACGGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCATGCCACTCACAGACTCGTA ATGTGCACGCCACTCACAGACTCGTAACGTGCACGCCATTCACAGACTTG TAACGTACACACCACTCACACGGACTCGTAACGTGCACGCCACTCACAGA CTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCACGCCACCCA CAGATTCGTAACGTGCACGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	810309	G G	GTGGCGTG others(793): Show GTGGCGTGCACGTTACGAATCTGTGGGTGGCGTGCACGTTACGAGTCCGT GTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGT CCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGAATGGCGTGCACGTTAC GAGTCTGTGAGTGGCGTGCACATTACGAGTCTGTGAGTGGCGTGCACGTT ACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTA CGTTACAAGTCTGTGAATGGCGTGCACGTTACGAGTCTGTGAGTGGCGTG CACATTACGAGTCTGTGAGTGGCGTGCACGTTACCAGTCCGTGTGAGTGG TGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTGAGTCCGTGT GAGTGGTGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCT GTGAGTGGCGTGCACGTTGAGTCCGTGTGAGTGGTGTGCACGTTACGAGT CCGTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTAC GAGTCTGTGGGTGGTGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACG TTACAAGTCTGTGAGTGGTGTGCACGTTACGAGTCTGTGACTGGTGTGCA CGTTACGAGTGCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGG CGTGCACGTTACGAGTCCGTGTGAGTGGTGTGCATGTTACGAGTCTGTGA C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00639.hp1 others(43): Show HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01358.hp1 HG01928.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02738.hp1 HG03098.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA18747.hp2 NA18948.hp2 NA18970.hp2 NA18973.hp1 NA18980.hp1 NA18984.hp1 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19012.hp2 NA19066.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0028 a0001c0009t0006	a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0028 others(43): Show a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0195 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0093 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0003g0020 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0078 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0127 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0193 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0004g0224 a0001c0001t0005g0031 a0001c0001t0005g0059 a0001c0001t0006g0123 a0001c0001t0006g0144 a0001c0001t0006g0155 a0001c0001t0006g0168 a0001c0001t0006g0183 a0001c0001t0015g0239 a0001c0001t0015g0240 a0001c0001t0028g0091 a0001c0009t0006g0159	46	219	0.2100	800	c.821 others(817): Show c.821-5063_821-5062insGTCACAGACTCGTAACATGCACACCACT CACACGGACTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCAC GCCACTCACACGCACTCGTAACGTGCACACCAGTCACAGACTCGTAACGT GCACACCACTCACAGACTTGTAACGTGCACGCCACTCACACGGACTCGTA ACGTGCACACCACCCACAGACTCGTAACGTGCACGCCACTCACAGACTCG TAACGTGCACGCCACTCACACGGACTCGTAACGTGCACACCACTCACACG GACTCAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACA GACTCGTAACGTGCACACCACTCACACGGACTCAACGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCACTCACAGACTTGTAACGTACACACCACT CACACGGACTCGTAACGTGCACACCACTCACACGGACTGGTAACGTGCAC GCCACTCACAGACTCGTAATGTGCACGCCACTCACAGACTCGTAACGTGC ACGCCATTCACAGACTTGTAACGTACACACCACTCACACGGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACAGACTCGTA ATGTGCACGCCACTCACAGACTCGTAACGTGCACGCCATTCACAGACTTG TAACGTACACACCACTCACACGGACTCGTAACGTGCACGCCACTCACAGA CTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCACGCCACCCA CAGATTCGTAACGTGCACGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	810309	G G	GTGGCGTG others(793): Show GTGGCGTGCACGTTACGAATCTGTGGGTGGCGTGCACGTTACGAGTCCGT GTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGT CCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGAATGGCGTGCACGTTAC GAGTCTGTGAGTGGCGTGCACATTACGAGTCTGTGAGTGGCGTGCACGTT ACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTA CGTTACAAGTCTGTGAATGGCGTGCACGTTACGAGTCTGTGAGTGGCGTG CACATTACGAGTCTGTGAGTGGCGTGCACGTTACCAGTCCGTGTGAGTGG TGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTGAGTCCGTGT GAGTGGTGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCT GTGAGTGGCGTGCACGTTGAGTCCGTGTGAGTGGTGTGCACGTTACGAGT CCGTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTAC GAGTCTGTGGGTGGTGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACG TTACGAGTCTGTGAGTGGTGTGCACGTTACGAGTCTGTGACTGGTGTGCA CGTTACGAGTGCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGG CGTGCACGTTACGAGTCCGTGTGAGTGGTGTGCATGTTACGAGTCTGTGA C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	174	0.0057	800	c.821 others(817): Show c.821-5063_821-5062insGTCACAGACTCGTAACATGCACACCACT CACACGGACTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCAC GCCACTCACACGCACTCGTAACGTGCACACCAGTCACAGACTCGTAACGT GCACACCACTCACAGACTCGTAACGTGCACGCCACTCACACGGACTCGTA ACGTGCACACCACCCACAGACTCGTAACGTGCACGCCACTCACAGACTCG TAACGTGCACGCCACTCACACGGACTCGTAACGTGCACACCACTCACACG GACTCAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACA GACTCGTAACGTGCACACCACTCACACGGACTCAACGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCACTCACAGACTTGTAACGTACACACCACT CACACGGACTCGTAACGTGCACACCACTCACACGGACTGGTAACGTGCAC GCCACTCACAGACTCGTAATGTGCACGCCACTCACAGACTCGTAACGTGC