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
ANK3_chr10_60021298_60394875	60365086	T T	TAAAAAAT others(305): Show TAAAAAATAGATGCTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02818.hp1 HG01123.hp2 HG02818.hp1	a0001 a0001	a0001c0083 a0001c0085 a0001c0083 a0001c0085	a0001c0083t0005 a0001c0085t0001 a0001c0083t0005 a0001c0085t0001	a0001c0083t0005g0087 a0001c0085t0001g0091 a0001c0083t0005g0087 a0001c0085t0001g0091	2	192	0.0104	312	c.114 others(331): Show c.114+24338_114+24339insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGAGCATCTATTTTTT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43			chr10	TogoVar
ANKLE2_chr12_132720503_132766832	132759595	A A	ACATTTTT others(305): Show ACATTTTTATATAAAATATCAGTATTTTATGTATACTATATGTGCTATAT GATATACACGTATCATATGCCATGATATACGTATATTATACATCATATAT AAAAACATTTTTATATAAAATATCAGTATTTTATGTATACTATATGTGCT ATATGATATACACGTATCATATGCCATGATATACGTATATTATACATCAT ATATAAAAACATTTTTATATAAAATATCAGTATTTTATGTATACTATATG TGCTATATGATATACACGTATCATATGCCATGATATACGTATATTATACA TCATATATAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	350	0.0029	312	c.181 others(329): Show c.181+2022_181+2023insCTTTTATATATGATGTATAATATACGTA TATCATGGCATATGATACGTGTATATCATATAGCACATATAGTATACATA AAATACTGATATTTTATATAAAAATGTTTTTATATATGATGTATAATATA CGTATATCATGGCATATGATACGTGTATATCATATAGCACATATAGTATA CATAAAATACTGATATTTTATATAAAAATGTTTTTATATATGATGTATAA TATACGTATATCATGGCATATGATACGTGTATATCATATAGCACATATAG TATACATAAAATACTGATATTTTATATAAAAATG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANO7_chr2_241183677_241230976	241218126	G G	GGCCGGGG others(305): Show GGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGCAGCGGGGG CGCGCAGGGGCGGGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGG GGCAGCAGGGGCGCGTAGGGGCGGGGCGGGGGGGGCAGCGGGGGCGCGCA GGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCG CAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGGCGGGGGG CAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGG CGGGGCGGGGGGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0028 a0028	a0028c0045 a0028c0045	a0028c0045t0001 a0028c0045t0001	a0028c0045t0001g0362 a0028c0045t0001g0362	1	396	0.0025	312	c.217 others(329): Show c.2179-113_2179-112insGCCGGGGGCAGCGGGGGCGCGCAGGGGC GGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGCCGGGGGCAGCGGGG GCGCGCAGGGGCGGGGCGGGGGGCAGCAGGGGCGCGTAGGGGCGGGGCGG GGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCG CAGGGGCGGAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCG CGCAGGGGCGGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGG GGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGC	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24			chr2	TogoVar
AP3D1_chr19_2095988_2156566	2128983	C C	CCCCACAG others(305): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC ACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0369 a0001c0001t0003g0369	1	406	0.0025	312	c.806 others(327): Show c.806+106_806+107insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCG GGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCA CGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGC GGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCC GGCTCCACGGGGTGCAGTGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARF4_chr3_57566363_57602344	57578465	T T	TCAATTCT others(305): Show TCAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	358	0.0028	312	c.259 others(329): Show c.259-1079_259-1078insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTG	ARF4	ENSG00000168374.11	transcript	ENST00000303436.11	protein_coding	3/5			chr3	TogoVar
ARHGAP32_chr11_128960060_129197325	129127570	T T	TGAAAGGA others(305): Show TGAAAGGAAAATACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAATAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02886.hp2 others(10): Show HG02280.hp2 HG02572.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 NA18981.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005	a0001c0002t0001g0224 a0001c0002t0001g0243 a0001c0002t0001g0251 others(10): Show a0001c0002t0001g0224 a0001c0002t0001g0243 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0003g0284 a0001c0002t0005g0248 a0001c0002t0005g0250	13	398	0.0327	312	c.226 others(329): Show c.226-2677_226-2676insTTTTTTTTTTTTTTTTTTTATTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCAGTATTTTCCTTTC	ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding	2/22			chr11	TogoVar
