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
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(783): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATATATTATTATATGTT ATTATATATAATAATATATATTATTATATGTTATTATATATAATAATATA ATATATATTATTATATGTTATTATATATAATAACATATTATATATTATGT TATTATATATAATAACATAATATATATTATATGTTATTATATATAATAAC ATAATATATATTATTATATGTTATTATATATAATAACATAATATATATTA TTATATGTTATTATATATAATAACATAATATATATTATTATATGTTATTA TATATAATAACATAATATATATTATTATATGTTATTATATATAATAACAT AATATATATTATTATATGTTATTATATATAATAATATAATATATATTATT ATATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATA TATAATAATATATATTATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATATATATTATATTATATATAA TAATATAATATATATTATATTATTATATATAATAATATAATATATATTAT TATATATTATATATTATTATATATAATATATATATAATTATATTATTATA TATTATTATATATAATATATATAATTATATATATATTATATATATTATAT ATAATAATAATATATATAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19054.hp2 NA19070.hp2 NA18969.hp1 NA19054.hp2 NA19070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204	3	101	0.0297	790	c.392 others(807): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATATTATTATATATAATAACATAT AATAATATATATTATGTTATTATATATAATAACATATAATAATATATATT ATGTTATTATATATAATAACATATAATAATATATATTATGTTATTATATA TAATAACATATAATAATATATATTATGTTATTATATATAATAACATATAA TAATATATATTATGTTATTATATATAATAACATATAATATATATTATGTT ATTATATATAATAACATAATATATAATATGTTATTATATATAATAACATA TAATAATATATATTATATTATTATATATAATAACATATAATAATATATAT TATTATATATAATAACATATAATAATATATATTATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATATA TTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(783): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGTGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGAGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGA GGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGG AGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAG GGGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGAGG GGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAA GGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGA GGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGG GGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGG GAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGG GAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	72	0.0139	790	c.205 others(809): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTC CCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTGCCTT CCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCC CTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCC CCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTCCCTTCCCTCCCTCCC TCCCCTCACTTCTCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCT CACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCT TCCCTCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCACTCCCTCCCCTTCC CTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTTCCCTGCCTACCT CCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCCTCCTCTCCCTTCCCTT TCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCC CTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF627_chr19_11592483_11624161	11613151	C C	CCTCCTTC others(783): Show CCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTC CCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCATCCCCT TCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCCTCCCCTTCCCT CCTCCCTCCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCT CCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCC CCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCT CCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCCTTCCCTCCTCCCTCCC CTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCCCTCC CCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCTC CCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCC CCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCT CCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCC CTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCC CCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCC CTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	316	0.0032	790	c.4-1 others(803): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTC CCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCC CCCCCCTCCCCTTCCCTCCTCCCTCCCCCCCTCCCCTCCCCCTTCTTCCT CCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCT CCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCC TTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTT CCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCC CTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCC CCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTC CTCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTC CCTCCCCTCCCCTCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCC CCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTC CCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCC CATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGT CCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTC ACCTCCCT	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3			chr19	TogoVar
ADAMTS16_chr5_5135330_5325304	5305155	A A	ACACACAT others(784): Show ACACACATCCCACACCACACACACACACATCCCACACCACACACACATCC CACACCACACACACACACATCCCACACCACACACACACTTCCCACACCAC ACACACACACACTTCCCACACCACACACACACAAATCCCACACCAGACAC ACACACATCCCACACCACACACACACACCACACACACCACACCACAGACA CACACATCCCACACCACACACCCCCCACACACACACATCCCACACCACAC ACAGACATCCCACACCACACACACATCCCACACCACACACACACACATCC CGCACCACACACTCACACATCCCACACCACACATACACATCCCACACCAC ACACACATACCACACCACACACACACACATCCCACACCACACACACACAC ATCCCACACCACACACATCCACACCACACACACACACATCCCACACCAGA CACACACATCCCACACACACACACACATCCCACATCACACACACAATCAC AAACACACATCCCACACCACACACACATCCCACACCACACACACACATCC CACACACACACACACCCACCACACACACACACACATCCCACACCACACAC ACAATCCCACACCACACACACACACAATCCCACACCACACACACACATCC CATACCACACACACATCCCACGCCACACACACACACACACCCCACACCAC ACACACATCCCACACCACACACATCCACACCACACACACACATCCCACAC CACACATACACACACACATCCCATACCACACACATCCCACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0244 a0003c0017t0001g0244	1	240	0.0042	791	c.318 others(810): Show c.3187-1343_3187-1342insTCCCACACCACACACACACACATCCC ACACCACACACACATCCCACACCACACACACACACATCCCACACCACACA CACACTTCCCACACCACACACACACACACTTCCCACACCACACACACACA AATCCCACACCAGACACACACACATCCCACACCACACACACACACCACAC ACACCACACCACAGACACACACATCCCACACCACACACCCCCCACACACA CACATCCCACACCACACACAGACATCCCACACCACACACACATCCCACAC CACACACACACACATCCCGCACCACACACTCACACATCCCACACCACACA TACACATCCCACACCACACACACATACCACACCACACACACACACATCCC ACACCACACACACACACATCCCACACCACACACATCCACACCACACACAC ACACATCCCACACCAGACACACACATCCCACACACACACACACATCCCAC ATCACACACACAATCACAAACACACATCCCACACCACACACACATCCCAC ACCACACACACACATCCCACACACACACACACCCACCACACACACACACA CATCCCACACCACACACACAATCCCACACCACACACACACACAATCCCAC ACCACACACACACATCCCATACCACACACACATCCCACGCCACACACACA CACACACCCCACACCACACACACATCCCACACCACACACATCCACACCAC ACACACACATCCCACACCACACATACACACACACATCCCATACCACACAC ATCCCACACCACACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(784): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATAT ATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATA GTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTG TATATACTATATATATTTTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	30	0.0333	791	c.505 others(810): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACA GTATATATACTATACATAAAATATATATAGTACATGCAGTATATATACTA TACATAAAATATATATAGTACATGCAGTATATATACTATACATAAAATAT ATATAGTACATACTATACATAAAATATATATATAGTATATACAATGTACA TACTATACATAAAATATATATAGTACATACTATACATAAAATATATATAT AGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(784): Show GTACTATATATATTTTATATATAGTATGTACATTGTATATACTATATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATATTATGTACTATATATATTTTATACATAGTATATACACTGTATATACT ATATATATTTTATACATAGTATATACACTGTATATACTATATATATTTTA TACATAGTATATACACTGTATATACTATATATATTTTATACATAGTATAT ACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATATA CTATATATATTTTATACATAGTATATACACTGTATATACTATATATATTT TATACATAGTATATACACTGTATATACTATATATATTTTATACATAGTAT ATACACTGTATATACTATATATATTTTATACATAGTATATATACTGTATA TACTATATATATTTTATACATAGTATATATACTGTATATACTATATATAT TTTATACATAGTATATATACTGTATATACTATATATATTTTATACATAGT ATATATACTGTATATACTATATATATTTTATACATAGTATATATACTGTA TATACTATATATATTTTATATATAGTATATATACTGTATATACTATATAT ATTTTATATATAGTATATATACTGTATATACTATATATATTTTATATATA GTATATATACTGTATATACTATATATATTTTATATATAGTATATATACTG TATATACTATATATATTTTATATATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0122 a0001c0003t0001g0122	1	30	0.0333	791	c.505 others(810): Show c.505-41258_505-41257insTATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTATATATACTATATATAAAATATATATAGTATATACAGTATAT ATACTATATATAAAATATATATAGTATATACAGTATATATACTATATATA AAATATATATAGTATATACAGTATATATACTATGTATAAAATATATATAG TATATACAGTATATATACTATGTATAAAATATATATAGTATATACAGTAT ATATACTATGTATAAAATATATATAGTATATACAGTATATATACTATGTA TAAAATATATATAGTATATACAGTATATATACTATGTATAAAATATATAT AGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACAGT GTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATG TATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATAT ATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACA GTGTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTA TGTATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATAT ATATAGTACATAATATACATAAAATATATATATAGTATATACAATGTACA TACTATACATAAAATATATATATAGTATATACAATGTACATACTATATAT AAAATATATATAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADARB1_chr21_45069580_45231560	45156122	T T	TCCACCCA others(784): Show TCCACCCATCATCACCTATCATCCATCATCCATTCATCCACCCATCCATC CACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCCACCCA CCCACCCACCCATCATCACCCATCACCCATCATCTATCTATCCATCCATC CACCCATCCATCATTACCCATCATCCATCTATCCATGCACCCACCCACCA TCACCCATCATCCACCCACCCAACCACCCACCATCACCCATCATCCATCA TCCATTCATCCATCCATCTGCCCACCCACCCATCATCCATTCATCCATCC ATCCACCCACCCATCATCACCTATCATCCATCATCCATTCATCCATCCAT CCATCCACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCC ACCCACCCACCCATCATCACCCATCACCCATCATCTATCCAGCCATCCAT CCACCCACCCATCATCACCCATCACCCATCATCCATCCATCCATCCACCC CACCCATCATCACCCATCACCCATCATCCATCTATCCATCCACCCACCCA TCATCACCCATCACCCATCATCCATCCATCCATCCATCCACCCACCCATC ATCACCCATCACCCATCATCTATCTATCCATCCATCCACCCACCCATCAT TACCCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCA CCCACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATC CATCTGCCCACCCACCCATCATCCATTCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0201 a0001c0001t0023g0201	1	17	0.0588	791	c.-47 others(810): Show c.-47-15449_-47-15448insCCCATCCATCCACCTACCCATCATCA CCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCACCCATCAT CACCCATCACCCATCATCTATCTATCCATCCATCCACCCATCCATCATTA CCCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACC CACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCA TCTGCCCACCCACCCATCATCCATTCATCCATCCATCCACCCACCCATCA TCACCTATCATCCATCATCCATTCATCCATCCATCCATCCACCTACCCAT CATCACCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCATCA TCACCCATCACCCATCATCTATCCAGCCATCCATCCACCCACCCATCATC ACCCATCACCCATCATCCATCCATCCATCCACCCCACCCATCATCACCCA TCACCCATCATCCATCTATCCATCCACCCACCCATCATCACCCATCACCC ATCATCCATCCATCCATCCATCCACCCACCCATCATCACCCATCACCCAT CATCTATCTATCCATCCATCCACCCACCCATCATTACCCATCATCCATCT ATCCATGCACCCACCCACCATCACCCATCATCCACCCACCCAACCACCCA CCATCACCCATCATCCATCATCCATTCATCCATCCATCTGCCCACCCACC CATCATCCATTCATCCATCCATCCACCCACCCATCATCACCTATCATCCA TCATCCATTCATCCA	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(784): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATACTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATATA CAGAATATATATAGTATATATATTCTGTATACAGAATATATATACTATAT ATATTCTATATACAGAATATATATACTATATATATTCTATATATAGAATA TATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATATT CTGTATATATACAGAATATATATAGTATATATATTCTATATACAGAATAT ATATAGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATA TACAGAATATATATAGTATATATATTCTGTATACAGAATATATATACTAT ATATATTCTATATACAGAATATATATACTATATATATTCTATATATAGAA TATATATATAGTATATATATTCTGTATAATATATATAGTATATATATTCT GTATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATAG TATATATATTCTGTATATAGAATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	57	0.0175	791	c.409 others(810): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATTATACAGAATAT ATATACTATATATATATTCTATATATAGAATATATATAGTATATATATTC TGTATATAGAATATATATAGTATATATATTCTGTATACAGAATATATATA CTATATATATTCTGTATATAGAATATATATACTATATATTCTGTATACAG AATATATATACTATATATATTCTGTATATAGAATATATATACTATATATA TTCTGTATATATACAGAATATATATACTATATATATTCTATATACAGAAT ATATATACTATATATATATTCTATATATAGAATATATATAGTATATATAT TCTGTATATAGAATATATATAGTATATATATTCTGTATACAGAATATATA TACTATATATATTCTGTATATAGAATATATATACTATATATTCTGTATAC AGAATATATATACTATATATATTCTGTATACAGAATATATATACTATATA TATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATAT ATATACTATATATATTCTGTATATAGAATATATATACTATATATATTCTG TATATAGAATATATATACTATATATATTCTGTATATAGAATATATATACT ATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAG AATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(784): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGCGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0296 a0001c0010t0004g0296	1	76	0.0132	791	c.955 others(808): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGCGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGCGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDC34_chr19_526760_547087	540678	G G	GTGGCCAG others(784): Show GTGGCCAGGCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGTCCCCCAGGTTTAGAAT CCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCGGAGGCCGGGA TGGCCAGGCCCCCCGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCC CAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAAT CCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGG GTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCACGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCAGGTTTAGAATCCAGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAG AATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCC GGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGTCCCCCAGGTTTA GAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGC CGGGGTGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCCGGGA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	182	0.0055	791	c.498 others(806): Show c.498-648_498-647insAGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGTCCCCCAGGTT TAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCGGAGG CCGGGATGGCCAGGCCCCCCGGTTTAGAATCCGGAGGCCGGGGTGGCCAG GCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTT TAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAG GCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCC AGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCACGT TTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGA GGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGC CAGGCCCCCCAGGTTTAGAATCCAGAGGCCGGGGTGGCCAGGCCCCCCAG GTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCG GAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTG GCCAGGCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGTCCCCCA GGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCC GGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCCGGGATG GCCAGGCCCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(784): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18949.hp1 HG00438.