ACGCCATTCACAGACTTGTAACGTACACACCACTCACACGGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACAGACTCGTA ATGTGCACGCCACTCACAGACTCGTAACGTGCACGCCATTCACAGACTTG TAACGTACACACCACTCACACGGACTCGTAACGTGCACGCCACTCACAGA CTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCACGCCACCCA CAGATTCGTAACGTGCACGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	810309	G G	GTGGCGTG others(793): Show GTGGCGTGCACGTTACGAATCTGTGGGTGGCGTGCACGTTACGAGTCCGT GTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGT CCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGAATGGCGTGCACGTTAC GAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTT ACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTA CGTTACAAGTCTGTGAATGGCGTGCACGTTACGAGTCTGTGAGTGGCGTG CACATTACGAGTCTGTGAGTGGCGTGCACGTTACCAGTCCGTGTGAGTGG TGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTGAGTCCGTGT GAGTGGTGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCT GTGAGTGGCGTGCACGTTGAGTCCGTGTGAGTGGTGTGCACGTTACGAGT CCGTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTAC GAGTCTGTGGGTGGTGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACG TTACAAGTCTGTGAGTGGTGTGCACGTTACGAGTCTGTGACTGGTGTGCA CGTTACGAGTGCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGG CGTGCACGTTACGAGTCCGTGTGAGTGGTGTGCATGTTACGAGTCTGTGA C	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18951.hp2 NA18971.hp1 HG00733.hp2 NA18951.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0143 a0001c0001t0003g0151 a0001c0001t0003g0038 a0001c0001t0003g0143 a0001c0001t0003g0151	3	176	0.0170	800	c.821 others(817): Show c.821-5063_821-5062insGTCACAGACTCGTAACATGCACACCACT CACACGGACTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCAC GCCACTCACACGCACTCGTAACGTGCACACCAGTCACAGACTCGTAACGT GCACACCACTCACAGACTTGTAACGTGCACGCCACTCACACGGACTCGTA ACGTGCACACCACCCACAGACTCGTAACGTGCACGCCACTCACAGACTCG TAACGTGCACGCCACTCACACGGACTCGTAACGTGCACACCACTCACACG GACTCAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACA GACTCGTAACGTGCACACCACTCACACGGACTCAACGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCACTCACAGACTTGTAACGTACACACCACT CACACGGACTCGTAACGTGCACACCACTCACACGGACTGGTAACGTGCAC GCCACTCACAGACTCGTAATGTGCACGCCACTCACAGACTCGTAACGTGC ACGCCATTCACAGACTTGTAACGTACACACCACTCACACGGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACAGACTCGTA ACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCATTCACAGACTTG TAACGTACACACCACTCACACGGACTCGTAACGTGCACGCCACTCACAGA CTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCACGCCACCCA CAGATTCGTAACGTGCACGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	810309	G G	GTGGCGTG others(793): Show GTGGCGTGCACGTTACGAATCTGTGGGTGGCGTGCACGTTACGAGTCCGT GTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGT CCGTGTGAGTGGTGTGTACGTTACGAGTCTGTGAATGGCGTGCACGTTAC GAGTCTGTGAGTGGCGTGCACATTACGAGTCTGTGAGTGGCATGCACGTT ACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTA CGTTACAAGTCTGTGAATGGCGTGCACGTTACGAGTCTGTGAGTGGCGTG CACATTACGAGTCTGTGAGTGGCGTGCACGTTACCAGTCCGTGTGAGTGG TGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTGAGTCCGTGT GAGTGGTGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCT GTGAGTGGCGTGCACGTTGAGTCCGTGTGAGTGGTGTGCACGTTACGAGT CCGTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTAC GAGTCTGTGGGTGGTGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACG TTACAAGTCTGTGAGTGGTGTGCACGTTACGAGTCTGTGACTGGTGTGCA CGTTACGAGTGCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGG CGTGCACGTTACGAGTCCGTGTGAGTGGTGTGCATGTTACGAGTCTGTGA C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	174	0.0057	800	c.821 others(817): Show c.821-5063_821-5062insGTCACAGACTCGTAACATGCACACCACT CACACGGACTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCAC GCCACTCACACGCACTCGTAACGTGCACACCAGTCACAGACTCGTAACGT GCACACCACTCACAGACTTGTAACGTGCACGCCACTCACACGGACTCGTA ACGTGCACACCACCCACAGACTCGTAACGTGCACGCCACTCACAGACTCG TAACGTGCACGCCACTCACACGGACTCGTAACGTGCACACCACTCACACG GACTCAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACA GACTCGTAACGTGCACACCACTCACACGGACTCAACGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCACTCACAGACTTGTAACGTACACACCACT CACACGGACTCGTAACGTGCACACCACTCACACGGACTGGTAACGTGCAC GCCACTCACAGACTCGTAATGTGCACGCCACTCACAGACTCGTAACGTGC ACGCCATTCACAGACTTGTAACGTACACACCACTCACACGGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCATGCCACTCACAGACTCGTA ATGTGCACGCCACTCACAGACTCGTAACGTGCACGCCATTCACAGACTCG TAACGTACACACCACTCACACGGACTCGTAACGTGCACGCCACTCACAGA CTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCACGCCACCCA CAGATTCGTAACGTGCACGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	810309	G G	GTGGCGTG others(793): Show GTGGCGTGCACGTTACGAATCTGTGGGTGGCGTGCACGTTACGAGTCCGT GTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGT CCGTGTGAGTGGTGTGTACGTTACGAGTCTGTGAATGGCGTGCACGTTAC GAGTCTGTGAGTGGCGTGCACATTACGAGTCTGTGAGTGGCGTGCACGTT ACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTA CGTTACAAGTCTGTGAATGGCGTGCACGTTACGAGTCTGTGAGTGGCGTG CACATTACGAGTCTGTGAGTGGCGTGCACGTTACCAGTCCGTGTGAGTGG TGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTGAGTCCGTGT GAGTGGTGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCT GTGAGTGGCGTGCACGTTGAGTCCGTGTGAGTGGTGTGCACGTTACGAGT CCGTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTAC GAGTCTGTGGGTGGTGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACG TTACAAGTCTGTGAGTGGTGTGCACGTTACGAGTCTGTGACTGGTGTGCA CGTTACGAGTGCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGG CGTGCACGTTACGAGTCCGTGTGAGTGGTGTGCATGTTACGAGTCTGTGA C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	174	0.0057	800	c.821 others(817): Show c.821-5063_821-5062insGTCACAGACTCGTAACATGCACACCACT CACACGGACTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCAC GCCACTCACACGCACTCGTAACGTGCACACCAGTCACAGACTCGTAACGT GCACACCACTCACAGACTTGTAACGTGCACGCCACTCACACGGACTCGTA ACGTGCACACCACCCACAGACTCGTAACGTGCACGCCACTCACAGACTCG TAACGTGCACGCCACTCACACGGACTCGTAACGTGCACACCACTCACACG GACTCAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACA GACTCGTAACGTGCACACCACTCACACGGACTCAACGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCACTCACAGACTTGTAACGTACACACCACT CACACGGACTCGTAACGTGCACACCACTCACACGGACTGGTAACGTGCAC GCCACTCACAGACTCGTAATGTGCACGCCACTCACAGACTCGTAACGTGC ACGCCATTCACAGACTTGTAACGTACACACCACTCACACGGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACAGACTCGTA ATGTGCACGCCACTCACAGACTCGTAACGTGCACGCCATTCACAGACTCG TAACGTACACACCACTCACACGGACTCGTAACGTGCACGCCACTCACAGA CTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCACGCCACCCA CAGATTCGTAACGTGCACGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	810309	G G	GTGGCGTG others(793): Show GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAATCTGT GGGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACGTTACGAGT CTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGTGTGCACGTTAC AAGTCTGTGAATGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTT ACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTA CGTTACAAGTCTGTGAATGGCGTGCACGTTACGAGTCTGTGAGTGGCGTG CACATTACGAGTCTGTGAGTGGCGTGCACGTTACCAGTCCGTGTGAGTGG TGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTGAGTCCGTGT GAGTGGTGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCT GTGAGTGGCGTGCACGTTGAGTCCGTGTGAGTGGTGTGCACGTTACGAGT CCGTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTAC GAGTCTGTGGGTGGTGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACG TTACAAGTCTGTGAGTGGTGTGCACGTTACGAGTCTGTGACTGGTGTGCA CGTTACGAGTGCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGG CGTGCACGTTACGAGTCCGTGTGAGTGGTGTGCATGTTACGAGTCTGTGA C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	174	0.0057	800	c.821 others(817): Show c.821-5063_821-5062insGTCACAGACTCGTAACATGCACACCACT CACACGGACTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCAC GCCACTCACACGCACTCGTAACGTGCACACCAGTCACAGACTCGTAACGT GCACACCACTCACAGACTTGTAACGTGCACGCCACTCACACGGACTCGTA ACGTGCACACCACCCACAGACTCGTAACGTGCACGCCACTCACAGACTCG TAACGTGCACGCCACTCACACGGACTCGTAACGTGCACACCACTCACACG GACTCAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACA GACTCGTAACGTGCACACCACTCACACGGACTCAACGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCACTCACAGACTTGTAACGTACACACCACT CACACGGACTCGTAACGTGCACACCACTCACACGGACTGGTAACGTGCAC GCCACTCACAGACTCGTAATGTGCACGCCACTCACAGACTCGTAACGTGC ACGCCATTCACAGACTTGTAACGTACACACCACTCACACGGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACAGACTCGTA ACGTGCACGCCATTCACAGACTTGTAACGTGCACACCACTCACACGGACT CGTAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACACG GACTCGTAACGTGCACGCCACCCACAGATTCGTAACGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
PIAS4_chr19_4002736_4044386	4012047	G G	GGGTGTGG others(793): Show GGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGG GGTGTGGAGGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGT GTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTGGTG TGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGT GTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGG TGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTT T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0222 a0001c0005t0005g0222	1	279	0.0036	800	c.28- others(813): Show c.28-861_28-860insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTGG TGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGG GGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGA GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TTTGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIEZO1_chr16_88710338_88790220	88712963	G G	GCCCCCCT others(793): Show GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGACCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0014 a0014	a0014c0011 a0014c0011	a0014c0011t0024 a0014c0011t0024	a0014c0011t0024g0280 a0014c0011t0024g0280	1	120	0.0083	800	c.26 others(811): Show c.2641_*2642insGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGG GGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCA GGGGTATGAGTGGGGGTCAGGGTCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGG GGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGG GGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCA GGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAG GGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCT CTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGC ATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGG GGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGG GCCCGGGGAAGGGGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2374		chr16	TogoVar