ARHGAP44_chr17_12784498_12996643	12850387	T T	TAAGAAAT others(305): Show TAAGAAATTGCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATGGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTGAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0222 a0001c0001t0027g0222	1	230	0.0044	312	c.54- others(329): Show c.54-44542_54-44541insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATG GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTGAAAAAAAAAAAAAAAAAAAAAAGAAATTGCG	ARHGAP44	ENSG00000006740.18	transcript	ENST00000379672.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARHGEF10_chr8_1818926_1963641	1873565	G G	GCCGCGGG others(305): Show GCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCCGC GGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTA GTGCACCCGCATTTCCTCGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCA CCCGCATTTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCGC ATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCC TAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTAGTTG CCTTGAGAGGTGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01943.hp1 others(3): Show HG01069.hp2 HG01071.hp2 HG01943.hp1 HG02135.hp1 HG02155.hp1 HG02293.hp1	a0001 a0001	a0001c0008 a0001c0016 a0001c0019 a0001c0008 a0001c0016 a0001c0019	a0001c0008t0004 a0001c0016t0012 a0001c0019t0001 a0001c0008t0004 a0001c0016t0012 a0001c0019t0001	a0001c0008t0004g0136 a0001c0016t0012g0132 a0001c0019t0001g0213 others(3): Show a0001c0008t0004g0136 a0001c0016t0012g0132 a0001c0019t0001g0213 a0001c0019t0001g0214 a0001c0019t0001g0215 a0001c0019t0001g0217	6	363	0.0165	312	c.680 others(329): Show c.680-2886_680-2885insGCCTTGAGAGGTGCCCGCGGGGTAGTGC ACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCG CATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTC CTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTAGTT GCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTT GAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAG GTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873641	T T	TGCCTTGA others(305): Show TGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCCTT GAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAG GTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCC GCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGG TAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTG CACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCC GCATTTCCTAGTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0124 a0001c0124	a0001c0124t0001 a0001c0124t0001	a0001c0124t0001g0216 a0001c0124t0001g0216	1	363	0.0028	312	c.680 others(329): Show c.680-2886_680-2885insGCCTTGAGAGGTGCCCGCGGGGTAGTGC ACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCG CATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTC CTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTAGTT GCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTT GAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTGGCCTTGAGAG GTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955149	A A	ATGGGTAG others(305): Show ATGGGTAGCCAGGTGCTTCCTGAAAGGAGGTGCACTCTCACTGTTCCTCT GGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCACAGTTTCTC TGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTG TCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTT TCTCTGGATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTG TTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCACTG TGTTTCTCTGGAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03669.hp1 HG02647.hp2 HG03669.hp1	a0001 a0010 a0001 a0010	a0001c0009 a0010c0099 a0001c0009 a0010c0099	a0001c0009t0069 a0010c0099t0014 a0001c0009t0069 a0010c0099t0014	a0001c0009t0069g0302 a0010c0099t0014g0205 a0001c0009t0069g0302 a0010c0099t0014g0205	2	363	0.0055	312	c.352 others(331): Show c.3521-1600_3521-1599insTGGGTAGCCAGGTGCTTCCTGAAAGG AGGTGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAG GAGGCACACTCTCACAGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAA AGGAGGCGCACTCTCACTGTTTGTCTGGATGGGTAGCTAGGTGCATCCTG AAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCC TGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCTAGGTGCTC CCTGAAAGGAGGTGCACTCACTGTGTTTCTCTGGAT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955157	C C	CAGGTGCA others(305): Show CAGGTGCATCCTGGAAGGAGGCACACTCTCACAGTTTCTCTGGATGGGTA GCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTGTCTGGATGGG TAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATG GGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTGTTTCTCTGGA TGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTG GATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTGTTTCTC TGGATGGGTAGCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG02451.hp2 others(2): Show HG00280.hp1 HG01081.hp1 HG02451.hp2 HG02486.hp2 NA19088.