Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
FBXO47_chr17_38931432_38972403	38946669	T T	TATATATA others(811): Show TATATATAAATATATAAATATATATGAATATATAAATATATATAAATATA TAAATATATAAATAAAAATATATAAAAATATATACATATATAAATATAAA TATATAATATATAAATATATAAATATAAATATATAAAAATATATAAATAT ATAAAAATATATAAATATATAAAAATATATAAATATATAAATATATATAA ATATATAAATATATAAATATATAAATATATAAATATATATAAATATATAA ATATATAAATATATAAATATATATAAATATATAAATATATAAATATATAA AAATATATAAATACATAAATATATAAATATATAAATATATAAATATATAT AAGTACATATAAATATATATACATAAATATATAAATATATAAATATATAA ATATATAAATACATAATATATATAAATATAAAATATATATAATATATAAA ATATATTAAAAATATAAAAATATATATAAAAAAATATATAAATATATAAA AATATATAAAAAATATATACACATATAAATATATATAAAAATATATAAAT ATATAAAAAAATATATAAATATATATTATATATAAATATATATAAATATA TAAATATATATAAATATATACAATATATAAATATATATAAATATATACAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ACAATATATAAATATATATAAATATATACAATATATAAATATATATAAAT ATATATAATATATAAATATATATAAATATATAAATATATATAAATATATA TAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	217	0.0046	818	c.617 others(835): Show c.617-1534_617-1533insTATATATATTTATATATTATATATATTT ATATATATTTATATATTTATATATATTTATATATTATATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTGTATATATTTA TATATATTTATATATTGTATATATTTATATATATTTATATATTGTATATA TTTATATATATTTATATATTGTATATATTTATATATATTTATATATTTAT ATATATTTATATATAATATATATTTATATATTTTTTTATATATTTATATA TTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTATATAT TTATATATTTTTTTATATATATTTTTATATTTTTAATATATTTTATATAT TATATATATTTTATATTTATATATATTATGTATTTATATATTTATATATT TATATATTTATATATTTATGTATATATATTTATATGTACTTATATATATT TATATATTTATATATTTATATATTTATGTATTTATATATTTTTATATATT TATATATTTATATATTTATATATATTTATATATTTATATATTTATATATT TATATATATTTATATATTTATATATTTATATATTTATATATTTATATATA TTTATATATTTATATATTTTTATATATTTATATATTTTTATATATTTATA TATTTTTATATATTTATATTTATATATTTATATATTATATATTTATATTT ATATATGTATATATTTTTATATATTTTTATTTATATATTTATATATTTAT ATATATTTATATATTCATATATATTTATATATTTATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATATA others(811): Show TATATATAAATATATAAATATATATGAATATATAAATATATATAAATATA TAAATATATAAATAAAAATATATAAAAATATATACATATATAAATATAAA TATATAATATATAAATATATAAATATAAATATATAAAAATATATAAATAT ATAAAAATATATAAATATATAAAAATATATAAATATATAAATATATATAA ATATATAAATATATAAATATATAAATATATAAATATATATAAATATATAA ATATATAAATATATATAAATATATAAATATATAAATATATAAAAATATAT AAATACATAAATATATAAATATATAAATATATAAATATATAAATATATAT AAGTACATATAAATATATATACATAAATATATAAATATATAAATATATAA ATATATAAATACATAATATATATAAATATAAAATATATATAATATATAAA ATATATTAAAAATATAAAAATATATATAAAAAAATATATAAATATATAAA AATATATAAAAAATATATACACATATAAATATATATAAAAATATATAAAT ATATAAAAAAATATATAAATATATATTATATATAAATATATATAAATATA TAAATATATATAAATATATACAATATATAAATATATATAAATATATACAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ACAATATATAAATATATATAAATATATACAATATATAAATATATATAAAT ATATATAATATATAAATATATATAAATATATAAATATATATAAATATATA TAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02486.hp1 others(4): Show HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02965.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 others(4): Show a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0330	7	223	0.0314	818	c.617 others(835): Show c.617-1534_617-1533insTATATATATTTATATATTATATATATTT ATATATATTTATATATTTATATATATTTATATATTATATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTGTATATATTTA TATATATTTATATATTGTATATATTTATATATATTTATATATTGTATATA TTTATATATATTTATATATTGTATATATTTATATATATTTATATATTTAT ATATATTTATATATAATATATATTTATATATTTTTTTATATATTTATATA TTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTATATAT TTATATATTTTTTTATATATATTTTTATATTTTTAATATATTTTATATAT TATATATATTTTATATTTATATATATTATGTATTTATATATTTATATATT TATATATTTATATATTTATGTATATATATTTATATGTACTTATATATATT TATATATTTATATATTTATATATTTATATATTTATGTATTTATATATTTT TATATATTTATATATTTATATATTTATATATATTTATATATTTATATATT TATATATATTTATATATTTATATATTTATATATTTATATATTTATATATA TTTATATATTTATATATTTTTATATATTTATATATTTTTATATATTTATA TATTTTTATATATTTATATTTATATATTTATATATTATATATTTATATTT ATATATGTATATATTTTTATATATTTTTATTTATATATTTATATATTTAT ATATATTTATATATTCATATATATTTATATATTTATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATATA others(811): Show TATATATAAATATATAAATATATATGAATATATAAATATATATAAATATA TAAATATATAAATAAAAATATATAAAAATATATACATATATAAATATAAA TATATAATATATAAATATATAAATATAAATATATAAAAATATATAAATAT ATAAAAATATATAAATATATAAAAATATATAAATATATAAATATATATAA ATATATAAATATATAAATATATAAATATATATAAATATATAAATATATAA ATATATAAATATATATAAATATATAAATATATAAATATATAAAAATATAT AAATACATAAATATATAAATATATAAATATATAAATATATAAATATATAT AAGTACATATAAATATATATACATAAATATATAAATATATAAATATATAA ATATATAAATACATAATATATATAAATATAAAATATATATAATATATAAA ATATATTAAAAATATAAAAATATATATAAAAAAATATATAAATATATAAA AATATATAAAAAATATATACACATATAAATATATATAAAAATATATAAAT ATATAAAAAAATATATAAATATATATTATATATAAATATATATAAATATA TAAATATATATAAATATATACAATATATAAATATATATAAATATATACAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ACAATATATAAATATATATAAATATATACAATATATAAATATATATAAAT ATATATAATATATAAATATATATAAATATATAAATATATATAAATATATA TAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	217	0.0046	818	c.617 others(835): Show c.617-1534_617-1533insTATATATATTTATATATTATATATATTT ATATATATTTATATATTTATATATATTTATATATTATATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTGTATATATTTA TATATATTTATATATTGTATATATTTATATATATTTATATATTGTATATA TTTATATATATTTATATATTGTATATATTTATATATATTTATATATTTAT ATATATTTATATATAATATATATTTATATATTTTTTTATATATTTATATA TTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTATATAT TTATATATTTTTTTATATATATTTTTATATTTTTAATATATTTTATATAT TATATATATTTTATATTTATATATATTATGTATTTATATATTTATATATT TATATATTTATATATTTATGTATATATATTTATATGTACTTATATATATT TATATATTTATATATTTATATATTTATATATTTATGTATTTATATATTTT TATATATTTATATATTTATATATTTATATATATTTATATATTTATATATT TATATATTTATATATATTTATATATTTATATATTTATATATTTATATATA TTTATATATTTATATATTTTTATATATTTATATATTTTTATATATTTATA TATTTTTATATATTTATATTTATATATTTATATATTATATATTTATATTT ATATATGTATATATTTTTATATATTTTTATTTATATATTTATATATTTAT ATATATTTATATATTCATATATATTTATATATTTATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(811): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATC CTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCT CTCCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCC TCCCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTC TCTTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCT CTCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCC CCTCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCT CCCTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCC TTTTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCT CCCCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTT CCTCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCT CCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCC TGCCTCTTCTCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTC CCCTCCCCTCCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCT CTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0010 a0001c0006t0004g0010	1	2	0.5000	818	c.123 others(839): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCT CCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCT CTCCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTC CTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCC CCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCC TCCCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCT TCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCT CCCCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTT CCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTT CCCTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCC CTCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCT CCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCC CTTTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTC CCCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCC TCACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(811): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATC CTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCT CTCCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCC TCCCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTC TCTTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCT CTCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCC CCTCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCT CCCTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCC TTTTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCT CCCCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTT CCTCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCT CCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCC TGCTTCTTCTCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTC CCCTCCCCTCCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCT CTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG02738.hp2 others(2): Show HG00140.hp2 HG00733.hp1 HG02738.hp2 HG03491.hp2 NA19004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0051 a0002c0003t0003 a0002c0003t0051	a0002c0003t0003g0013 a0002c0003t0003g0059 a0002c0003t0003g0072 others(2): Show a0002c0003t0003g0013 a0002c0003t0003g0059 a0002c0003t0003g0072 a0002c0003t0003g0076 a0002c0003t0051g0016	5	6	0.8333	818	c.123 others(839): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCT CCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCT CTCCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTC CTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCC CCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCC TCCCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCT TCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCT CCCCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTT CCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTT CCCTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCC CTCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCT CCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCC CTTTTTCTCCCCTCCCCTCCCTGCTTCTTCTCCTTTCCTCCCTTCCCCTC CCCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCC TCACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(811): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATC CTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCT CTCCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCC TCCCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTC TCTTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCT CTCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCC CCTCCCCCTCTCCTCCCTTCCTCGCCCCTCCTCTTTTTCTCTCTTCCCCT CCCTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCC TTTTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCT CCCCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTT CCTCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCT CCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCC TGCCTCTTCTCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTC CCCTCCCCTCCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCT CTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02647.hp1 others(1): Show HG02257.hp1 HG02572.hp1 HG02647.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0017 a0001c0001t0043 a0001c0001t0013 a0001c0001t0017 a0001c0001t0043	a0001c0001t0013g0044 a0001c0001t0013g0077 a0001c0001t0017g0055 others(1): Show a0001c0001t0013g0044 a0001c0001t0013g0077 a0001c0001t0017g0055 a0001c0001t0043g0045	4	5	0.8000	818	c.123 others(839): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCT CCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCT CTCCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTC CTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCC CCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCC TCCCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCT TCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCT CCTCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTT CCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTT CCCTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCC CTCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCT CCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCC CTTTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTC CCCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCC TCACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FLT3_chr13_27998274_28105576	27999113	A A	ATATGTAT others(811): Show ATATGTATATTATATACATATAAATATATATTTACATACATATAAATATA TATTTACATACATATAAATATATATATTTACATACATATAAATATATATT TACATACATATAACTATATATATTCACATACATATAACTATATATATTTA CATACATATAACTATATATATTTACATACATATAACTATATATATTTACA TACATATAAATATATATATTTACATACATATAAATATATATATTTACATA CATATAAATATATATATTTACATACATATAAATATATATATTTACATACA TATAAATATATATATTTACATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACTTATATACATATAAATTTATATACTTATATACATATAAATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TGCATATAAATATATATATTTATATGCATATAAATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATTTATATGTATATAAGTATATA AATTTATATGTATATAAGTATATAAATATATATTTATATACATATAAATA TATATTTATATACATATAAAAATATATTTATATACATATAAAAATATATA TTTATATACATATAAAAATATATATTTATATACATATAAATATATATATT TATATACATATAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0004 a0018c0023t0004	a0018c0023t0004g0038 a0018c0023t0004g0038	1	24	0.0417	818	c.49 others(829): Show c.4938_*4939insATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATATATATTTTTATATGTATATAAATATATATTTTTATAT GTATATAAATATATTTTTATATGTATATAAATATATATTTATATGTATAT AAATATATATTTATATACTTATATACATATAAATTTATATACTTATATAC ATATAAATTTATATACATATAAATATATATATTTATATACATATAAATAT ATATATTTATATACATATAAATATATATATTTATATACATATAAATATAT ATTTATATGCATATAAATATATATATTTATATGCATATAAATATATATAT TTATATGTATATAAATATATATATTTATATGTATATAAATTTATATGTAT ATAAGTATATAAATTTATATGTATATAAGTATATAAATTTATATGTATAT AAATATATATTTATATGTATATAATTATATATATTTATATGTATATAATT ATATATTTATATGTATGTAAATATATATATTTATATGTATGTAAATATAT ATATTTATATGTATGTAAATATATATATTTATATGTATGTAAATATATAT ATTTATATGTATGTAAATATATATATTTATATGTATGTAAATATATATAG TTATATGTATGTAAATATATATAGTTATATGTATGTAAATATATATAGTT ATATGTATGTGAATATATATAGTTATATGTATGTAAATATATATTTATAT GTATGTAAATATATATATTTATATGTATGTAAATATATATTTATATGTAT GTAAATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4160		chr13	TogoVar
GLT1D1_chr12_128848478_128989968	128866235	A A	ATTTTTTA others(811): Show ATTTTTTATATTTTTTTTTTTTTTTTTTGAGTTTCAGGAGCAGAAAGTTT AATAGACAAAAGACAGAAGAGAGAGAGGGAGAGAGAGAGCTTCCTCCTGC GGAGAAAGTGGGTCACCATAGCAGGTTTCCAGGTTTGGGGCAGAATGTGA TCAATTTTATAGAGAGGCTTGAGGAGGCAGTGATTGATTTATATATGTCC CAGGAAATTGGTTTGACCAGGTGTGGCATTTACATAGCACACGAGGAAAC TGGCCCTCCCACACTAATCTTATTATGCAAATGTGGACACCCACATGCAT GGTGACAAAGTAAAGGGAGAGGGAATCGCCACTTTGAGTGTACTTGGCTT TTAGTATAGCTGCTGGCATTTACATATGCAAACTTCCAGCTTGCTTATCT ATGCTTGCAGTTTGACTTTTCAGGCTGCTTTCTTTTAGAAAAGAGATGGT TTTTTGGCTGCTTTTCATTGAAGGAAAATTCCACCGAGAACTCTTTTACC CTTGCTAACTGCCTAAAATATATATATATATTTTTTTTTATTATACTCTA AGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACA TGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGT ATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCC CAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATT CCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTTGTTCTTGCGAT AGTTTACTGAGAATGATGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02451.hp1 HG00642.hp2 HG02451.hp1	a0003 a0005 a0003 a0005	a0003c0005 a0005c0009 a0003c0005 a0005c0009	a0003c0005t0004 a0005c0009t0007 a0003c0005t0004 a0005c0009t0007	a0003c0005t0004g0145 a0005c0009t0007g0079 a0003c0005t0004g0145 a0005c0009t0007g0079	2	304	0.0066	818	c.69- others(833): Show c.69-9664_69-9663insTTTTTTTTTTTTGAGTTTCAGGAGCAGAAA GTTTAATAGACAAAAGACAGAAGAGAGAGAGGGAGAGAGAGAGCTTCCTC CTGCGGAGAAAGTGGGTCACCATAGCAGGTTTCCAGGTTTGGGGCAGAAT GTGATCAATTTTATAGAGAGGCTTGAGGAGGCAGTGATTGATTTATATAT GTCCCAGGAAATTGGTTTGACCAGGTGTGGCATTTACATAGCACACGAGG AAACTGGCCCTCCCACACTAATCTTATTATGCAAATGTGGACACCCACAT GCATGGTGACAAAGTAAAGGGAGAGGGAATCGCCACTTTGAGTGTACTTG GCTTTTAGTATAGCTGCTGGCATTTACATATGCAAACTTCCAGCTTGCTT ATCTATGCTTGCAGTTTGACTTTTCAGGCTGCTTTCTTTTAGAAAAGAGA TGGTTTTTTGGCTGCTTTTCATTGAAGGAAAATTCCACCGAGAACTCTTT TACCCTTGCTAACTGCCTAAAATATATATATATATTTTTTTTTATTATAC TCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTA TACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATT AGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAG TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTC AATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTTGTTCTTG CGATAGTTTACTGAGAATGATGGTTTTTTATATTTTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(811): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGACAG GGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGA GGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGAGAGGA GGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGG CAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAGGGGCAGGGAGAGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	13	0.0769	818	c.978 others(835): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGG GAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAG GAGAGAGGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGA GAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGA GAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KLK4_chr19_50901351_50916395	50914030	C C	CTCTCTCT others(811): Show CTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTCTCTGCACCT GTGTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGT CTCTCTGTCTGTGTCTCCGCACCTGTGTGTCTGTCCATCTTTCTCTGTGT CTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTCTCCGCACCTGT CTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCTCT CTGTCTGTCTCTGCACCTGTGTCTGTCCATCTTTCTCTGTGTCTCTCTCC TCCCATCTCTGTCTCTGTCTCTCTGTCTGTGTCTCCGCACCTGTGTGTCT GTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGTCTCTGTCTCT CTGTCTGTGTCTCCGCACCTGTGTCTCTGTCCATCTTTCTCTGTGTCTCT CTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGGCTTCGCACCTGT CTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGTCTCTGT CTCTCTGTCTGTGTCTCCGCACCTGTGTGTCTGTCCATCTTTCTCTGTCT CTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTCTCTGCACCTGT GTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCT CTCTGTCTGTGTCTCCGCACCTGTGTGTCTGTCCATCTTTCTCTGTGTCT CTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTCTCTGCACCTGTCT CTGTCCATCTTTCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	383	0.0026	818	c.-27 others(829): Show c.-2704_-2703insCACAGAGAAAGATGGACAGAGACAGGTGCAGAGA CAGACAGAGAGACAGAGACAGAGATGGGAGGAGAGAGACACAGAGAAAGA TGGACAGACACACAGGTGCGGAGACACAGACAGAGAGACAGAGACAGAGA TGGGAGGAGAGAGACACAGAGAAAGATGGACAGACACAGGTGCAGAGACA GACAGAGAGACAGAGACAGAGATGGGAGGAGAGAGAGACAGAGAAAGATG GACAGACACACAGGTGCGGAGACACAGACAGAGAGACAGAGACAGAGATG GGAGGAGAGAGAGACACAGAGAAAGATGGACAGAGACAGGTGCGAAGCCA CAGACAGAGAGACAGAGACAGAGATGGGAGGAGAGAGAGACACAGAGAAA GATGGACAGAGACACAGGTGCGGAGACACAGACAGAGAGACAGAGACAGA GATGGGAGGAGAGAGAGACACAGAGAAAGATGGACAGACACACAGGTGCG GAGACACAGACAGAGAGACAGAGACAGAGATGGGAGGAGAGAGACACAGA GAAAGATGGACAGACACAGGTGCAGAGACAGACAGAGAGACAGAGACAGA GATGGGAGGAGAGAGACACAGAGAAAGATGGACAGACAGGTGCGGAGACA GACAGAGAGACAGAGACAGAGATGGGAGGAGAGAGACACAGAGAAAGATG GACAGACACACAGGTGCGGAGACACAGACAGAGAGACAGAGACAGAGATG GGAGGAGAGAGACACAGAGAAAGATGGACAGACACAGGTGCAGAGACAGA CAGAGAGACAGAGACAGAGATGGGAGGAGAGAGA	KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding		2636		chr19	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(811): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCTCTCCCTCCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCC TCCTCTCCCTCCTCCCTCTCCCTCCTCTCCCTCTCCCTCACCCCCTCCTT CCCTTTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCTCCTTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCAC TCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	4	0.2500	818	c.-27 others(829): Show c.-2751_-2750insAGGGAGAGGGAGAGGGAGAGTGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGGAGAGGAGGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAAAGGGAAGGAGGGGGTGAGG GAGAGGGAGAGGAGGGAGAGGGAGGAGGGAGAGGAGGGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGAGAGGGAGAGGAGGGAGAGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(811): Show TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATATCCATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATCCATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATCCATATATATATATATCCATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0251 a0002c0002t0002g0251	1	207	0.0048	818	c.126 others(835): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATGGATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATGGATATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(811): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAA ATATAGTCATATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATATATAGTTATATGTATATAAAGCTATAGTCATATATGTATATAAAA CTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAATTATATAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAACTATACAGTCAT ATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAT AGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAA AACTATATAGTTATATATGTATATAAAACTATATAGTTATATATGTATAT AAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAA AACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAA CTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTAT ATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 NA20129.hp1 HG02486.hp2 NA20129.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0001 a0002c0005t0001g0001	2	171	0.0117	818	c.-30 others(829): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATATATAGTTATATGTATATAAAGCTATAGTCA TATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATA CAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAAT TATATAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATA GTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGT TATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(811): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAA AACTATATATAGTTATATGTATATAAAACTATATATAGTTATATGTATAT AAAACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTAT ATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTCATATAT GTATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTC ATATATGTATATAAAACTATACAGTCATATATGTATATAAAACTATATAT AGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATAGTCATATATGTATATAA AACTATATAGTCATATATGTATATAAAACTATATAGTTATATATGTATAT AAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAA AACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAA CTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTAT ATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02886.hp1 others(1): Show HG02630.hp2 HG02717.hp1 HG02886.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0003 a0001c0001t0001g0011	4	173	0.0231	818	c.-30 others(829): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTAAATATAGT CATATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATATA TAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATA TAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAAC TATATAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGT CATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATA GTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGT TATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LUC7L_chr16_183990_234449	187190	G G	GGAGGAAC others(811): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTC ACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAA CAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGA GGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGAC ACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAAC AGCGACACGGGAGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGC GACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGG AACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	249	0.0040	818	c.20 others(829): Show c.2007_*2008insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT CCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTC CCTCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCC TCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1799		chr16	TogoVar