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0090 a0001c0002t0002g0053 a0001c0002t0002g0090	2	151	0.0132	791	c.223 others(812): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTCCAGATTTATGGTTTTTATTACATAAGGTAAAAATATTACAGAT ACGGAAAAATTAATTCATTCAACAATAATTCAATTTACAGAATTACAGAT TATGTTTCCAGTTTACTGCCTATTATAGTCTGGAATACAGTATTTGATGC TACCAGTCTTTGGCATCTTGTAACATTCTGTCAATTAATTGGCCAAATAA TGCTAGGTCTCCATTTTAACCTGATTATCTGGAATTAATATTTCTCCATA TTTTCACTAATGACTTTCAAACTAGTTGACTGATTTTTGCCTAAAGAAAA TCACGATACTTCTTTAGTTTTACTTTTTGTTTGTAACTTAAAAAGGGAAG GACAATTGTCACATTTTAAAGAATGTAATAAAATGTCATACCTGACGTAG CAAATTGTATTTTTCAAAAATAACTACAACAATATATCCCATCCCACATG CTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGTGGGGGTTATGTCCCT TCCCCTTAATTTGTGTGTCATTAGACTGACACACGTGATAGACAACACTG TATAACTTCCAAGCCTGGGTCTTAAGAGGCAATACGGTCCTTGAGTCACT TTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAGCCTGGGCTACATGAA GAGACCCACATGGAGAGGAATGAAGTTCCTATCTCTCAATCCAGGCTGAG CTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCCTCTTGGAGAGGGGTC GCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(784): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAATTAAAAAAAGGCTAAA AATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAATA GGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGA TCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACT TTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGGTC TCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCCTC CTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTGCC TGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTCAG CTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAGCT ACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAGAA TAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0110 a0001c0004t0008g0110	1	2	0.5000	791	c.138 others(810): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCAC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGTT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTGG GACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTAGC TCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGCCT CCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTTTT TTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCACTGTG TTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCCTTG GCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(784): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAATTAAAAAAAGGCTAAA AATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAATA GGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGA TCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACT TTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGGTC TCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCCTC CTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTGCC TGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTCAG CTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAGCT ACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAGAA TAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0074 a0001c0004t0008g0074	1	93	0.0108	791	c.65 others(802): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAT TAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTT TTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACT CCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTA TAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTT TTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGG CCTCAAGCAATCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGT GTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGA TACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACA GCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTA TATGAAACTCAAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTG TAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(784): Show GGTGGTGGTGATGATGATGATGATGGTGATGATGATGATGATGGTGATGA TGATGGTGATGATGGTGATGATGAGGATGATGATGATGGTGATGATGATG GTGATGGTGATGATGACGGTGATGATGGTGATGGTGATGATGGTGATGAT GAGGATGATGATGGTGATGATGATGATGGTGATGATGAGGATGATGATGG TGATGATGATGATGGTGATGATGGTGATGGTGATGATGGTGATGAGGATG ATGATGGTGATGATGATGGTGATGATGATGATGGTGGTGATGGTGATGGT GGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGATGATGATGATGGTGATGATGATGGTGGTGATGATGGTGATGGTG ATGGTGATGATGGTGATGATGGTGATGATGATGATGATGGTGATGATGGT GGTGATGATGATGGTGATGATGGTGATGGTTATGATGGTGATGGTGATGA TGGTGATGATGAGGATGATGATGGTGATGGTGATGATAAGGATGATGATG ATGAGGATGATGGTGGTGATGATGATGGTGATGACGATGATGGTGATGAT GATGGTGATGACGATGATGGTGATTGTGATGATGGTGATGACGATGATGA GGATGGTGATGATGGTGATGATGATGGTGAGGATGGTGATGATGATGGTG ATGATGAGGATGGTGATGATGGTGATGATGATGGTGATTATGATGATGGT GATGATGGTGATGATGATGGTGATGATGATGATGGTGATGAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp2 HG02145.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0168 a0001c0001t0003g0176 a0001c0001t0001g0168 a0001c0001t0003g0176	2	75	0.0267	791	c.937 others(806): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGGTGATGA TGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGAGGATGATG ATGATGGTGATGATGATGGTGATGGTGATGATGACGGTGATGATGGTGAT GGTGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGA TGATGAGGATGATGATGGTGATGATGATGATGGTGATGATGGTGATGGTG ATGATGGTGATGAGGATGATGATGGTGATGATGATGGTGATGATGATGAT GGTGGTGATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGATGGTGATGATGATGATGATGGTGATGATGATGGTG GTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATGATGAT GATGATGGTGATGATGGTGGTGATGATGATGGTGATGATGGTGATGGTTA TGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGGTG ATGATAAGGATGATGATGATGAGGATGATGGTGGTGATGATGATGGTGAT GACGATGATGGTGATGATGATGGTGATGACGATGATGGTGATTGTGATGA TGGTGATGACGATGATGAGGATGGTGATGATGGTGATGATGATGGTGAGG ATGGTGATGATGATGGTGATGATGAGGATGGTGATGATGGTGATGATGAT GGTGATTATGATGATGGTGATGATGGTGATGATGATGGTGATGATGATGA TGGTGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL18A1_chr21_45400165_45518720	45500581	G G	GGTGTGTT others(784): Show GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01192.hp2 others(5): Show HG00099.hp1 HG00642.hp2 HG01192.hp2 HG01978.hp2 HG02132.hp1 HG03927.hp2 NA18747.hp2 NA18998.hp2	a0001 a0015 a0018 others(2): Show a0001 a0015 a0018 a0028 a0029	a0001c0013 a0015c0068 a0018c0072 others(2): Show a0001c0013 a0015c0068 a0018c0072 a0028c0074 a0029c0075	a0001c0013t0002 a0001c0013t0014 a0015c0068t0002 others(3): Show a0001c0013t0002 a0001c0013t0014 a0015c0068t0002 a0018c0072t0001 a0028c0074t0003 a0029c0075t0001	a0001c0013t0002g0102 a0001c0013t0002g0208 a0001c0013t0002g0209 others(5): Show a0001c0013t0002g0102 a0001c0013t0002g0208 a0001c0013t0002g0209 a0001c0013t0014g0212 a0015c0068t0002g0114 a0018c0072t0001g0097 a0028c0074t0003g0078 a0029c0075t0001g0096	8	285	0.0281	791	c.268 others(810): Show c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500615	G G	GGTGTGTG others(784): Show GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0177 a0001c0011t0001g0177	1	288	0.0035	791	c.268 others(810): Show c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(784): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGCAG TGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGATTC CTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCATG CCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGC CAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCATC CCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGTCA ATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAGGT CAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCCCA CTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTGAG ACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAAG AATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG02896.hp2 HG02976.hp2 HG01256.hp1 HG02896.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0002g0001	3	187	0.0160	791	c.