PIP5K1C_chr19_3625183_3705468	3649163	A A	ATGCCCAC others(793): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0314 a0001c0002t0003g0314	1	250	0.0040	800	c.112 others(817): Show c.1128-456_1128-455insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAT others(793): Show AGGGGGATGTGGGAGATGAGGGGGACGCGGGGGACGAGGGGGGACGGGGG GGACGGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGCGGGGGAC GAGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGAGG GGGGACGGGGGGGACGGGGGGGGACGCGGGGGACGAGGGGGACGCGGGGG ACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCG GGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGA CGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGCGGGGGGGGGACGCG GGGGACGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGCGGGG GGGACGCGGGGGACGGGGGGGACGGGGGGGCGGGGGGGGGACGCGGGGGA CGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGG GGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGAC GCGGGGGGGACGCGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGCGGGG GGGGACGCGGGGGACGGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGG GACGGGGGGGACGCGGGGGACGGGGGGGGACGGGGGGGCGGGGGGGGACG CGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGG GACGCGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGAGGGGGGACG C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	82	0.0122	800	c.147 others(817): Show c.1474-959_1474-958insGCGTCCCCCCTCGTCCCCCGCGTCCCCC GCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTC CCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCCGCCCCCCCGTCCCCCC CCGTCCCCCGCGTCCCCCCCGTCCCCCCCCGTCCCCCCCGTCCCCCCCGT CCCCCCCCGTCCCCCGCGTCCCCCCCCGCCCCCCCGTCCCCCCCGTCCCC CCCGCCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCC GTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCC CCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCCCGCCCCCCC GTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTC CCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCCCGCCCCCCCGTCCC CCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCG TCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCC CCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCTCGTCCCCCGCGT CCCCCCCCGTCCCCCCCGTCCCCCCTCGTCCCCCGCGTCCCCCGCGTCCC CCGCGTCCCCCCCGTCCCCCCTCGTCCCCCGCGTCCCCCGCGTCCCCCGC GTCCCCCCCGTCCCCCCCCGTCCCCCCCGTCCCCCCTCGTCCCCCGCGTC CCCCTCATCTCCCACATCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PTDSS2_chr11_445279_496399	459194	C C	CGGACCTG others(793): Show CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGT A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	342	0.0029	800	c.183 others(815): Show c.183-931_183-930insTACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCTGG TGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRH_chr19_55176247_55214501	55207808	T T	TCCTGGGT others(793): Show TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGG GAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGG GGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGTCTGGATTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGC CTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGT TTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGG GGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCG ACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGA GGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTC CTGAGTCTGAGGGAGGAGGGGCTGGGTCTGGACTCCTGGGTCTGAGGGAG TAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGG TCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTCGACCTCTGGT TTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGG GGCTGGGTCTGGACTCCTGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGG G	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0228 a0008c0009t0001g0228	1	217	0.0046	800	c.52- others(813): Show c.52-610_52-609insCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGAC CAGGAGTCCAGACCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCC CCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAA TCCAGACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGACCCAGCC CCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAA ACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAG ACCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCT CCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCC CCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCC CTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGG TCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAG CCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCCCTACTCCCTC AGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCC AGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCC TCCTCCCTCAGACCCAGG	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