MANBA_chr4_102625770_102765968	102661985	T T	TAATACTA others(811): Show TAATACTATTCATCTTTGGCCATGAGAGAAATGCATATCAAAACCACAAT GAGATACCATCTCACACCAGTTAGAATGGTGATCATTAAAAAGTTGGGAA ACAACAGGTGCTGGAGAGGGTGTGGAGAAATAGGAAGACTTTTACACTGT TGGTGGGACTGTAAACTAGTTAGTCCACCGTGGAAGACAGTGTGGTGATT CCTCAAGGATCTAGAACCAGAAATACCGTTTGACCCAGCCATCCCATTCC TGGGCATATACCCAAAGTATTATAAATCATGCTGCTACAAAGACACATGC ACATGTATGTTTATTGCAGCACTATTCACAACAGCAAAGACTTGGAACCG ACCCAAATGTCCATCAATGATAGACTAGATTAAGAAAATGTGGCACATAT ACACCATGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTTT GTAGGGACATGAATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCA AGGACAAAAAACCAAACACCTCACGTTCTCACTCATAGGTGGGAACTGAA CAATGAGAACACTTGGACACAGGAAGGGGAACATCACACACCGGGACCTG TTGTGGGGTGGGGGTAGGGGGGAGGGATACCATTAGGAGATATACCTAAT GTAAACGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACA TATGTAACTAACCTGCATGTTGTGCACATGTACCCTAGAACTTAAAGTAT AATAAATATATATATATATATATATAAAGAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19091.hp2 NA18949.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0207 a0001c0001t0003g0038 a0001c0001t0003g0207	2	277	0.0072	818	c.148 others(837): Show c.1485+2699_1485+2700insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTCTTTATATATATATATATATATATTTATTATACTTT AAGTTCTAGGGTACATGTGCACAACATGCAGGTTAGTTACATATGTATAC ATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCGTTTACATTAGGT ATATCTCCTAATGGTATCCCTCCCCCCTACCCCCACCCCACAACAGGTCC CGGTGTGTGATGTTCCCCTTCCTGTGTCCAAGTGTTCTCATTGTTCAGTT CCCACCTATGAGTGAGAACGTGAGGTGTTTGGTTTTTTGTCCTTGCGATA GTTTGCTGAGAATGATGGTTTCCAGCTTCATTCATGTCCCTACAAAGGAC ATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTG CCACATTTTCTTAATCTAGTCTATCATTGATGGACATTTGGGTCGGTTCC AAGTCTTTGCTGTTGTGAATAGTGCTGCAATAAACATACATGTGCATGTG TCTTTGTAGCAGCATGATTTATAATACTTTGGGTATATGCCCAGGAATGG GATGGCTGGGTCAAACGGTATTTCTGGTTCTAGATCCTTGAGGAATCACC ACACTGTCTTCCACGGTGGACTAACTAGTTTACAGTCCCACCAACAGTGT AAAAGTCTTCCTATTTCTCCACACCCTCTCCAGCACCTGTTGTTTCCCAA CTTTTTAATGATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGG TTTTGATATGCATTTCTCTCATGGCCAAAGATGAATAGTATT	MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding	11/16			chr4	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(811): Show CCTCCTCTGTCCTCCCCTCCCCTCCTCTCTCCTCCTCTCTCCTCCCTTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCCTCCCCTCCCCTCCTCTCTCCTCCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCCTCCCC TCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCC GCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCC TCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCT CCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCT CCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCCTCCCTTCCCCTCTCC TCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCT TCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCC TCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTC TCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCC TCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTT TCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0018 a0003c0005t0002g0018	1	125	0.0080	818	c.-49 others(829): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGG AGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGG AGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAG AGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGG GGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGG GGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGA GGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGAGAGAGG AGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGGAGGAGAGAG GAGGGGAGGGGAGGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGA GGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAAGGGAGGAGAGA GGAGGAGAGAGGAGGGGAGGGGAGGACAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(811): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGAAAAGGGGC GGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGGAAAGGGGTGGGGGGG AAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGGGAAGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGGTGAGGGGAAGGGGG GAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGG GGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGA GGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGG AGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGAGGGGAGGGGGA GGGAGGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGT GGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGG GAAGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGGAGGGGGAGGGAGG GGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	8	0.1250	818	c.250 others(833): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCCTCCCTCCCCCTCCCC TCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCC TCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCCTCCCCTCC CCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCC TCACCCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCC CTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCCACCC CTTTCCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCC CCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCT TCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(811): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGG GAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCG GGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGG GGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGG GGGAAAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGG GGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGG GGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGG AGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGA GGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGA TGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGG GAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGG GGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	8	0.1250	818	c.250 others(833): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTC CCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCT TCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTC CCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTC CCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTC CCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCC TCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(811): Show AAGGGGGGAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAG GGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGG GAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAA GGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTG AGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGA GGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGG AGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGA GGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGA TGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGG GAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGG GGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	8	0.1250	818	c.250 others(833): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCC CCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACC CCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCC CCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCC CCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCT CCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCC TCCTTCCCCCTCCTTCCCCCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(811): Show AAGGGGGGAAGGGGGGAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGG GGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGG GGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGG GAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGG GAAGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGG GAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATG GAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGA GGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGAGGGGAGGGGG AGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGT GGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGG GAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGG GGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	8	0.1250	818	c.250 others(833): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCT CACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCC TTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCTTCCCCCCCACCCC TTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCT TTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCT CCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCTCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NFATC1_chr18_79390930_79534323	79494477	G G	GGGAAGGC others(811): Show GGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGA AAGCGAGAACGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAAGC GAGAGCGGGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGG GCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGC ACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGACACACGCCCCCCA TCGACCTGGTGCGGCCGGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0022 a0002c0047t0022	a0002c0047t0022g0231 a0002c0047t0022g0231	1	307	0.0033	818	c.278 others(837): Show c.2782+7570_2782+7571insCAACCTGGTGCGGCCGGGGGAAGGCG AGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAAGCGAG AACGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAAGCGAGAGCG GGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGG CACACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCC CATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATC AACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCATCG ACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGAC CTGGTACCGCCGGGGGAAGGCGAGAGCGGACACACGCCCCCCATCGACCT GGTGCGGCCGGAGGAAGGCGAGAGCGGGCACACGCCCCCCAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(811): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT ACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCC CGCACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCT CCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTC CCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCAC CTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACC TCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAG CCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCC CACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGC ACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCA CCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCT CCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0279 a0002c0004t0003g0279	1	118	0.0085	818	c.35 others(829): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCA CCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCATCTTTTACCTCCCC CCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCC CTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCC ACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCC CCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCC ACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC TCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCC GCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCT CCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCT CCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACC TTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PEBP1_chr12_118131124_118150584	118133183	T T	TATATTTT others(811): Show TATATTTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	401	0.0025	818	c.-30 others(829): Show c.-3027_-3026insATATTTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATTTCATTTC	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2940		chr12	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(811): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACT GAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGC ACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGA GGGGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATG CACTGAGTCTGGGGAGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGA GGGGGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGAT GCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGG GGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGG GATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0006 a0006	a0006c0056 a0006c0056	a0006c0056t0001 a0006c0056t0001	a0006c0056t0001g0036 a0006c0056t0001g0036	1	34	0.0294	818	c.299 others(833): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCCCCCCTCCCCAGACTCAGTGCATCCCCACAC CCCCCCCTCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACA CCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCA GACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCC ACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCC CAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCC CCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCC CCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCAT CCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCT CCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGC ATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCATGCCCCGCC CTCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
POLG_chr15_89311320_89339824	89325131	A A	AGTGAGTG others(811): Show AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGTGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGAGAGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0211 a0002c0002t0005g0211	1	349	0.0029	818	c.194 others(835): Show c.1949+318_1949+319insACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCAC TCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCTCTC ACTCACTCACTCTCTCACTCACTCTCTCACTCTCTCACTCACTCACTCTC TCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTC ACTCACTCACTCACTCTCTCACTCTCACTCACTCACTCTCTCACTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCAC TCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTC ACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTC TCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTC TCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTC TCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACACTCACTCACTCACTCACTCACTCTCTCACTC TCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTC ACTCTCACTCACTCACTCTCTCACTCACTCACTCACTCAC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(811): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAACATATATTATATAATATG TAATACACAACATATATTATATAATATGTAATACACAACATATATTATAT AATATGTAATACACAACATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATA CATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATA TGTAATATATATTATACATTATTATATAAGTATATGTAATATATAGTATA CATTATTATATAAGCATATAATATATAATACATAATACATTATATATAAG CATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0173 a0001c0001t0006g0173	1	19	0.0526	818	c.24+ others(835): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAACATATATTATATAATATGTAATACACAACATATATTATATAATATGT AATACACAACATATATTATATAATATGTAATACACAACATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACATTATACATTATTATAT AAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATACATT ATACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAA GTATATGTAATATATAGTATACATTATTATATAAGCATATAATATATAAT ACATAATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RGN_chrX_47073443_47098313	47089400	A A	AATATATT others(811): Show AATATATTTATATTATATAATTATAATATTAATATAATATATTTATATTA TATAATTATAATATTAATATAATATATTTATATTATATAATTATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATATTTAT ATTATATAAATATAATATAATTATATAATATAATTATATTATATAAATAT AATATAATTATATAATTATATAATATAATTATATTATATAAATATAATAA TATAATATAATTATATAAATATAATAATATAATATAATTATATAAATATA ATAATATAATATAATAATATAATATAATATAATTATATTTTTATATAATA TAATTATATTATATAATTATATAATATAATATAATTATATTATGTAATTA TATAATATAATATAATTATATTATATTATATAATTACATAATATAATATA ATTATATTATATAATTATATAATATAATATAATATAATTATATTATATAA TTATATAATAAATATAATATAATTATATTATATAATTATATTATAAATAT AATATAATTATATTATATAATTATATTATAAATATAATATAATTATATTA TATAATTATATAATAAATATAATATAATTATATTATATAATTATATAATA AATATAATATAATTATATTATATAATATGATATAATATAATATAATATAA