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0020	a0001c0001 a0003c0043 a0006c0088 others(1): Show a0001c0001 a0003c0043 a0006c0088 a0020c0105	a0001c0001t0002 a0003c0043t0002 a0003c0043t0004 others(2): Show a0001c0001t0002 a0003c0043t0002 a0003c0043t0004 a0006c0088t0002 a0020c0105t0002	a0001c0001t0002g0053 a0003c0043t0002g0328 a0003c0043t0004g0349 others(2): Show a0001c0001t0002g0053 a0003c0043t0002g0328 a0003c0043t0004g0349 a0006c0088t0002g0276 a0020c0105t0002g0039	5	363	0.0138	312	c.352 others(331): Show c.3521-1586_3521-1585insATCCTGGAAGGAGGCACACTCTCACA GTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCA CTGTTTGTCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCT CACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACT CACTGTGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCA CTCTCACTGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTG CACTCACTGTGTTTCTCTGGATGGGTAGCTAGGTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCAGGG others(305): Show GGGCAGGGGGGCTGACACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGG CGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCC CCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCC CCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	280	0.0036	312	c.-14 others(327): Show c.-14-841_-14-840insCAGGGGGGCTGACACCCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAG GCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG TGGGAGGGCTGACCCCCCCATCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARNT2_chr15_80399382_80602933	80413074	T T	TCAGTGGC others(305): Show TCAGTGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGG GACTACAGGCGTGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	268	0.0037	312	c.31+ others(327): Show c.31+8540_31+8541insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT TTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTG TAGCTGGGACTACAGGCGTGCGCCACCATGCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAGTGGCTTTTT	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ATAD3C_chr1_1444689_1475163	1461621	T T	TCTCCTCA others(305): Show TCTCCTCATGAGACCCCCATGTCGGAATTCGAAGGAGAGGCTCCTCATGA GACCCCCATGTAGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATGT AGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATGTGGGGACTGGAG GGAGAGGCTCCTCATGAGACCCCCATGTAGGGACTGGAGGGAGAGGCTCC TCATGAGACCCCCATGTAGGGACTGGAGGGAGAGGCTCCTCATGAGACCC CCATGTGGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATGTAGGGA CTGGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0055 a0001c0004t0055	a0001c0004t0055g0161 a0001c0004t0055g0161	1	410	0.0024	312	c.980 others(327): Show c.980+725_980+726insCGGAATTCGAAGGAGAGGCTCCTCATGAGA CCCCCATGTAGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATGTAG GGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATGTGGGGACTGGAGGG AGAGGCTCCTCATGAGACCCCCATGTAGGGACTGGAGGGAGAGGCTCCTC ATGAGACCCCCATGTAGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCC ATGTGGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATGTAGGGACT GGAGGGAGAGGCTCCTCATGAGACCCCCATGT	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATE1_chr10_121735424_121933031	121777466	G G	GGAATCGG others(305): Show GGAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0211 a0001c0002t0006g0211	1	320	0.0031	312	c.137 others(333): Show c.1378+12702_1378+12703insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGATTC	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	11/11			chr10	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(305): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCCACCACCTGCTCCACCCTAACTCATTCCCAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	300	0.0033	312	c.654 others(331): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTGGGAATGAGTT AGGGTGGAGCAGGTGGTGGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(305): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01192.hp1 HG00323.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0082 a0001c0014t0001g0173 a0001c0001t0001g0082 a0001c0014t0001g0173	2	300	0.0067	312	c.654 others(331): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTGGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10D_chr4_47480275_47598486	47494500	T T	TAAAGTTA others(305): Show TAAAGTTAGATTATCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGC GGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0041 a0005c0006t0002g0041	1	332	0.0030	312	c.