Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MICAL3_chr22_17782649_18029561	17876881	T T	TAGGGAAG others(443): Show TAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGG AGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAGGTGAGGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGA GGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTA TGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTGAGGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGT G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0021 a0001c0015t0021	a0001c0015t0021g0095 a0001c0015t0021g0095	1	274	0.0037	450	c.224 others(469): Show c.2242-4859_2242-4858insCACCTCCATAACCTCCCTCACCTCCA TAACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACC TCCCTCACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCT AACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCT CCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTC ACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTC CCTCACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTCACCTCCATAA CCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAAC CTCCCTAACCTCCATAACTTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877171	G G	GGGAGGTT others(443): Show GGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTACGGAGGTGAGGGAGG TTATGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGG GAGATTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGT TAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGG AGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTT AGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGA GGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTA T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0151 a0004c0007t0003g0151	1	274	0.0037	450	c.224 others(469): Show c.2242-5149_2242-5148insATAATCTCCCTAACCTCCATAACTGC CATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAA CTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCT TAACCTCCCTAACCTCCATAATCTCCCTAACCTCCCTAACCTCCCTCACC TCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCGTAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATA ACCTCCCTCACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877189	T T	TGGAGGTT others(443): Show TGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGT TATGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTA G	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0144 a0006c0011t0001g0144	1	274	0.0037	450	c.224 others(469): Show c.2242-5167_2242-5166insCTAACCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAAC CTCCATAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCA TAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCAT AAGCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCT CCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATA ACTTCCCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877207	T T	TGGAGGTT others(443): Show TGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTA G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0102 a0003c0004t0004g0102	1	274	0.0037	450	c.224 others(469): Show c.2242-5185_2242-5184insCTAACCTCCATAACTTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877396	G G	GGGAGGTT others(443): Show GGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAT GGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAG TTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGA AGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTA T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	274	0.0037	450	c.224 others(469): Show c.2242-5374_2242-5373insATAACCTCCATAACCTCCCTCACCTC CATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAA CCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC TTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAACCT CCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTC ACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877499	G G	GGTTATGG others(443): Show GGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTA GGGAGGTTAGGGAAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGA A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0027 a0027	a0027c0068 a0027c0068	a0027c0068t0002 a0027c0068t0002	a0027c0068t0002g0065 a0027c0068t0002g0065	1	274	0.0037	450	c.224 others(469): Show c.2242-5477_2242-5476insTTCCCTAACCTCCCTAACCTCCCTCA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAAC TTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACC TCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCAT AACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTC ACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTCACCTCCCTAACCTC CCTAACCTCCCTAACCTCCATAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MSH3_chr5_80649652_80881815	80693360	G G	GATAAATA others(443): Show GATAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGCA CATGTATATGTTTATATAGATAAATATACATGCACATGTATATGTTTAGA TAAATATGCACATGTATATGTTTAGATAAATATGCACATGTATATGTTTA GATAAATATACATGCACATGTATGTGTTTAGATAAATATACATGCACATG TATGTGTTTAGATAAATATACATGCACATGTATATGTTTATATAGATAAA TATACATGCACATGTATATGTTTATATAGATAAATATACATGCACATGTA TGTTTATATAGATAAATATACATGCACATGTATATGTTTATATAGATAAA TATACATGCACATGTATATGTTTATATAGATAAATATACATGCACATGTA TATGTTTATATAGATAAATATACATGCACATGTATATGTTTATATAGATA A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0003 a0002c0003t0003g0003	1	362	0.0028	450	c.134 others(471): Show c.1340+14270_1340+14271insAATATACATGCACATGTATATGTT TATATAGATAAATATACATGCACATGTATATGTTTATATAGATAAATATA