TATAATATAATTATATTATATAATTATATAATATAATATAATATAATTAT ATTATATGATTATATATAATTACATAATATAATATAATATAATTATATTA TATGATTATATATAATTAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0092 a0001c0001t0008g0092	1	195	0.0051	818	c.347 others(833): Show c.347-370_347-369insTTATATTATATAATTATAATATTAATATAA TATATTTATATTATATAATTATAATATTAATATAATATATTTATATTATA TAATTATAATTATATAATATATTTATATTATATAAATATAATATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATAATTAT ATTATATAAATATAATATAATTATATAATTATATAATATAATTATATTAT ATAAATATAATAATATAATATAATTATATAAATATAATAATATAATATAA TTATATAAATATAATAATATAATATAATAATATAATATAATATAATTATA TTTTTATATAATATAATTATATTATATAATTATATAATATAATATAATTA TATTATGTAATTATATAATATAATATAATTATATTATATTATATAATTAC ATAATATAATATAATTATATTATATAATTATATAATATAATATAATATAA TTATATTATATAATTATATAATAAATATAATATAATTATATTATATAATT ATATTATAAATATAATATAATTATATTATATAATTATATTATAAATATAA TATAATTATATTATATAATTATATAATAAATATAATATAATTATATTATA TAATTATATAATAAATATAATATAATTATATTATATAATATGATATAATA TAATATAATATAATATAATATAATTATATTATATAATTATATAATATAAT ATAATATAATTATATTATATGATTATATATAATTACATAATATAATATAA TATAATTATATTATATGATTATATATAATTACATATAT	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(811): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01496.hp1 others(9): Show HG00438.hp2 HG00558.hp1 HG01496.hp1 HG02148.hp1 NA18948.hp2 NA18949.hp2 NA18957.hp2 NA18978.hp1 NA18989.hp1 NA18989.hp2 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0136 a0001c0001t0001g0187 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0136 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0246 a0001c0001t0001g0282	12	140	0.0857	818	c.-75 others(837): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAACATGTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATAT AAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATA AATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATA TAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAA TATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAA TATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAA TATGTAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(811): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATACATGTTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	129	0.0078	818	c.-75 others(837): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAACATGTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATAT AAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATA AATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATA TAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAA TATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAA TATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAA TATGTAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(811): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTT ATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTT ATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATA TTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18986.hp1 NA19012.hp1 HG02135.hp2 NA18986.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030	3	29	0.1034	818	c.-75 others(837): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATAAACTAAATATATAA ATATGTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATAT GTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATATGTAAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAA ATAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATATATAAATATATATTTATAAA CTAAATATATAAATATATATTTATAAACTAAATATATAAATATATGTTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATA AATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATA TATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RUSC2_chr9_35485111_35566895	35495159	T T	TTTTATAT others(811): Show TTTTATATATTATATTTTATATATAATATAATATATTTTATATATATTTT ATATATAATATAATATATTTTATATAATATATTATATATTATATAATATA TTTTATATAATATATTATATATTATATATAATATTTTATTATGTAATATA TAATATATATTTTATATATTATATATATTTTATTATATAATATATTTATA TATAATATATATTTTATATATAATATAATATATTTTATTTTATATAATGT ATTATATAATATATAATATATAACATATTTTATTATATATTATATAATAA TATATAACATATTTTATTATATATTATATAATAATATATAACATATTTTA TTATATATTATATAATAATATATAACATATTATATATTATATAATAATAT ATAACATATTTTATTATATAATATATAATATATTATATAATATATATTTT ATTGTATATAATATATTTTATTGTATATTATATATAATATATTTTATTGT ATATTATATATAATATATTTTATTGTATATTATATATAATATATTTTATT ATATAATTTATTATAATATATATATTTTATAATATATATAATATATTTTA TTATTATATATTTTATTATAATATATACAATATATTTTATTATAATATAT AATATATTTTATAATATATATTTTATTATAATATATATATTTTATAATAT ATATATTTTATAATATATATATTTTATTATAATATATATTTTATTATATA TAATATATTTTATAATATATATAATATATTTTATTAAATATATATAATAT ATTTTATTAAATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	106	0.0094	818	c.-93 others(835): Show c.-93+4987_-93+4988insTTTATATATTATATTTTATATATAATAT AATATATTTTATATATATTTTATATATAATATAATATATTTTATATAATA TATTATATATTATATAATATATTTTATATAATATATTATATATTATATAT AATATTTTATTATGTAATATATAATATATATTTTATATATTATATATATT TTATTATATAATATATTTATATATAATATATATTTTATATATAATATAAT ATATTTTATTTTATATAATGTATTATATAATATATAATATATAACATATT TTATTATATATTATATAATAATATATAACATATTTTATTATATATTATAT AATAATATATAACATATTTTATTATATATTATATAATAATATATAACATA TTATATATTATATAATAATATATAACATATTTTATTATATAATATATAAT ATATTATATAATATATATTTTATTGTATATAATATATTTTATTGTATATT ATATATAATATATTTTATTGTATATTATATATAATATATTTTATTGTATA TTATATATAATATATTTTATTATATAATTTATTATAATATATATATTTTA TAATATATATAATATATTTTATTATTATATATTTTATTATAATATATACA ATATATTTTATTATAATATATAATATATTTTATAATATATATTTTATTAT AATATATATATTTTATAATATATATATTTTATAATATATATATTTTATTA TAATATATATTTTATTATATATAATATATTTTATAATATATATAATATAT TTTATTAAATATATATAATATATTTTATTAAATATATATA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(811): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGG AGGAGGAGCAGGAGGAGGAGGGAGGAACAGGAGGAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGG AGGAGGAAGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0134 a0003c0014t0001g0134	1	2	0.5000	818	c.-12 others(837): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTGTTCCTCCCTCCTCCTCCTGCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTC TCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGG ACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGG CATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCC TGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCC TGTTCCTCCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTC CTGTTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCC TAGCACCTGTTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(811): Show TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGT TGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTG GGTGAGGGGTTGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTG GGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAG GGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGTTGGGGGG GTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGTTGGGGGGG TTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGG TTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	136	0.0074	818	c.464 others(831): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGG TGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTG GGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGG GGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGTTGGGGGGG TTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTT GGGTGAGGGGTTGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGA GGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAG GGGGTTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(811): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18975.hp1 NA18978.hp2 HG02300.hp2 NA18975.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0002 a0001c0001t0002 a0001c0013t0002	a0001c0001t0002g0047 a0001c0001t0002g0064 a0001c0013t0002g0057 a0001c0001t0002g0047 a0001c0001t0002g0064 a0001c0013t0002g0057	3	168	0.0179	818	c.115 others(835): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(811): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGT CGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCG CCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGC CTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG03098.hp2 HG02630.hp1 HG02717.hp2 HG03098.