-38 others(329): Show c.-38+8993_-38+8994insTCACGCCTGTAGTCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTA ACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGC GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAGTTAGATTA	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(305): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACC CCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCAC CTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCA CCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0201 a0001c0002t0059g0201	1	254	0.0039	312	c.39+ others(329): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCAC CTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCAC CCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTC CCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCAC CCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(305): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCC CCACCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCC CACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCC TACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCA CCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0212 a0001c0002t0039g0212	1	254	0.0039	312	c.39+ others(329): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCA CCTCCCCCCACCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCAC CCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCC CACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCC CCACCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(305): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCTCCCCCACCTCCCCCCACCTCCCCCACCT CCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCC CACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCA CCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0138 a0001c0001t0060g0138	1	254	0.0039	312	c.39+ others(329): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCTCCCCCACCTCCCCCCACCTCC CCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCA CCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767303	G G	GATGTGGG others(305): Show GATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGG TGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCC CCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAG GTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATG TGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTG GGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGT GGGAAGGTGGGGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	254	0.0039	312	c.40- others(329): Show c.40-17832_40-17831insATGTGGGGGTGTTGGGGGCCCCTGTGGG AAGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGA GATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGT GTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCC CTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGG TGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGT GGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29			chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82959021	G G	GGTGTGTG others(305): Show GGTGTGTGTGTGTGTACACTGGGGGTGTATGGTGTGTGTGTGTGTGTACA CTGGGGGTGTATGGTGTGTGTGTTATACTGTGTGGGGGTGTATGGTGTGT GTGTATACTGTGTGGGGGTGTATGGTGTGTGTGTGTGTATACTGTGTGGG GGTGTATGGTGTGTGTGTGTGTACACTGGGGGTGTATGGTGTGTGTGTGT GTGTACACTGGGGGTGTATGGTGTGTGTGTATACTGTGTGGGGGTGTATG GTGTGTGTGTATACTGTGTGGGGGTGTATGTGTGTGTGTGTACACTGTGG GGGTGTATGGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0247 a0001c0001t0004g0247	1	266	0.0038	312	c.681 others(329): Show c.681-1528_681-1527insACACCATACACCCCCACAGTGTACACAC ACACACATACACCCCCACACAGTATACACACACACCATACACCCCCACAC AGTATACACACACACCATACACCCCCAGTGTACACACACACACACACCAT ACACCCCCAGTGTACACACACACACACCATACACCCCCACACAGTATACA CACACACACACCATACACCCCCACACAGTATACACACACACCATACACCC CCACACAGTATAACACACACACCATACACCCCCAGTGTACACACACACAC ACACCATACACCCCCAGTGTACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970672	C C	CGTGGACG others(305): Show CGTGGACGCGACCTCCGCACCCAGCGTGGACGCGACCTCCGCACCCAGCG TGGACGCGACCTCCGCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTG GCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACACAGCGTGGC CGCGACCTCCGCACACAGCGTGGCCGTGACCTCCGCACCCGGTGTGGCCG TGACCTCCGCACATGGTGTGGCCGTGACCTCCGCACATGGTGTGGCCGTG