CATGCACATGTATATGTTTAGATAAATATGCACATGTATATGTTTAGATA AATATGCACATGTATATGTTTAGATAAATATACATGCACATGTATGTGTT TAGATAAATATACATGCACATGTATGTGTTTAGATAAATATACATGCACA TGTATATGTTTATATAGATAAATATACATGCACATGTATATGTTTATATA GATAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCACA TGTATATGTTTATATAGATAAATATACATGCACATGTATATGTTTATATA GATAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGCA CATGTATATGTTTATATAGATAAATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MTTP_chr4_99569824_99628997	99588815	A A	ACATATAT others(443): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAC ACACATATATATGTTCATATATATACACACATATATATGTTCATATATAT TCATATATATATGTTCATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATTCATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT T	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19005.hp1 NA18973.hp2 NA19005.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0014 a0003c0003t0001g0014	2	364	0.0055	450	c.394 others(465): Show c.394-819_394-818insGTTCATATATATACACACATATATATGTTC ATATATATACACACATATATATGTTCATATATATACACACATATATATGT TCATATATATTCATATATATATGTTCATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATTCATATATATGTTCATATAT ATATTCATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588927	A A	ACATATAT others(443): Show ACATATATATGTTCATATATATTCATATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18952.hp1 NA18939.hp1 NA18952.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0172 a0003c0003t0001g0264 a0003c0003t0001g0172 a0003c0003t0001g0264	2	364	0.0055	450	c.394 others(465): Show c.394-707_394-706insGTTCATATATATTCATATATATATGTTCAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUC4_chr3_195741771_195816929	195767530	G G	GCCACCAC others(443): Show GCCACCACCATCATCACCATCACCATCACCACCACCATCATCACCACCAT CACCACCACCACCATCATCACCATCACCACCACCATCACCATCACCACCA CCATCACCATCACCACCACCATCGCCACCACCATCATCACCATCACCATC ACCACCACCATCATCACCACCATCACCACCACCACCATCATCACCATCAC CATTACCATTGCCACCACCATCACCACCACCATCACCACCACCACCATCA TCACCATCACCACCACCATCACCATCACCACCATCATCACCATCACCACC ACCATCACCATCACCACCATCATCACCATCACCACCACCATCACCATCAC CACCACCATCACCATCACCACCACCATCACCATCACCACCACCATCGCCA CCACCATCATCACCATCACCATCACCACCACCATCATCACCACCATCACC A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0095 a0001c0095	a0001c0095t0001 a0001c0095t0001	a0001c0095t0001g0080 a0001c0095t0001g0080	1	249	0.0040	450	c.135 others(469): Show c.13530-780_13530-779insTGGTGATGGTGGTGATGATGGTGGTG GTGATGGTGATGGTGATGATGGTGGTGGCGATGGTGGTGGTGATGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTG ATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGGT GGTGATGGTGGTGGCAATGGTAATGGTGATGGTGATGATGGTGGTGGTGG TGATGGTGGTGATGATGGTGGTGGTGATGGTGATGGTGATGATGGTGGTG GCGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGT GATGGTGATGATGGTGGTGGTGGTGATGGTGGTGATGATGGTGGTGGTGA TGGTGATGGTGATGATGGTGGTGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776280	C C	CCTTACCT others(443): Show CCTTACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACGGCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCAACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACGGCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGG CCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATATCTTCCACAG T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0085 a0085	a0085c0146 a0085c0146	a0085c0146t0004 a0085c0146t0004	a0085c0146t0004g0233 a0085c0146t0004g0233	1	249	0.0040	450	c.129 others(471): Show c.12944-1976_12944-1975insACTGTGGAAGATATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGCCGTGGAA GGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTTGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGATGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGACTGTGGAAGGTATGGCCGTGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTAAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776426	A A	ACAGTCAT others(443): Show ACAGTCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACC CTTACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGGTCATAC CTTCCACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCC GCACCCATACCATCCGCACCCATACCTTCCGCACCCATACCTTCCACGGC CATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCCATAC CTTCCACACCCTTACCTTCCACACCCTTACCTTCCACACCCATACCTTCC ACGGCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACC CATACCTTCCACACCCATACCTTCCGCACCCATACCTTCCACAGTCATAC CTTCCACACCCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTCC G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0085 a0085	a0085c0146 a0085c0146	a0085c0146t0004 a0085c0146t0004	a0085c0146t0004g0233 a0085c0146t0004g0233	1	249	0.0040	450	c.129 others(471): Show c.12943+1876_12943+1877insCGGAAGGTATGACTGTGGAAGGTA TGGGTGCGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGT GCGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGA AGGTATGACTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTA AGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGT GTGGAAGGTATGGCCGTGGAAGGTATGGCCGTGGAAGGTATGGGTGCGGA AGGTATGGGTGCGGATGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTA TGGGTGCGGAAGGTATGGGTGTGGAAGGTATGACCGTGGAAGGTATGGCC GTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGA AGGTATGACTGTGGAAGGTATGACTG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776880	C C	CCATACCT others(443): Show CCATACCTTCCACAGTCATACCTTCCGCACCCATACCTTCCACACCCATA CCTTCCGCACCCATACCTTCCGCAGTCATACCTTCCGCACCCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAT CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTC CACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCACACCCTTACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAG T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0088 a0088	a0088c0156 a0088c0156	a0088c0156t0002 a0088c0156t0002	a0088c0156t0002g0023 a0088c0156t0002g0023	1	249	0.0040	450	c.129 others(471): Show c.12943+1422_12943+1423insACTGTGGAAGGTATGACTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTG TGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAA GGTATGGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTATGGATGCGGAAGGTATGGGTGCGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GACTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTG CGGAAGGTATGACTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776984	C C	CCCATACC others(443): Show CCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACATCCAT ACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCACATCCATACCTTCCACAGTCATACCTTCCACA CCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACGGCCATGCCTTCCACACCCATACCTTCCACACCCTTACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCTTACCTT CCACACCCATACCTTCCACGGCCATACCTTCCACAGTCATACCTTCCACG G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0099 a0099	a0099c0145 a0099c0145	a0099c0145t0008 a0099c0145t0008	a0099c0145t0008g0055 a0099c0145t0008g0055	1	249	0.0040	450	c.129 others(471): Show c.12943+1318_12943+1319insCCGTGGAAGGTATGACTGTGGAAG GTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAAGACTGTGGAAGGTATG GGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGT GGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAG GTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATG GGTGTGGAAGGCATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGT GGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAG GTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATG GGTGTGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGGATGT GGAAGGTATGGGTGTGGAAGGTATGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777587	A A	ATACCTTC others(443): Show ATACCTTCCACAGTCATACCTTCCACACCCATAACTTCCACAGTCATACC TTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCA CATCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCATACC TTCCACGGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCA CACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACATCCATACCTTCCACAGTCATACCTTCCACACCCATACC TTCCACATCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCA CACCCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCC T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03540.hp2 HG01884.hp2 HG03540.hp2	a0021 a0021	a0021c0190 a0021c0191 a0021c0190 a0021c0191	a0021c0190t0004 a0021c0191t0005 a0021c0190t0004 a0021c0191t0005	a0021c0190t0004g0241 a0021c0191t0005g0244 a0021c0190t0004g0241 a0021c0191t0005g0244	2	249	0.0080	450	c.129 others(469): Show c.12943+715_12943+716insAGGGTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGCCGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGACCGTGGAAGGTATGGCCGTGGAAGGTATGGGTG TGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGTTATGGGTG TGGAAGGTATGACTGTGGAAGGTA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MVP_chr16_29815462_29853021	29843546	A A	AAGGGAGG others(443): Show AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGTGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGA GGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGA GTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAG GGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGG GAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGG G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	230	0.0044	450	c.163 others(467): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGAAGGGAGGGAGG GAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAG GGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGG AAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGAAGGGAGGAAGGG AGGAAGGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGG AGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGA AGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGA GGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAG GAAGGGAGGGAGGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(443): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCT CCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTC TTTCCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTTT C	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0057 a0001c0023t0003g0057	1	104	0.0096	450	c.153 others(467): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAG GGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGA GAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAG AGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGG GAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAG GAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAA GGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGG GGAGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64176145	G G	GTAGTTGT others(443): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	223	0.0045	450	c.-99 others(469): Show c.