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0170 a0004c0006t0002g0172 a0004c0006t0002g0173 a0004c0006t0002g0170 a0004c0006t0002g0172 a0004c0006t0002g0173	3	107	0.0280	818	c.284 others(837): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(811): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	193	0.0052	818	c.165 others(835): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPIRE2_chr16_89823475_89876319	89852310	T T	TGGCCCAT others(811): Show TGGCCCATCTTCCATCCTCCCCCCACTCCCCAGATCCCCTGGCCCATCTT CCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCCCACCCCCCAG ATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCC CATCTTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATC CTCTCCCCACCCACCAGATCCCCTGGCCCATCTTCCATCCTCCCCCACCC CCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCCTGGCCCATCTT CCATCCTCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCC CACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGA TCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCC ATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATC CTCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCC CCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCA TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTT CCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCGGATCCCAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	353	0.0028	818	c.645 others(835): Show c.645+1675_645+1676insTCCCCAGATCCCCTGGCCCATCTTCCAT CCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCA CCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCCCACCCCCCAGATCC CCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATC TTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT CCCCACCCACCAGATCCCCTGGCCCATCTTCCATCCTCCCCCACCCCCCA GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGC CCATCTTCCATCCTCTCCCCACCCACCAGATCCCCTGGCCCATCTTCCAT CCTCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACC CCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCC ATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCT TCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCA GATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGC CCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCAT CCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCA CCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCCCCAC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAACTC others(811): Show CAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTC ACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAG GCGGGAAGGGGACAGCAGAACTCACGGGGTGGGGCGGGAAGGGGACAGTA GAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTG GGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGAC AGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGT GGGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0021 a0003c0011t0021	a0003c0011t0021g0139 a0003c0011t0021g0139	1	174	0.0057	818	c.299 others(835): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCCCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGC TGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCT CTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCCGTGA GTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGTTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(811): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTC CCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTA CCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTC CCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCC CCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCC CCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	82	0.0122	818	c.-25 others(837): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTC CCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCC CCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTC CTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATC CCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(811): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTC CCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTA CCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTC CCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCC CCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCC CCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0083 a0001c0013t0001g0083	1	82	0.0122	818	c.-25 others(837): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTC CCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCC CCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTC CTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATC CCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2419018	C C	CCCTTCCC others(811): Show CCCTTCCCTTCCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCT CCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACC TCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCC TACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACC TCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTC CTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCT CCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCCTCCTTCCCT TCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCCC ACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCC TCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTCTCCTT CCCTCCCTCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTTC CCTCCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCC CTCTCCTTCCCTCTCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCC CTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCTGTTTCCTT TCCTCTCTCCCTTTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCT CCCGCCCTCTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0001 a0012c0018t0002g0001	1	3	0.3333	818	c.215 others(835): Show c.2154+882_2154+883insTTCCCTTCCCTCCCTCCCTTTCCTTTCC TTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTTC CCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCC CTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTC CTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTC CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCT TCCCTCCCCCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC CACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCC TCTCTCTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCT TCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCCCTCCCTC CCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTT CCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTCCCTCCCTCC CTTTCCTTCCCTCTCCTCCCTCTCCTTCCCTCTCCTCCCTCCCTCCCTTT CCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTT CCCTTCCCTCTGTTTCCTTTCCTCTCTCCCTTTCCTTCCCTTCCCTCCCT CCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRAF6_chr11_36478769_36515272	36507379	T T	TACGTATA others(811): Show TACGTATATATACATGTATTATACATACATAAATGTATATACGTATATAT ACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTAT ACATACATAAATGTATATACGTATATATACATGTATTATACATACATAAA TGTATATACGTATATATACATGTATTATACATACATAAATGTATATACGT ATATATACATGTATTATACATACATAAATGTATATACGTATATATACATG TATTATACATACATAAATGTATATACGTATATATACATGTATTCTACATA CATAAATGTATATACGTATATATACATGTATTATACATACATAAATGTAT ATACGTATATATACATGTATTATACATACATAAATGTATATACGTATATA TACATGTATTATACATACGTAAATGTATATATACATTATACATACGTAAA TGTATATATGTATATATACATTATACATACGTAAATGTATATATGTATAT ATACATTATACATACGTAAATGTATAATGTATATATACATTATACATACG TAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATATATGTATATATACATTATACAT ACGTAAATGTATATATGTATATATACATTATACATACGTAAATGTATATA TGTATATATACATTATACATACGTAAATGTATTATACATAAATGTATATA TGTATATATACATGTATTATACATACATAAATGTATATATGTATATATAC ATGTATTATACATACATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	361	0.0028	818	c.-23 others(835): Show c.