ACCTCCCCACCCGGTGTGGCCGTGACCTCTGCACACAGCGTGGCCATGAC CTCCGCACCCAGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0012 a0001c0014t0001g0012	1	266	0.0038	312	c.460 others(329): Show c.460-4927_460-4926insACTGGGTGCGGAGGTCATGGCCACGCTG TGTGCAGAGGTCACGGCCACACCGGGTGGGGAGGTCACGGCCACACCATG TGCGGAGGTCACGGCCACACCATGTGCGGAGGTCACGGCCACACCGGGTG CGGAGGTCACGGCCACGCTGTGTGCGGAGGTCGCGGCCACGCTGTGTGCG GAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGGGGA GGTCGCGGCCACGCTGGGTGCGGAGGTCGCGTCCACGCTGGGTGCGGAGG TCGCGTCCACGCTGGGTGCGGAGGTCGCGTCCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970672	C C	CGTGGACG others(305): Show CGTGGACGCGACCTCCGCACCCAGCGTGGACGCGACCTCCGCACCCAGCG TGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTG GCCGCGACCTCCGCACACAGCGTGGCCGCGACCTCCGCACACAGCGTGGC CGTGACCTCCGCACCCAGCGTGGCCGTGACCTCCCCACCCGGTGTGGCCG TGACCTCCGCACATGGTGTGGCCGTGACCTCCGCACATGGTGTGGCCGTG ACCTCCGCACCCGGTGTGGCCGTGACCTCTGCACACAGCGTGGCCATGAC CTCCGCACCCAGT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0182 a0001c0001t0006g0182	1	266	0.0038	312	c.460 others(329): Show c.460-4927_460-4926insACTGGGTGCGGAGGTCATGGCCACGCTG TGTGCAGAGGTCACGGCCACACCGGGTGCGGAGGTCACGGCCACACCATG TGCGGAGGTCACGGCCACACCATGTGCGGAGGTCACGGCCACACCGGGTG GGGAGGTCACGGCCACGCTGGGTGCGGAGGTCACGGCCACGCTGTGTGCG GAGGTCGCGGCCACGCTGTGTGCGGAGGTCGCGGCCACGCTGGGTGGGGA GGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGAGG TCGCGTCCACGCTGGGTGCGGAGGTCGCGTCCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970672	C C	CGTGGACG others(305): Show CGTGGACGCGACCTCCGCACCCAGCGTGGACGCGACCTCCGCACCCAGCG TGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTG GCCGCGACCTCCGCACACAGCGTGGCCGCGACCTCCGCACACAGCGTGGC CGTGACCTCCGCACCCGGCGTGGCCGTGACCTCCCCACCCGGTGTGGCCG TGACCTCCGCACATGGTGTGGCCGTGACCTCCGCACATGGTGTGGCCGTG ACCTCCGCACCCGGTGTGGCCGTGACCTCTGCACACAGCGTGGCCATGAC CTCCGCACCCAGT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0006 a0006c0026t0006	a0006c0026t0006g0176 a0006c0026t0006g0176	1	266	0.0038	312	c.460 others(329): Show c.460-4927_460-4926insACTGGGTGCGGAGGTCATGGCCACGCTG TGTGCAGAGGTCACGGCCACACCGGGTGCGGAGGTCACGGCCACACCATG TGCGGAGGTCACGGCCACACCATGTGCGGAGGTCACGGCCACACCGGGTG GGGAGGTCACGGCCACGCCGGGTGCGGAGGTCACGGCCACGCTGTGTGCG GAGGTCGCGGCCACGCTGTGTGCGGAGGTCGCGGCCACGCTGGGTGGGGA GGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGAGG TCGCGTCCACGCTGGGTGCGGAGGTCGCGTCCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALT1_chr9_33105642_33172336	33126594	A A	AAACATTG others(305): Show AAACATTGTTAACTATTGTTAACCATAGTTAACCATTGTTAACATTGTTA ACTATTGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATGGTTAA CCATAGTTAACCATTGTTAACATTGTTAACTATTGTTAACCATAGTTAAC CATTGTTAACATTGTTAACTATGGTTAACCATAGTTAACCATTGTTAACA TTGTTAACTATGGTTAACCATAGTTAACCATTGTTAACATTGTTAACTAT GGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATTGTTAACCATA GTTAACCATTGTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0174 a0001c0001t0023g0174	1	366	0.0027	312	c.649 others(329): Show c.649-5989_649-5988insAACAATGGTTAACTATGGTTAACAATAG TTAACAATGTTAACAATGGTTAACTATGGTTAACCATAGTTAACAATGTT AACAATGGTTAACTATGGTTAACCATAGTTAACAATGTTAACAATGGTTA ACTATGGTTAACCATAGTTAACAATGTTAACAATGGTTAACTATGGTTAA CAATAGTTAACAATGTTAACAATGGTTAACTATGGTTAACCATAGTTAAC AATGTTAACAATGGTTAACTATGGTTAACAATAGTTAACAATGTTAACAA TGGTTAACTATGGTTAACAATAGTTAACAATGTT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	2/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33126594	A A	AAACATTG others(305): Show AAACATTGTTAACTATTGTTAACCATAGTTAACCATTGTTAACATTGTTA ACTATTGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATTGTTAA CCATAGTTAACCATTGTTAACATTGTTAACTATTGTTAACCATAGTTAAC CATTGTTAACATTGTTAACTATTGTTAACCATAGTTAACCATTGTTAACA TTGTTAACTATTGTTAACCATAGTTAACCATTGTTAACATTGTTAACTAT GGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATTGTTAACCATA GTTAACCATTGTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0172 a0001c0001t0023g0172	1	366	0.0027	312	c.649 others(329): Show c.649-5989_649-5988insAACAATGGTTAACTATGGTTAACAATAG TTAACAATGTTAACAATGGTTAACTATGGTTAACCATAGTTAACAATGTT AACAATGGTTAACTATGGTTAACAATAGTTAACAATGTTAACAATGGTTA ACTATGGTTAACAATAGTTAACAATGTTAACAATGGTTAACTATGGTTAA CAATAGTTAACAATGTTAACAATGGTTAACTATGGTTAACAATAGTTAAC AATGTTAACAATGGTTAACTATGGTTAACAATAGTTAACAATGTTAACAA TGGTTAACTATGGTTAACAATAGTTAACAATGTT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	2/5			chr9	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(305): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATTATATATATTTATATATATATATATTATATATATAT TTATATATATATATATTATATATATATTTATATATATATATATTATATAT ATATTTATATATATATATATTATATATATATTTATATATATATATTATAT ATATATTTATATATATATATATTATATATATATTTATATATATATATTAT ATATATATTTATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	216	0.0046	312	c.