RPH3AL_chr17_207389_357807	235251	A A	AGGGTTCA others(793): Show AGGGTTCAAAGCTGGGGTCGGGGGAGGCTCTGCACTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCACTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCAGCTGAGGCTCTGCAGTAACAAGAGGGATCC CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCACTAACAAGACGGGTCC AGGGTTCAAAGCTGGGGTCGGGGGAGGCTCTGCACTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCACTAACAAGACGGATCC CGGGTTCAAAGCTGGGGTCGGGGGAGGCTCTGCACTAACAAGACAGGTCC CGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACACTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCGGGGGAGGCTCTACACTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACACTAACAAGACAGGTCC CGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCACTAACAAGACGGATCC AGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACACTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCTGCAGTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGACAGGTCC CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGATGGATCC AGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGACAGGTCC C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	113	0.0088	800	c.613 others(819): Show c.613+11859_613+11860insGGGACCTGTCTTGTTAGTGTGGAGCC TCCGCCGACCCCAGCTTTGAACCCTGGATCCATCTTGTTAGTGTGGAGCC TCCGCCGACCCCAGCTTTGAACCCGGGACCTGTCTTGTTAGTGTGGAGCC TCCGCCGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTACTGCAGAGCC TCCGCCGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTAGTGTAGAGCC TCGGCCGACCCCAGCTTTGAACCCTGGATCCGTCTTGTTAGTGCAGAGCC TCGGCCGACCCCAGCTTTGAACCCGGGACCTGTCTTGTTAGTGTAGAGCC TCGGCCGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTAGTGTAGAGCC TCCCCCGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTAGTGTAGAGCC TCGGCCGACCCCAGCTTTGAACCCGGGACCTGTCTTGTTAGTGCAGAGCC TCCCCCGACCCCAGCTTTGAACCCGGGATCCGTCTTGTTAGTGCAGAGCC TCGGCCGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTAGTGCAGAGCC TCCCCCGACCCCAGCTTTGAACCCTGGACCCGTCTTGTTAGTGCGGAGCC TCCGCCGACCCCAGCTTTGAACCCGGGATCCCTCTTGTTACTGCAGAGCC TCAGCTGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTAGTGCAGAGCC TCGGCCGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTAGTGCAGAGCC TCCCCCGACCCCAGCTTTGAACCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235985	C C	CTAACAAG others(793): Show CTAACAAGACGGATCCAGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACA CTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCTGCA GTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTTGGCGGAGGCTCCACA CTAACAAGACGGATCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA CTAACAAGATGGATCCCGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACA CTAACAAGACAGGTCCCGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCA GTGACAAGAGGGATCCAGGGTTCAAATCTGGGGTCGGCCGAGGCTCTGCA GTGACAAGAGGGATCCAGGGTTCAAATTTGGGGTCGGCCGAGGCTCTGCA CTAACAAGACGGATCCAGGGTTCAAAGCTGGGGTCGGCCGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCTACA CTAACAAGACGGATCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCCAAGGCTCCACA CTAACGAGACGGGTCCATGGGTCAAAGCTGGGGTCGGCCAAGGCTCTGCA G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0002	2	113	0.0177	800	c.613 others(819): Show c.613+11125_613+11126insCTGCAGAGCCTTGGCCGACCCCAGCT TTGACCCATGGACCCGTCTCGTTAGTGTGGAGCCTTGGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGATCCGTCTTGTTAGTGTAGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCGGCCGACCCCAGCT TTGAACCCTGGATCCGTCTTGTTAGTGCAGAGCCTCGGCCGACCCCAAAT TTGAACCCTGGATCCCTCTTGTCACTGCAGAGCCTCGGCCGACCCCAGAT TTGAACCCTGGATCCCTCTTGTCACTGCAGAGCCTCGGCCGACCCCAGCT TTGAACCCGGGACCTGTCTTGTTAGTGTAGAGCCTCGGCCGACCCCAGCT TTGAACCCGGGATCCATCTTGTTAGTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGATCCGTCTTGTTAGTGTGGAGCCTCCGCCAACCCCAGCT TTGAACCCGGGACCCGTCTTGTTACTGCAGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGACCCGTCTTGTTAGTGTAGAGCCTCGGCCGACCCCAGCT TTGAACCCTGGATCCGTCTTGTTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	C C	CCGTGTCT others(793): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCCCCGTCCCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	267	0.0037	800	c.166 others(817): Show c.1663-875_1663-874insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCC CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCCCGTGTCCCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(793): Show CCCCCACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCC CACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCAC TCTCCTCATTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCT CCTCACTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCT CATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCAT TCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCT ATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTAT CCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCC CCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCC CACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCAC AAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAG CATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCAT CACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTC CAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAAC CCTCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAACC CTCCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCAACCC T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0243 a0001c0018t0008g0243	1	192	0.0052	800	c.89- others(813): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGTAGA ATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGAA TGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATGA GGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGA GTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTA GGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG GAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAG GGTTGGAGCAGTGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGG TTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTG GAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGA GCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCA ATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTAT GCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTT GTGGGGGCATAGAGTGAGGAGAGTGGGGGAGGGCTGGAGTGATGCTTGTG GGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGG GGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGT AGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(793): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	121	0.0083	800	c.-32 others(817): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(793): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAAGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAAGG GGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAGGA GGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGGG AGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAG GAGGAGAGAAGAGGGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAG GAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGG AGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGG AGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGG AGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAG GAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAG AAGGGAGAAAGGAGGAGGGAAGGAGGAGGAAGAAAGGAGGGGAGGAGGAG AGGAAAGAGGAGGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGG A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	2	0.5000	800	c.624 others(815): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCCTCCTCTTTCCTCTCCTCCTCCCCTCCTTTCTTCCTCCTCC TTCCCTCCTCCTTTCTCCCTTCTCCTCCCCTCTTCCTTTCTCCCTCCTCC TCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTCC TCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTCC TCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCTC CTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTC TCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCT CCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTT TCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCC CTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTT CCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTC CCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTT CTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCTTCCTCTT TTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(793): Show CATCCATCTATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC TATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC TATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCTACCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATC CATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC TATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCTATCCATCCATCTATCCATCCATC T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0038 a0002c0019t0002g0038	1	273	0.0037	800	c.107 others(817): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATAGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGGTAGATGGATGGATGGGTAGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGG ATGGATGGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCTATC others(793): Show CATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATC TATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC TATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCTATCCATCCATCTATCCATCCATC T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0139 a0002c0003t0008g0139	1	273	0.0037	800	c.107 others(817): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATAGATGGATGGATAGATGGATAGATGGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT AGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTAGAT GGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCTATC others(793): Show CATCTATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCTATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTACCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATC T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0030 a0002c0003t0017g0030	1	273	0.0037	800	c.107 others(817): Show c.1075+214_1075+215insAGATGGATGGATGGATGGATAGATGGAT AGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT GGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATAGATGGATAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