-84 others(800): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTGTCTCCCA GGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAG GTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGT GTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTT TCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGC CAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCC CGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAG TGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCAT GCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGG TCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACT AAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCA GCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(784): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTTA TATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTCG AAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTTA ACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGCAG TGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGATTC CTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCATG CCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGC CAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCATC CCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGTCA ATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAGGT CAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCCCA CTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTGAG ACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAAG AATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG03490.hp1 NA19085.hp1 HG02602.hp1 HG03490.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0015	3	187	0.0160	791	c.-84 others(800): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAGTTTACTG TCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCT TTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTG TAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCCCA GGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAG GTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGT GTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTT TCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGC CAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCC CGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAG TGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCAT GCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGG TCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACT AAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCA GCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(784): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTTA TATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTCG AAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTTA ACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGCAG TGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGATTC CTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCATG CCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGC CAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCATC CCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGTCA ATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAGGT CAAAAGATGAGAATGTTGGCCGGGTATGGTGGCTCATGCCTGTCATCCCA CTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTGAG ACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAAG AATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	185	0.0054	791	c.-84 others(800): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAGTTTACTG TCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCT TTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTG TAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCCCA GGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAG GTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGT GTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTT TCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGC CAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCC CGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAG TGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTATGGTGGCTCAT GCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGG TCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACT AAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCA GCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
CRTC3_chr15_90524923_90650345	90647358	A A	ACCCCTCC others(784): Show ACCCCTCCTCAACCTCCACACCACACCCCCTCCACTACCCGCTCCTCACC TCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACAT CCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACACACCT CCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCC CTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACAC CCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCC TCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTC CTCCTCTACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCCAC ACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAA CCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCC CCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATAC CCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTC CTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCA CCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAA CGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCT CCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0218 a0003c0003t0001g0218	1	179	0.0056	791	c.52 others(802): Show c.5218_*5219insCCCCTCCTCAACCTCCACACCACACCCCCTCCAC TACCCGCTCCTCACCTCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCT CCTCCTCCTCCACATCCCTACCCCTCCACACCCCTCCCACCTCACTTTTC CCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATTCCT TCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACC CCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCA CACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCC TCCTCCACACCCCTCCTCCTCTACACCCCTCCTCCTCCTCCACACCCCTC CTCTTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCAT ACCCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACA TCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCT TCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCC TCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTC CTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCC TTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTC CTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTC ACCCCGT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2014		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647358	A A	ACCCCTCC others(784): Show ACCCCTCCTCAACCTCCACACCACACCCCCTCCACTACCCGCTCCTCACC TCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACAT CCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACACACCT CCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCC CTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCATGC CTCTCCTCCTCCTCCACACCCCTTCTCCTCCACACCCCTCCTCTTCCTCC TCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTC CTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCCAC ACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAA CCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCC CCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATAC CCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTC CTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCA CCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAA CGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCT CCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0098 a0002c0009t0001g0098	1	179	0.0056	791	c.52 others(802): Show c.5218_*5219insCCCCTCCTCAACCTCCACACCACACCCCCTCCAC TACCCGCTCCTCACCTCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCT CCTCCTCCTCCACATCCCTACCCCTCCACACCCCTCCCACCTCACTTTTC CCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATTCCT TCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACC CCTCCTCCTCCATGCCTCTCCTCCTCCTCCACACCCCTTCTCCTCCACAC CCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCC TCCTCCACACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTC CTCTTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCAT ACCCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACA TCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCT TCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCC TCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTC CTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCC TTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTC CTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTC ACCCCGT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2014		chr15	TogoVar