-2- others(329): Show c.-2-22485_-2-22484insTATAAATATATATATAATATATATATAT AAATATATATATAATATATATATATATAAATATATATATAATATATATAT ATAAATATATATATAATATATATATATATAAATATATATATAATATATAT ATATATAAATATATATATAATATATATATATATAAATATATATATAATAT ATATATATATAAATATATATAATATATATATATATAAATATATATATAAT ATATATATATAAATATATATATAATATATATATATATAAATATATATATT ATATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BCAS3_chr17_60672851_61397831	60735345	T T	TAAAAAAC others(305): Show TAAAAAACCTGGTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGATTGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG03041.hp1 others(5): Show HG02809.hp1 HG02965.hp2 HG03041.hp1 HG03453.hp2 HG03579.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0003 a0003c0001 others(1): Show a0001c0004 a0002c0003 a0003c0001 a0003c0010	a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 others(3): Show a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0003c0001t0001 a0003c0001t0002 a0003c0010t0002	a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 others(5): Show a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0002g0044 a0002c0003t0001g0052 a0003c0001t0001g0028 a0003c0001t0002g0022 a0003c0010t0002g0023	8	74	0.1081	312	c.322 others(331): Show c.322-11838_322-11837insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGATTGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAACCTGGTGAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRIP1_chr17_61674139_61868528	61719260	T T	TAAAGAAA others(305): Show TAAAGAAAATGTGGTATAGTTTTCTCTTTGTACTGAAATCCAAATTTTCC TTCCTAGTTGAAATCCTATCAAACTGTTGACATGGACTGAATCTTATTTG ATTGCTATGTGGAAACATAACAATGACAACATTAATTATTAAGTTTTGGT ATTCAACAACTTTCAGTAAATCAGAATGATACTTGCTAAGTTTAAGAATA TCTGCATATTTTATAACAGCACACTCTTTGGCCTAATTGGTACTTCTTAA CAATAAATAATAAAAGAATTCTATAATAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0044 a0001c0005t0044	a0001c0005t0044g0083 a0001c0005t0044g0083	1	266	0.0038	312	c.238 others(331): Show c.2380-3198_2380-3197insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTATTATAGAATTCTTTTATTATTTATTGTTAAGAAGTACCA ATTAGGCCAAAGAGTGTGCTGTTATAAAATATGCAGATATTCTTAAACTT AGCAAGTATCATTCTGATTTACTGAAAGTTGTTGAATACCAAAACTTAAT AATTAATGTTGTCATTGTTATGTTTCCACATAGCAATCAAATAAGATTCA GTCCATGTCAACAGTTTGATAGGATTTCAACTAGGAAGGAAAATTTGGAT TTCAGTACAAAGAGAAAACTATACCACATTTTCTTT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	16/19			chr17	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(305): Show TATATATATAATATATATAATATATAATATATATTATATATAATATATAT TATATATAATATATAATATATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATATAATATATATTATATATTATATA AAATATATATTATATATAATATATATTATATATTATATATAATATATAAT ATATATTATATATTATATATAATATATAATATATATTATATATAATATAT ATTATATAAAATATATATTATATATAATATATATTATATATTATATAATA TATATTATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0065 a0003c0002t0001g0065	1	218	0.0046	312	c.314 others(331): Show c.314-50897_314-50896insTATATATAATATATATTATATAATAT ATAATATATATTATATATAATATATATTTTATATAATATATATTATATAT AATATATATTATATATTATATATAATATATAATATATATTATATATTATA TATAATATATAATATATATTATATATAATATATATTTTATATAATATATA ATATATATTATATATAATATATATTATATATAATATATATTATATATAAT ATATATTATATATAATATATATTATATATTATATATAATATATATTATAT ATAATATATATTATATATTATATATATTATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C18orf54_chr18_54352906_54387034	54377013	A A	ATGTTTTT others(305): Show ATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA20752.hp1 HG03490.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0022 a0002c0002t0005g0022	2	336	0.0060	312	c.153 others(331): Show c.1530-1149_1530-1148insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGTTTTTTTTTT	C18orf54	ENSG00000166845.15	transcript	ENST00000620105.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(305): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGGGGCCC CGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02965.hp1 NA19240.hp2 HG02280.hp2 HG02965.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0003g0015 a0001c0001t0001g0008 a0001c0001t0003g0015	3	394	0.0076	312	c.-44 others(323): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTCGCCGCC GCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCACAGCGCC CCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGGCCGCGC CCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTGGCGCCC CCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCGGGAGCC GCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