-99+11441_-99+11442insCAGCATCTTTCCCTGTAGTTGTGTCC ATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTG TCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTG TCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTG TCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTG TCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTG TCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTG TCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTG TCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCC ATTTCCCCTCCCTGGCTTCTCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64176280	C C	CCTGCAGC others(443): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0157 a0001c0001t0013g0157	1	223	0.0045	450	c.-99 others(469): Show c.-99+11543_-99+11544insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTCCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGT TGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGT TGTGTCCATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64176280	C C	CCTGCAGC others(443): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	223	0.0045	450	c.-99 others(469): Show c.-99+11543_-99+11544insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(443): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGC CCTCCGCTCAGTCCACTTCCAGCCTCTCCAGGCCCCCTCCCTCAGTCCCA GTGCTCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCGTGCACAGCCC TCTCCACCCGGCCCTACCCTCAGTCCCAGTGCTCACAGCCTTCCTTCCAC CCGGCCCTCCTCGATCCATGCCAGCCCTACACCAGACCCCCTCCCTCAGC CCACCACGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	439	0.0023	450	c.28 others(461): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCCTTCCACCCGCCCTCCGCTCAGTCCACTTCCAGCCTCTCCAGGCCC CCTCCCTCAGTCCCAGTGCTCTCAGCCCTCTCCACCCGGCCCTCCCTCAG TCCCGTGCACAGCCCTCTCCACCCGGCCCTACCCTCAGTCCCAGTGCTCA CAGCCTTCCTTCCACCCGGCCCTCCTCGATCCATGCCAGCCCTACACCAG ACCCCCTCCCTCAGCCCACCACGCCCCTTCCACCCGGCCCTCCCTCAGTC CCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(443): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACA TACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATAC TGTATATATACACTATACAGTATGTATACTGTATATATACACTATACAGT A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0202 a0001c0002t0003g0202	1	362	0.0028	450	c.-75 others(469): Show c.-75+17711_-75+17712insTACTGTATAGTGTATATATACAGTAT ACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTA TACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATAC ACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACATACAGTATACATACATACAGTATACATACATACAGTATACATGCTG TACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(443): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTA TGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATAC ATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTATA CTGTATATATACACTATACAGTATGTATACTGTATATATACACACAGTAT GTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGT A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0186 a0001c0003t0002g0186	1	362	0.0028	450	c.-75 others(469): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATAT ACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCA GTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACATACAGTATACATAC ATACAGTATACATACATACAGTATACATGCTGTACACAGTATACATGCTG TACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571082	T T	TGTGTGTG others(443): Show TGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGC CTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCG TGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCT GGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCT AGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	450	c.26 others(461): Show c.2663_*2664insGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTG GCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGG CTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTAT GTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT GGCTAGCCTGGCGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1588		chr16	TogoVar
NINL_chr20_25447697_25590531	25562188	G G	GCCCGGCC others(443): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCCGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGGCCAGCCACCCCATCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGTCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCC CCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGGGGGGGGTCAGCCCCCC A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	310	0.0032	450	c.-12 others(469): Show c.-12+23266_-12+23267insTGGGGGGCTGACCCCCCCCACCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCAACCAGCCTCCT GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCTG GACGGGACGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGCAG GGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCGGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NKX1-1_chr4_1397932_1411442	1398075	G G	GCAGGGTG others(443): Show GCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGG GTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTT TTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGG GCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATC TGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGAT GTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGTGGG TAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGAT CAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGT TGGATGCCGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	382	0.0026	450	c.48 others(461): Show c.4856_*4857insTATCCAACCTGATCTACTCACATCCAGATGCCCG AAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAAC ACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCT GCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGCATC CAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACC TGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATC TACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTC ACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATC CAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGAT GCCCGAAAACACCCTG	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4856		chr4	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(443): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGG T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	356	0.0028	450	c.91+ others(463): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(443): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03492.hp1 HG02886.