TECTA_chr11_121096243_121196490	121185814	G G	GAATGAGT others(793): Show GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAGTGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAAT GAATAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCA GATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTA ATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGA AAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAAT GCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGT AGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGT TCAATGCTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCT T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0006 a0006	a0006c0060 a0006c0060	a0006c0060t0002 a0006c0060t0002	a0006c0060t0002g0026 a0006c0060t0002g0026	1	346	0.0029	800	c.600 others(819): Show c.6000-1958_6000-1957insGTGCTTAATGAGTAGGGAAAGCAGAT GTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAG CAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGA ATGCTTAATGAATGAATAGGGAAAGCAGATGTTCAATGCTTAATGAATGA GTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGAT GTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATG AGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTCAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGA ATGAGTAGGGAAAGCAGATGTTCA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1291223	G G	GACGGCAC others(793): Show GACGGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGGACGGCG CCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTC ACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCA CGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAG GGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACACCC GGGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGG CACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCAC TCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTG CACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGAC AGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACAC CCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGAC GGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTC ACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCC TACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGAC ACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCGGGG A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	257	0.0039	800	c.157 others(819): Show c.1573+2089_1573+2090insTCCCCGGGTGTCCCTGTCACGTGCAG GGTGATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTG AGGCGCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCG TCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGG TGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTG TCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGT AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAT TGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGC CGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCG GGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCC TGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTG AGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGC ACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCC CGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTC CCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCCGGGTGTCCCTGTCA CGTGTAGGGTGAGTGAGGTGCCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291227	C C	CGCCTCAC others(793): Show CGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGGGCCTCGCGTCAATCACCCT GCACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGA CAGGGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACA CCCGGGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGA CGGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCT CACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACC CTGCACGTGACAGGGACACGCGGGGGACGGCGCCTCACTCACCCTGCACG TGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGG ACACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGG GGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCG CCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTC ACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCA CGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAG GGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCC GGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAG T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	300	0.0033	800	c.157 others(819): Show c.1573+2085_1573+2086insACTGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG ATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTC CCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCAC GTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGG TGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGAC GCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGT GTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGT CACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGCA GGGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTGAGT GAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACT GTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCCG GGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCC TGTCACGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(793): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATACATAAAAATTATATATATATTATATATACATA AAAATTATATATATATTATATATACATAAAAATTATATATATATTATATA TACATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT AATATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	800	c.29 others(811): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATACATAAAAATTATATATA TATTATATATACATAAAAATTATATATATATTATATATACATAAAAATTA TATATATATTATATATACATAAAAATTATATATATATTATATATATATAA AAATTATATATATATAATATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar

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