CABLES1_chr18_23130485_23265470	23218276	C C	CCTCCCGC others(305): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0252 a0001c0001t0041g0252	1	278	0.0036	312	c.108 others(331): Show c.1088+4293_1088+4294insGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218324	C C	CCTCCCGC others(305): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01070.hp2 others(8): Show HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01168.hp2 HG02109.hp1 HG03017.hp1 HG03239.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0002c0002t0050 a0002c0002t0053	a0001c0001t0001g0067 a0001c0001t0001g0274 a0001c0001t0003g0100 others(8): Show a0001c0001t0001g0067 a0001c0001t0001g0274 a0001c0001t0003g0100 a0001c0001t0004g0229 a0001c0001t0005g0191 a0001c0001t0005g0233 a0001c0001t0005g0240 a0002c0002t0001g0083 a0002c0002t0001g0129 a0002c0002t0050g0090 a0002c0002t0053g0128	11	278	0.0396	312	c.108 others(331): Show c.1088+4293_1088+4294insGCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218397	T T	TTCCCGCA others(305): Show TTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCT CCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCC CGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCG CATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGCA TCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATC CTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCT CACTTGCCCTGCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0057 a0003c0006t0057	a0003c0006t0057g0266 a0003c0006t0057g0266	1	278	0.0036	312	c.108 others(331): Show c.1088+4461_1088+4462insGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(305): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGC GGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0008 a0005c0009t0008	a0005c0009t0008g0253 a0005c0009t0008g0253	1	338	0.0030	312	c.300 others(329): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1186005	A A	ACGGTCGG others(305): Show ACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGA GTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0022 a0022	a0022c0064 a0022c0064	a0022c0064t0032 a0022c0064t0032	a0022c0064t0032g0276 a0022c0064t0032g0276	1	338	0.0030	312	c.300 others(329): Show c.300-8964_300-8963insTCGGCGTGCATAGGGGCCGGAGGCGGGG TGTGTACGGGGCAGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1186101	A A	ACGGCGTA others(305): Show ACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGG GTGAGTAGACGGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0011 a0003c0015t0011	a0003c0015t0011g0015 a0003c0015t0011g0015	1	338	0.0030	312	c.300 others(329): Show c.300-8865_300-8864insAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTAT GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191189	T T	TTTCGGTG others(305): Show TTTCGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCA GGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACAC TTGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTCAGGCACA CTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCAC ACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGG CACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTC AGGCACACTCGGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03942.hp1 HG03688.hp1 HG03942.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0081 a0002c0002 a0009c0081	a0002c0002t0001 a0009c0081t0006 a0002c0002t0001 a0009c0081t0006	a0002c0002t0001g0141 a0009c0081t0006g0142 a0002c0002t0001g0141 a0009c0081t0006g0142	2	338	0.0059	312	c.300 others(329): Show c.300-3783_300-3782insTTCGGTGACCCAGCAGGCTGGCCTGGCT GTGTGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTG GCTGTGTGGCCTCAGGCACACTTGGGGTCTCTGACCCAGTAGGCTGGCCT GGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCC TGGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTG GCCTGGTTGTGTGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGG CTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CALN1_chr7_71774491_72417338	72209229	T T	TTTCCTTC others(305): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCC TCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCGTCCT TCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCC TCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTC TTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02486.hp1 others(3): Show HG01884.hp1 HG02145.hp2 HG02486.