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0153 a0001c0003t0002g0003 a0001c0001t0003g0153 a0001c0003t0002g0003	2	170	0.0118	450	c.175 others(471): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108163992	G G	GGGGTAAT others(443): Show GGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGA GAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGT GGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC TGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGA GAGGTCATACCAGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGG TGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATA CCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGTGGGGTAATG AGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGG T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0104 a0001c0003t0004g0104	1	208	0.0048	450	c.346 others(469): Show c.3466+2928_3466+2929insACCCCACCCAGTATGACCTCTCACTA CCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCACCCAGTATGA CCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCA CCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTA CCGCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCCGGTATG ACCTCTCATTACCCCACCCCACCCAGTATGACCTCTCACTACCCCACCCC ACCTGGTATGACCTCTCATTACCCCACCCCACCCAGTATGACCTCTCACT ACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCCGGTATG ACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCC ACCTGGTATGACCTCTCATTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRIP1_chr21_14956235_15070000	15031053	T T	TACATTCC others(443): Show TACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCACGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTTGGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTGTGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCAC CACATTCCCTTTCTATGTATATACACTCTGGAAGGCGGTTGGAGGTTCAC C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02300.hp1 HG02486.hp1 others(5): Show HG01099.hp1 HG02300.hp1 HG02486.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0024 a0001c0001t0038 a0001c0001t0010 a0001c0001t0024 a0001c0001t0038	a0001c0001t0010g0012 a0001c0001t0010g0366 a0001c0001t0010g0367 others(4): Show a0001c0001t0010g0012 a0001c0001t0010g0366 a0001c0001t0010g0367 a0001c0001t0010g0368 a0001c0001t0010g0371 a0001c0001t0024g0369 a0001c0001t0038g0172	8	398	0.0201	450	c.-45 others(471): Show c.-458+12441_-458+12442insGGTGAACCTCCAACCGCCTTCCAG AGTGTATATACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAG AGTGTATACACACAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCACCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTGGTGATCCTCCGTGCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(443): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCT CCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTC C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0190 a0001c0001t0068g0190	1	326	0.0031	450	c.433 others(467): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(443): Show GGGGAGGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAG AGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGG AGAGAGGGAGAGGGAGGGGAGGGGGGGAGAGGGAGGGGAGGGGGAGAGGG GGGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGAGCAGGGAA GGAGGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGG AGGGAGAGGGAGAGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGAT GGGGGAGGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGG AGAGGGACAGGGGGAGGGAGAAAGGAGAGGGAGAGGGGGAGGGAGAGGGG GGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0297 a0001c0002t0001g0297	1	386	0.0026	450	c.92 others(461): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTTCTC CCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTC TCCCTCCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCT CTCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTC TCCCTCTCCCTCCCTCCTTCCCTGCTCCTCTCCCTCCCTCCCCTCCCACC CCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCCTCC CCTCCCTCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTC CCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTC TCCCTCCCCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