CUL4A_chr13_113204613_113272108	113232265	C C	CGCCCACC others(784): Show CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACC TGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTG CTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACT GCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	150	0.0067	791	c.513 others(806): Show c.513-903_513-902insCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA CTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACC ACTATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGC TATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACTAC CTGCCCACCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DCDC2C_chr2_3698575_3853008	3725467	C C	CGGTGGAT others(784): Show CGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTG GAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGA GACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGC AGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC GGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18978.hp1 NA18966.hp2 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0163 a0001c0002t0003g0164	2	258	0.0078	791	c.340 others(808): Show c.340-1483_340-1482insTGGAGGGAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCC CGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGA TCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTG GATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725531	C C	CGAGCAGA others(784): Show CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCA GAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGGAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC CGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCG GAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAG CAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGGAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGG GAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGA GCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGGAGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0013 a0005c0014t0013	a0005c0014t0013g0242 a0005c0014t0013g0242	1	320	0.0031	791	c.340 others(808): Show c.340-1438_340-1437insGGAGGGAGACGAGCAGAGAGGGAGGAGG CTGCCAGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGA GGCTGCCAGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTG GATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAG TGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGG AGGCTGCCAGGTGGATCCCAGAGGGAGATGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725566	A A	AGAGGAAG others(784): Show AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGG AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCG CCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGA GTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCC CGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0188 a0002c0003t0001g0189	2	219	0.0091	791	c.340 others(808): Show c.340-1405_340-1404insCGGTGGATCCTGGAGGGAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACG AGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCT GCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(784): Show GCTATAACCATCACCACTACCACTACTACCACTACTACAACCATTACCAC CATCACTGCTATAACCACCACCACCACCACTATAACCATCACCACCATCA CCACTATAACCACCACTACCACTATAACCACCATCATCATCACCACCACT ACCACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCAC CACTATAACCATCACCACCACCACCACTATAACCACCACTACCACCACCA CCACTATAACCACCACCACCACCACTATAACCACCATCATCACCACCACC ACTATAACCACCATCATCATCACCACCACTACCACTACTGTAACCATCAC CACCATCACTGCTATAACCACCACCACCACCACTATAACCACCACCACCA CCACTATAACCACCATCATCATCACCACCACCACTACTGTAACCATCACC ACCATCACCACTATAACCACCACCACCACCACCACTATAATCATTACCAC TATAACCACCACTACCACCACTACCACTATGATAACCATCACCAACACCA CTATAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAG GACCAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCA CCACTACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACC ACCACCACCACCATCACTATAATCATCACCATCATCACCACTATAACCAC CACCACCACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	83	0.0120	791	c.724 others(810): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TTATAGTGGTGATGGTGGTGATGGTTACAGTAGTGGTGGTGGTGATGATG ATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGT TATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGA TGATGGTGGTTATAGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTG GTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGGTGGT GGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGA TGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTA GTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGT GGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAG TGGTGATGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGAGGGAG others(784): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGCG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTC GGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGCGGGTGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCAGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0092 a0001c0013t0002g0092	1	307	0.0033	791	c.-42 others(802): Show c.-4255_-4254insGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGCGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGGGGGGGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGT GGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG CGGGTGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCA GGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGT GGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619032	G G	GCCCCCCC others(784): Show GCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTC CCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC TCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCCTG CAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	223	0.0045	791	c.-10 others(810): Show c.-107+5319_-107+5320insCCGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTC CCTGTAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCTGCTCCCCTCCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FBXO47_chr17_38931432_38972403	38946697	T T	TAAAAATA others(784): Show TAAAAATATATAAAAATATATACATATATAAATATAAATATATAATATAT AAATATATAAATATATAAATATATAAATATAAATATATAAAAATATATAA ATATATAAAAATATATAAATATATAAAAATATATAAATATATAAATATAT ATAAATATATATAAATATATAAATATATAAATATATATAAATATATAAAT ATATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAAT ATATAAATATATAAATATATAAATATATATAAGTACATATAAATATATAT ACATAAATATATAAATATATAAATATATAAATATATAAATACATAATATA TATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAAAAA TATATATAAAAAAATATATAAATATATAAAAATATATAAAAAATATATAC ACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAAAT ATATATTATATATAAATATATAATATATAAATATATATAAATATATAAAT ATATATAAATATATACAATATATAAATATATATAAATATATACAATATAT AAATATATATAAATATATACAATATATAAATATATATAAATATATACAAT ATATAAATATATATAAATATATACAATATATAAATATATATAAATATATA CAATATATAAATATATATAAATATATATAATATATAAATATATATAAATA TATAAATATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	328	0.0030	791	c.617 others(808): Show c.617-1562_617-1561insTATATATATTTATATATTTTTATATATT TATATATATTTATATATTTATATATATTTATATATTATATATATTTATAT ATATTTATATATTGTATATATTTATATATATTTATATATTGTATATATTT ATATATATTTATATATTGTATATATTTATATATATTTATATATTGTATAT ATTTATATATATTTATATATTGTATATATTTATATATATTTATATATTGT ATATATTTATATATATTTATATATTTATATATATTTATATATTATATATT TATATATAATATATATTTATATATTTTTATATATATTTATATATTTTTAT ATATATTTATATGTGTATATATTTTTTATATATTTTTATATATTTATATA TTTTTTTATATATATTTTTATATTTTTAATATATTTTATATATTATATAT ATTTTATATTTATATATATTATGTATTTATATATTTATATATTTATATAT TTATATATTTATGTATATATATTTATATGTACTTATATATATTTATATAT TTATATATTTATATATTTATATATTTATATATTTATGTATTTATATATTT TTATATATTTATATATTTATATATTTATATATATTTATATATTTATATAT TTATATATATTTATATATATTTATATATTTATATATTTTTATATATTTAT ATATTTTTATATATTTATATATTTTTATATATTTATATTTATATATTTAT ATATTTATATATTTATATATTATATATTTATATTTATATATGTATATATT TTTATATATTTTT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATAAA others(784): Show TATATAAATATATAAATAAAAATATATAAAAATATATACATATATAAATA TAAATATATAATATATAAATATATAAATATATAAATATATAAATATAAAT ATATAAAAATATATAAATATATAAAAATATATAAATATATAAATATATAT AAATATATATAAATATATAAATATATAAATATATATAAATATATAAATAT ATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAATAT ATAAATATATAAATATATATAAGTACATATAAATATATATACATAAATAT ATAAATATATAAATATATAAATATATAAATACATAATATATATAAATATA AAATATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAA AAATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATA TATATAAAAATATATAAATATATATAAAAATATATAAATATATATTATAT ATAAATATATAATATATAAATATATATAAATATATAAATATATATAAATA TATACAATATATAAATATATATAAATATATACAATATATAAATATATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATAAA TATATACAATATATAAATATATATAAATATATACAATATATAAATATATA TAAATATATACAATATATAAATATATATAAATATATAAATATATATAAAT ATATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	12	0.0833	791	c.617 others(808): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATATATTTATGTATATATATTTATATGTACTTATATAT ATTTATATATTTATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTATATATATTTATATATTTATAT ATTTATATATATTTATATATATTTATATATTTATATATTTTTATATATTT ATATATTTTTATATATTTATATTTATATATTTATATATTTATATATTTAT ATATTATATATTTATATTTATATATGTATATATTTTTATATATTTTTATT TATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATAAA others(784): Show TATATAAATATATAAATAAAAATATATAAAAATATATACATATATAAATA TAAATATATAATATATAAATATATAAATATATAAATATATAAATATAAAT ATATAAAAATATATAAATATATAAAAATATATAAATATATAAATATATAT AAATATATATAAATATATAAATATATAAATATATATAAATATATAAATAT ATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAATAT ATAAATATATAAATATATATAAGTACATATAAATATATATACATAAATAT ATAAATATATAAATATATAAATATATAAATACATAATATATATAAATATA AAATATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAA AAATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATA TATATAAAAATATATAAATATATATAAAAATATATAAATATATATTATAT ATAAATATATAATATATAAATATATATAAATATATAAATATATATAAATA TATACAATATATAAATATATATAAATATATACAATATATAAATATATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATAAA TATATACAATATATAAATATATATAAATATATACAATATATAAATATATA TAAATATATATAATATATAAATATATATAAATATATAAATATATATAAAT ATATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02135.hp2 HG00408.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0035 a0001c0001t0001g0058	2	13	0.1538	791	c.617 others(808): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATATATTTATGTATATATATTTATATGTACTTATATAT ATTTATATATTTATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTATATATATTTATATATTTATAT ATTTATATATATTTATATATATTTATATATTTATATATTTTTATATATTT ATATATTTTTATATATTTATATTTATATATTTATATATTTATATATTTAT ATATTATATATTTATATTTATATATGTATATATTTTTATATATTTTTATT TATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FMN2_chr1_240086883_240480187	240185119	C C	CCCCTTCT others(784): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0091 a0004c0007t0004g0091	1	146	0.0068	791	c.193 others(810): Show c.1931-3085_1931-3084insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATAACTTCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXP1_chr3_70949708_71588728	71435438	A A	AGGGAGGG others(784): Show AGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGG AGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGCACGGAGGGAGGG AGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAC GGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGG AGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGG AGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGG AGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGAAGGGACGGAG GGAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	86	0.0116	791	c.-16 others(812): Show c.-168+57987_-168+57988insCCCTCCCTCCGTCCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCC TTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGT CCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGT CCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCC CTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGT CCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCC CTCCCTCCGTCCCTCCCTCCCTCCCTCCGTGCCTCCCTCCCTCCCTCCGT CCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGT CCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCC CTCCCTCCGTCCCTCCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GPR35_chr2_240620480_240638159	240626062	G G	GGGGTCTC others(784): Show GGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGAGGGGTGA GGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGA GCGGGGTGAGGCTGTGATGGGTTCTCAGAGCGGGGTGAGGCTATGATGGG GTCTCAGAGCGGGGTGAGTCTCTGACGGGTGTCTCAGAGCGGGGTGAGGC TCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGG GGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCT CAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTCTGA TGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGA GGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAG AGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATG GGGTCTCAGAGCGGGGCGAGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGG CTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCG GGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTC TCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTGTG ATGGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGG TGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTCTGAC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	270	0.0037	791	c.-5+ others(804): Show c.-5+497_-5+498insTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTC TCAGAGAGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCT GATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGTTCTCAGAGCGGGGT GAGGCTATGATGGGGTCTCAGAGCGGGGTGAGTCTCTGACGGGTGTCTCA GAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACG GGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGG CTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGTG GGGTGAGGCTCTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGTC TCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGT GATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGG GTGAAGCTCTGATGGGGTCTCAGAGCGGGGCGAGGCTGTGAGGGGTTCTC AGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGAC GGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGTGAG GCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGC GGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGG GTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGC TCTGACGGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GZMM_chr19_539053_554922	540678	G G	GTGGCCAG others(784): Show GTGGCCAGGCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGTCCCCCAGGTTTAGAAT CCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCGGAGGCCGGGA TGGCCAGGCCCCCCGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCC CAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAAT CCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGG GTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCACGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCAGGTTTAGAATCCAGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAG AATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCC GGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGTCCCCCAGGTTTA GAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGC CGGGGTGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCCGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0030 a0001c0003t0002g0030	1	210	0.0048	791	c.-33 others(802): Show c.