-23+2668_-23+2669insTTATGTATGTATAATACATGTATATATA CATATATACATTTATGTATGTATAATACATGTATATATACATATATACAT TTATGTATAATACATTTACGTATGTATAATGTATATATACATATATACAT TTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAAT GTATATATACATATATACATTTACGTATGTATAATGTATATATACATTAT ACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTAT AATGTATATATACATTATACATTTACGTATGTATAATGTATATATACATA TATACATTTACGTATGTATAATGTATATATACATATATACATTTACGTAT GTATAATGTATATATACATTTACGTATGTATAATACATGTATATATACGT ATATACATTTATGTATGTATAATACATGTATATATACGTATATACATTTA TGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTAGAA TACATGTATATATACGTATATACATTTATGTATGTATAATACATGTATAT ATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATATA CATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTAT GTATAATACATGTATATATACGTATATACATTTATGTATGTATAATACAT GTATATATACGTATATACATTTATGTATGTATAATACATGTATATATACG TATATACATTTATGTATGTATAATACATGTATATATACGT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(811): Show ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCCACACACCCCACACACCACACACACA CCACACACACATCACATACCACACACAAACCACACACCCTACACGCACCA CACACCCCACACACACCACACACCCGACACACGCCACACACACACCACAC ACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACC CCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	35	0.0286	818	c.35 others(837): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCCACACACCCCACACA CCACACACACACCACACACACATCACATACCACACACAAACCACACACCC TACACGCACCACACACCCCACACACACCACACACCCGACACACGCCACAC ACACACCACACACCCCACGCACACATCACATACCACACACAAACCACACA CCCTACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871159	C C	CCCCACAC others(811): Show CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACA CCCCACACACACCACACAAACCACACACCCTACACACCCCACACACACCA CACACACACATCACATACCACACACACATCACATACCACACACAAACCAC ACACCACACACACACCACACACCCCACACACACATCACATACCACACACA AACCACACACCCAACACACACATCACACACCACACACCCCACACACACAT CACATACCACACACAAACCACACACCCTACACACACCACACACCCCACAC ACACATCACACACCACACACACCACACACACCCCACACACACCACACACA CACATCACATACCACACACCCGACACACGCCACACACACACCACACACCC CACGCACACATCACATACCACACACAAACCACACACCCTACACACACCAC ACACCCCACACACACCACACACACACACCACACACACATCACATACCACA CACAAACCACACACCCCCACACACCCCACACACCCCACACACACCACACA CCCCACACACACACCACACACCCCACACACACATCACATACCACACACAA ACCACACACCCCACACACCCCACACACCACACACACACCACACACACATC ACATACCACACACAAACCACACACCCTACACGCACCACACACCCCACACA CACCACACACCCGACACACGCCACACACACACCACACACCCCACGCACAC ATCACATACCACACACAAACCACACACCCTACACACCCCACACACCCCAC ACACACCACACACCACACA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	336	0.0030	818	c.35 others(837): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCACACACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCCACACACCCCACACAC CACACACACACCACACACACATCACATACCACACACAAACCACACACCCT ACACGCACCACACACCCCACACACACCACACACCCGACACACGCCACACA CACACCACACACCCCACGCACACATCACATACCACACACAAACCACACAC CCTACACACCCCACACACCCCACACACACCACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(811): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATATATTATTATATGTTATTATATATAATA TAATATATATTATTATATGTTATTATATATAATAATATAATATATATTAT TATATGTTATTATATATAATAACATATTATATATTATGTTATTATATATA ATAACATAATATATATTATATGTTATTATATATAATAACATAATATATAT TATTATATGTTATTATATATAATAACATAATATATATTATTATATGTTAT TATATATAATAACATAATATATATTATTATATGTTATTATATATAATAAC ATAATATATATTATTATATGTTATTATATATAATAACATAATATATATTA TTATATGTTATTATATATAATAATATAATATATATTATTATATGTTATTA TATATAATAATATAATATATATTATTATATGTTATTATATATAATAATAT ATATTATATTATTATATGTTATTATATATAATAATATAATATATATTATT ATATGTTATTATATATAATATATATTATATTATATATAATAATATAATAT ATATTATATTATTATATATAATAATATAATATATATTATTATATATTATA TATTATTATATATAATATATATATAATTATATTATTATATATTATTATAT ATAATATATATAATTATATATATATTATTATATATATATATATATAATTA TATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0208 a0002c0003t0002g0208	1	99	0.0101	818	c.392 others(835): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATATATATATAATAATATATATATAATTATATATATTATATATAATAA TATATAATAATATAATTATATATATATTATATATAATAATATATAATATA TAATAATATATATTATATTATTATATATAATAATATAATATATATTATAT TATTATATATAATATAATATATATTATATATAATAACATATAATAATATA TATTATATTATTATATATAATAACATATAATAATATAATATATATTATTA TATATAATAACATATAATAATATATATTATATTATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATATA TTATGTTATTATATATAATAACATATAATAATATATATTATGTTATTATA TATAATAACATATAATAATATATATTATGTTATTATATATAATAACATAT AATAATATATATTATGTTATTATATATAATAACATATAATAATATATATT ATGTTATTATATATAATAACATATAATATATATTATGTTATTATATATAA TAACATAATATATAATATGTTATTATATATAATAACATATAATAATATAT ATTATATTATTATATATAATAACATATAATAATATATATTATATTATATA TAATAACATATAATAATATATATTATTATATATAATAACATATAATAATA TATATTATATTATTATATATAATAACATATAATAATATATATTATATTAT TATATATAATAACATATAATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(811): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19088.hp1 NA18957.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0002 a0001c0001t0002 a0003c0005t0002	a0001c0001t0002g0116 a0003c0005t0002g0079 a0001c0001t0002g0116 a0003c0005t0002g0079	2	106	0.0189	818	c.82+ others(833): Show c.82+5644_82+5645insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(811): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATACATGTTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	105	0.0095	818	c.82+ others(833): Show c.82+5644_82+5645insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATACAT GTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(811): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTT ATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTT ATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATA TTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18986.hp1 NA19012.hp1 HG02135.hp1 NA18986.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0075 a0001c0001t0004g0091 a0001c0001t0006g0093 a0001c0001t0004g0075 a0001c0001t0004g0091 a0001c0001t0006g0093	3	26	0.1154	818	c.82+ others(833): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATT TATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATA TATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAA TATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAA TATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAA TACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAA TACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTA TAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAG TTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(811): Show CCTCCTCTGTCCTCCCCTCCCCTCCTCTCTCCTCCTCTCTCCTCCCTTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCCTCCCCTCCCCTCCTCTCTCCTCCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCCTCCCC TCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCC GCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCC TCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCT CCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCT CCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCCTCCCTTCCCCTCTCC TCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCT TCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCC TCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTC TCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCC TCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTT TCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0075 a0001c0004t0004g0075	1	2	0.5000	818	c.53 others(829): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGG AGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGG AGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAG AGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGG GGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGG GGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGA GGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGAGAGAGG AGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGGAGGAGAGAG GAGGGGAGGGGAGGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGA GGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAAGGGAGGAGAGA GGAGGAGAGAGGAGGGGAGGGGAGGACAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar

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