OLFML1_chr11_7480506_7516377	7491711	C C	CAATACAC others(443): Show CAATACACATTTACTACCTCAGAGTTTCTGTGGGTCAGGAGTCCATGCAT GGCTTAGTCTCTATCTAGGAGTAGACTTTGGAATGTCAATTTATTCCCGT TAGGCACTGTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCC ATTTCTGTTAGTAACTATGCCTATATCGGTTCTCATGCTATACAACAAAT TACCATAGATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTT TCTGTGGGTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGAC TTTGGAATGTCAACTTATTCCCGTTAGGCACTGTTTTGTATTGTATATAT TATGCACACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATAT CGGTTCTCATGCTATACAACAAATTACCATAGATTTAGCATCTTAAAACA A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0141 a0006c0007t0001g0142 a0006c0007t0001g0141 a0006c0007t0001g0142	2	388	0.0052	450	c.418 others(467): Show c.418+3296_418+3297insAATACACATTTACTACCTCAGAGTTTCT GTGGGTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGACTTT GGAATGTCAATTTATTCCCGTTAGGCACTGTTTTGTATTGTATATATTAT GCACACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATATCGG TTCTCATGCTATACAACAAATTACCATAGATTTAGCATCTTAAAACAATA CACATTTACTACCTCAGAGTTTCTGTGGGTCAGGAGTCCATGCATGGCTT AGTCTCTATCTAGGAGTAGACTTTGGAATGTCAACTTATTCCCGTTAGGC ACTGTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCCATTTC TGTTAGTAACTATGCCTATATCGGTTCTCATGCTATACAACAAATTACCA TAGATTTAGCATCTTAAAACAA	OLFML1	ENSG00000183801.8	transcript	ENST00000329293.4	protein_coding	2/2			chr11	TogoVar
OR1F1_chr16_3183204_3211556	3197778	G G	GGAGGGAG others(443): Show GGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGG AGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAG AGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAG GGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGG A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	328	0.0031	450	c.-12 others(467): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3197778	G G	GGAGGGAG others(443): Show GGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAGGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGG AGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAG AGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAG GGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGG A	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18998.hp2 HG00323.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0026 a0001c0001t0003 a0002c0002t0026	a0001c0001t0003g0191 a0002c0002t0026g0160 a0001c0001t0003g0191 a0002c0002t0026g0160	2	328	0.0061	450	c.-12 others(467): Show c.-12-6365_-12-6364insGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3197989	A A	AGGAGAGG others(443): Show AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG04204.hp2 NA18963.hp1 others(2): Show HG00673.hp1 HG04204.hp2 NA18963.hp1 NA18993.hp2 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0028 a0002c0002t0004 a0002c0002t0028	a0002c0002t0004g0016 a0002c0002t0004g0123 a0002c0002t0004g0147 others(1): Show a0002c0002t0004g0016 a0002c0002t0004g0123 a0002c0002t0004g0147 a0002c0002t0028g0064	5	328	0.0152	450	c.-12 others(467): Show c.-12-6235_-12-6234insGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950450	C C	CACGCACA others(443): Show CACGCACATACATACTGGCACACACGTACACACACATGCACACATGAGCA CATGTGCACACATGCACATACATACTGGCACACACGTACACACACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACA CACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACACACATGCACACGTGAGCACATGTGTACACATGCACATACA TACTGGCACACACGTACACGCACACGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACATGTACACACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	350	0.0029	450	c.-29 others(461): Show c.-2953_-2952insACGCACATACATACTGGCACACACGTACACACAC ATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACACACACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACACACATGCACACGTGAGCACATGTGT ACACATGCACATACATACTGGCACACACGTACACGCACACGAGCACATGT GCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACATGTACACACACGCACACAT GAGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACAC ATGAGCACATGTGCAT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2789		chr16	TogoVar
OSTF1_chr9_75083514_75152265	75139057	T T	TCTTTCTT others(443): Show TCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0284 a0001c0001t0005g0284	1	366	0.0027	450	c.487 others(467): Show c.487+1441_487+1442insCTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTC	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9			chr9	TogoVar
OTOF_chr2_26452203_26563756	26476649	T T	TCCCCACC others(443): Show TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCACCCCTTCCCCCAC CCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACTCCTTCCCCACCCTTC CCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCACCTCCTTCCC CACCCCTTCCCCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCA CCCCTTCCCCCACCTCCTTCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACCCCTTCCCCCACCCCTTCCCCACCTCCTTCCCCACCCCTT C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0001 a0004c0023t0001	a0004c0023t0001g0236 a0004c0023t0001g0236	1	284	0.0035	450	c.267 others(467): Show c.2676+241_2676+242insGAAGGGGTGGGGAAGGAGGTGGGGAAGG GGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGAAGGACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGGG AAGGGGTGGGGAAGGAGGTGGGGGAAGGGTGGGGAAGGAGTGGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(443): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18990.hp1 NA18993.hp2 others(1): Show NA18941.hp1 NA18990.hp1 NA18993.hp2 NA19058.hp2	a0001 a0005 a0033 a0001 a0005 a0033	a0001c0001 a0005c0085 a0033c0020 a0001c0001 a0005c0085 a0033c0020	a0001c0001t0001 a0005c0085t0001 a0033c0020t0001 a0001c0001t0001 a0005c0085t0001 a0033c0020t0001	a0001c0001t0001g0186 a0005c0085t0001g0184 a0033c0020t0001g0183 others(1): Show a0001c0001t0001g0186 a0005c0085t0001g0184 a0033c0020t0001g0183 a0033c0020t0001g0185	4	268	0.0149	450	c.292 others(465): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(443): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0017 a0017	a0017c0094 a0017c0094	a0017c0094t0001 a0017c0094t0001	a0017c0094t0001g0217 a0017c0094t0001g0217	1	268	0.0037	450	c.292 others(465): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(443): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0226 