-3394_-3393insTGGCCAGGCCCCCAGGTTTAGAATCCGGAGGCCG GGGTGGCCAGGCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGTC CCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGA ATCCGGAGGCCGGGATGGCCAGGCCCCCCGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAG AATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCC GGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTA GAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGC CGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCAGAGGCCGGGGTGGCCAG GCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTT TAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAG GCCGGGGTGGCCAGGCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGTCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGT TTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCAGAG GCCGGGA	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3374		chr19	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATTGG others(784): Show TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGCTGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0123 a0001c0001t0029g0123	1	320	0.0031	791	c.666 others(808): Show c.666-4733_666-4732insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCC ATCCAACCAATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(784): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	89	0.0112	791	c.666 others(808): Show c.666-4737_666-4736insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(784): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGG CAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCT CAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGA ATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCA GTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCT GGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGC GGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACC CTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTG GAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGT CAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGT CTGGTGTGGAATCGGCGGCAGTCAGTGACCTCAGTCTGGTGTGGAATCGG CGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGAC CCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGT GGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	103	0.0097	791	c.103 others(808): Show c.103-1231_103-1230insGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGG GTCACTGACTGCCGCCGATTCCACACCAGACTGAGGTCACTGACTGCCGC CGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAG ACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTG ACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTC CACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAG GGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCC GCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACC AGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCAC TGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGAT TCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTG AGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTG CCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACA CCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTC ACTGACTGCCGCC	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14			chr22	TogoVar
KIF25_chr6_167992671_168050091	167997134	T T	TTGGGGGC others(784): Show TTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGG GCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCG GGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0348 a0003c0004t0005g0348	1	368	0.0027	791	c.-23 others(802): Show c.-2335_-2334insTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGA ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		536		chr6	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(784): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGATGGGGGTGGGGGGGTGATGACGGTGATGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG AGGGTGATGATGGTGGGGGTAATGACGGTGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTGGG GGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGGG GGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGATGGTGATGG TGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTG GGGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0106 a0004c0004t0001g0106	1	31	0.0323	791	c.956 others(808): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCA TCACCGTCATCACCCCCACCATCATCGTCATCACCCCCACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCACCGTCATTACCCCC ACCATCATCACCCTCACCATCATCACCCCCACCCCCACCATCATCACCCC CACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACCATCACCGTCATCACCCCCACCATCACCGTCATCACCCCCCC ACCCCCATCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCAC ATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCTCCA CCCCCATCATCACCGTCATCACCCCCACCATCATCACCCCCAGCCCCACC GTCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCACCAC CCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(784): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCC CTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCC CCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCCTCCTC ACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC GCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0017 a0012c0016t0017	a0012c0016t0017g0118 a0012c0016t0017g0118	1	32	0.0313	791	c.218 others(806): Show c.2189-97_2189-96insAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGTGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGCGGGGGGGGCACACTCGCCAGGAGCCCATGT GAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG CGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCA CACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCTATGT GAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGG GCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCTA TGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTG AGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCAC ACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAG CCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGCGTGGA others(784): Show GGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGC GCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTC GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGA GGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGT GGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGG CACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGG GGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGT GGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGG GCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGA GGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG TGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	109	0.0092	791	c.159 others(808): Show c.1596+253_1596+254insGGCGTGTGGAGGGGGGCGCGTGGGGGGG GCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGT GGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGC GTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGCGTGGAGGAGGG GCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGG GGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCG TGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGG CCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGG GGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTG GGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTG TGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGG CGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGG GGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGC ATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGC GTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGG CGCGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(784): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATA TATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATA TATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	210	0.0048	791	c.-5+ others(806): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATA TAAAATCTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATCTTATTTTATATATATATAAAATATATATA AAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATAT ATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATA TAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTAT ATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATA TATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATATAAA ATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTA TATATATATAAAATATATATAAAATATATATAAAATAAGATTTTATATAT ATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAAA AAATATATATCAAATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(784): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATA TATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATA TATAAAATAAGATTTTATATATATATAAGATTTTATATATATATAAAATA AGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	242	0.0041	791	c.-5+ others(806): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAA TCTTATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATAAAATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTAT ATATATATAAAATATATATAAAGTAAGATTTCATATATATAAAATATAAA GTAAGATTTTATATATATATAAAATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATAAAAAATATATATCAAATATATATAAAATAAGATTTTATATA TATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(784): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATCTTATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATA TATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATA TATAAAATAAGATTTTATATATATATAAGATTTTATATATATATAAAATA AGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0247 a0001c0001t0008g0303 a0001c0001t0008g0247 a0001c0001t0008g0303	2	243	0.0082	791	c.-5+ others(806): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAA TAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATAAAATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTAT ATATATATAAAATATATATAAAGTAAGATTTCATATATATAAAATATAAA GTAAGATTTTATATATATATAAAATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATAAAAAATATATATCAAATATATATAAAATAAGATTTTATATA TATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NME4_chr16_392199_405754	397709	T T	TGAGGGAG others(784): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGCG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTC GGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGCGGGTGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCAGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	299	0.0033	791	c.91+ others(804): Show c.91+397_91+398insAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGTGCGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGGGGGGGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGG TGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GCGGGTGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC AGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGG TGGGGGTGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132150624	G G	GCTCAACC others(784): Show GCTCAACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0176 a0006c0012t0001g0176	1	226	0.0044	791	c.902 others(806): Show c.902-353_902-352insACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(784): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGG GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATG GGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGG GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATG GGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCT CCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCA GGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTC AGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATCAC TCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATC ACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAG AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0075 a0001c0006t0004g0075	1	284	0.0035	791	c.140 others(808): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGC ACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCT GCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTC CCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGATCCCCCCTCC ACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCC ACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTC CACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCC ACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTC CACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCG ACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(784): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTGTATATATGCATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTTGTACATATAATACTATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTG TATATATACATATATATGTATATGCATATGTGTGTATATATACATATATA TGTATATGCATATGTGTGTAATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTAATATGCATATGTGTGTATATATACATATA TATGTATATGCATTATGTGTGTATATATACATATATATGTATATGCATAT GTGTGTATATATACACATATACATATATATGCATATGTGTGTATATATAC ATATACATATATATGCATATATGTGTATATATATACATATATATGCATAT ATGTGTATACATATACATATATATGCATATATGTGTATATATACACATAT ATATGTGTGTGTATATATATGTGTGTGTAATATACACATATATATGTGTG TGTATATATATGTGTGTGTATATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	135	0.0074	791	c.31 others(802): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTGTATATA TGCATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTTGTACATAT AATACTATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTAATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTAATATGCATATGTGT GTATATATACATATATATGTATATGCATTATGTGTGTATATATACATATA TATGTATATGCATATGTGTGTATATATACACATATACATATATATGCATA TGTGTGTATATATACATATACATATATATGCATATATGTGTATATATATA CATATATATGCATATATGTGTATACATATACATATATATGCATATATGTG TATATATACACATATATATGTGTGTGTATATATATGTGTGTGTAATATAC ACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATAT ATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(784): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAG GAGGAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAG ACGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGGAGGGGGAGGAGAGGAA AGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGGGGAAGACGGGAGGAG GAGGAGAGGAAAGGGGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGGA AGATGGGAGGAGAAGAGGAAAGAGGGGGAAGATGGAAGGAGGAGAAGAGG AAAGAGGGGGAAGATGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGG AGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGG AAGATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAG GAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGGGGGAAGACGGGA GGAGGAGGACAGGAAAGAGGGGGAAGATGGGAGGAGAAGAGGAAAGAGGG GGAAGATGGAAGGAGGAGAAGAGGAAAGAGGGGGAAGATGGGAGGAGGAG GAGAGGAAAGAGGGGGAAGATGGAAGGAGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02109.hp2 HG03041.hp1 others(3): Show HG01433.hp1 HG02109.hp2 HG03041.hp1 HG03195.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0025 a0001c0001 a0001c0002 a0001c0025	a0001c0001t0022 a0001c0002t0005 a0001c0002t0032 others(1): Show a0001c0001t0022 a0001c0002t0005 a0001c0002t0032 a0001c0025t0005	a0001c0001t0022g0078 a0001c0002t0005g0044 a0001c0002t0005g0165 others(3): Show a0001c0001t0022g0078 a0001c0002t0005g0044 a0001c0002t0005g0165 a0001c0002t0005g0292 a0001c0002t0032g0127 a0001c0025t0005g0173	6	7	0.8571	791	c.162 others(810): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCTTCCATCTT CCCCCTCTTTCCTCTCCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTTCT CCTCCTTCCATCTTCCCCCTCTTTCCTCTTCTCCTCCCATCTTCCCCCTC TTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCCTCCC GTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCCTCTC CTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTCCCCC TCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCC CATCTTCCCCCTCTTTCCTCTTCTCCTCCTTCCATCTTCCCCCTCTTTCC TCTTCTCCTCCCATCTTCCCCCTCTTTCCTGTCCTCCTCCTCCCGTCTTC CCCCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTCTT CCCGTCTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTTT TCTCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTTCC CCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCT CCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCATCTTCCCCCTCTTTCCA CTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCC TTTCCTCTTCTCCTCCTCCCATCTTCCCCCTCCTTCCTCTCCTCCCCTTC CCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar

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