a0001c0003t0001g0226	1	268	0.0037	450	c.292 others(465): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(443): Show CCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0009 a0009	a0009c0073 a0009c0073	a0009c0073t0001 a0009c0073t0001	a0009c0073t0001g0241 a0009c0073t0001g0241	1	268	0.0037	450	c.292 others(465): Show c.292+493_292+494insTCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PALLD_chr4_168492052_168933441	168738666	G G	GGTGATCC others(443): Show GGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGTGTGAG CCACCGTGCCCAACCAGTGTTCTCTCTACTTTTCTTTTCTTACTGCTACC ACCCTGTTGTAGGCCTGGACATCTCACTTCTAAGTGCTCCACAACATCTA AACTGATCTTTCTCCCTTCAGTGTCTCCCCATGTTAATCCTTCTTAAACT CTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTGAGACGGAGTCTCGCTCT GTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCCGCTCACTGCAAGCTCC GCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCT C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0094 a0002c0003t0009g0094	1	156	0.0064	450	c.196 others(471): Show c.1964+26750_1964+26751insACCCACCTCGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCAACCAGTGTTCTCTCTACTTT TCTTTTCTTACTGCTACCACCCTGTTGTAGGCCTGGACATCTCACTTCTA AGTGCTCCACAACATCTAAACTGATCTTTCTCCCTTCAGTGTCTCCCCAT GTTAATCCTTCTTAAACTCTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT GAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCT CCGCTCACTGCAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCA GCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168738666	G G	GGTGATCC others(443): Show GGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGTGTGAG CCACCGTGCCCAACCAGTGTTCTCTCTACTTTTCTTTTCTTACTGCTACC ACCCTGTTGTAGGCCTGGACATCTCACTTCTAAGTGCTCCACAACATCTA AACTGATCTTTCTCCCTTCAGTGTCTCCCCATGTTAATCCTTCTTAAACT CTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTGAGACGGAGTCTCGCTCT GTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGTCTAATTTTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCT C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0006 a0007c0016t0006	a0007c0016t0006g0103 a0007c0016t0006g0103	1	156	0.0064	450	c.196 others(471): Show c.1964+26750_1964+26751insACCCACCTCGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCAACCAGTGTTCTCTCTACTTT TCTTTTCTTACTGCTACCACCCTGTTGTAGGCCTGGACATCTCACTTCTA AGTGCTCCACAACATCTAAACTGATCTTTCTCCCTTCAGTGTCTCCCCAT GTTAATCCTTCTTAAACTCTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT GAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCA GCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGTCTAAT TTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(443): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GCATATATATACATATATGTGTGCATATATATACATATATATGTGTGCAT ATATATACATATATGTGTGCATATATATACATATATATGTGTGCATATAT ATACATATATATGTGTGCATATATATACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0027 a0002c0007t0004g0027	1	156	0.0064	450	c.196 others(471): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGCATATATATACATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATAT ATACATATATATGTGTGCATATATATACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCBP3_chr21_45638725_45947450	45746270	T T	TTGTCAGC others(443): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCA TTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGAC GTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGC GCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACA CGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTG G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	292	0.0034	450	c.-16 others(469): Show c.-161-9103_-161-9102insGTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAG TCCATTGACGTAGCGCACACGGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746360	T T	TTGTCAGC others(443): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCA TTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGAC GTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGC GCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACA CGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTG G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	292	0.0034	450	c.-16 others(469): Show c.-161-9013_-161-9012insTTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAG TCCATTGACGTAGCGCACACGGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(443): Show GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCATC GTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCATC GTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCTCACCCCATCATCACCCCTCACAGCCCACCCCATC A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0014 a0002c0018t0014	a0002c0018t0014g0031 a0002c0018t0014g0031	1	336	0.0030	450	c.269 others(469): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGAT GATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDXK_chr21_43714129_43767299	43741222	C C	CGGGGGGG others(443): Show CGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTGGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGC G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0094 a0001c0001t0093g0094	1	358	0.0028	450	c.143 others(465): Show c.143-439_143-438insGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGG GGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCG GGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTGGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar

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