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0058 a0001c0001t0059 others(2): Show a0001c0001t0004 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061	a0001c0001t0004g0066 a0001c0001t0004g0073 a0001c0001t0058g0139 others(3): Show a0001c0001t0004g0066 a0001c0001t0004g0073 a0001c0001t0058g0139 a0001c0001t0059g0140 a0001c0001t0060g0141 a0001c0001t0061g0142	6	142	0.0423	312	c.244 others(331): Show c.244+69456_244+69457insGGAGGGAAGGAAAGAGGGAAGGAAAG AGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAG GGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAA GGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGG AGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAG GGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209310	C C	CTCCTTCC others(305): Show CTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCT CTTTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCTTTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCT TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCT TTCCTTCCCTCTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0127 a0001c0001t0046g0127	1	142	0.0070	312	c.244 others(331): Show c.244+69375_244+69376insAAGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAAGAGGGAAGGAAAGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAAAGAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALY_chr10_133319072_133341896	133333743	T T	TGGAAGGC others(305): Show TGGAAGGCTCTGAGGCGGGATAGGATCTGTGGACAGAAGGATCTGAGGGT GAAAGGATCTGAAAGGGGAAGGATCTGAGGGGAAAGCGCCTGAGGAGGGA AGGACCTGAGGGGGAAAAATCTGAGGGCGGAATGATCTGAGAGTGGAAGG CTCTGAACGGGGAAGGATCTGAGGAGGATCAGAAGGGTAAGGATCTGATG GTGGAAGGATCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGAGGGGG GAAGGCTCTGAGGGGGGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGA AGGATCTGAGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(67): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00735.hp1 HG01069.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02109.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp1 HG02572.hp2 HG02717.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 NA18747.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18995.hp1 NA19004.hp1 NA19043.hp2 NA19064.hp2 NA19080.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0021	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 others(42): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0171 a0001c0001t0004g0006 a0001c0001t0004g0102 a0001c0001t0004g0104 a0001c0001t0017g0139 a0001c0001t0021g0106	70	250	0.2800	312	c.-21 others(329): Show c.-21+3090_-21+3091insCCCCTCAGATCCTTCCCCCCTCAGAGCC TTCCCCCCTCAGATCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGATCCTT CTCCCTCATGTCCTTCCCCCCTCAGATCCTTCCACCATCAGATCCTTACC CTTCTGATCCTCCTCAGATCCTTCCCCGTTCAGAGCCTTCCACTCTCAGA TCATTCCGCCCTCAGATTTTTCCCCCTCAGGTCCTTCCCTCCTCAGGCGC TTTCCCCTCAGATCCTTCCCCTTTCAGATCCTTTCACCCTCAGATCCTTC TGTCCACAGATCCTATCCCGCCTCAGAGCCTTCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CALY_chr10_133319072_133341896	133333743	T T	TGGAAGGC others(305): Show TGGAAGGCTCTGAGGCGGGATAGGATCTGTGGACAGAAGGATCTGAGGGT GAAAGGATCTGAAAGGGGAAGGATCTGAGGGGAAAGCGCCTGAGGAGGGA AGGACCTGAGGGGGAAAAATCTGAGGGCGGAATGATCTGAGAGTGGAAGG CTCTGAACGGGGAAGGATCTGAGGAGGATCAGAAGGGTAAGGATCTGATG GTGGAAGGATCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGAGGGGG GAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGGA AGGATCTGAGGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	250	0.0040	312	c.-21 others(329): Show c.-21+3090_-21+3091insCCCCTCAGATCCTTCCCCCCTCAGAGCC TTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGATCCTT CTCCCTCATGTCCTTCCCCCCTCAGATCCTTCCACCATCAGATCCTTACC CTTCTGATCCTCCTCAGATCCTTCCCCGTTCAGAGCCTTCCACTCTCAGA TCATTCCGCCCTCAGATTTTTCCCCCTCAGGTCCTTCCCTCCTCAGGCGC TTTCCCCTCAGATCCTTCCCCTTTCAGATCCTTTCACCCTCAGATCCTTC TGTCCACAGATCCTATCCCGCCTCAGAGCCTTCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(305): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGA AGCTCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGG CTCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTG AAAGGCCAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGG GGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGC GAAGGATCTGAGC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	250	0.0040	312	c.-21 others(329): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCC CGCTCAGATCCTTCCCCCTCAGATCCTTGGCCTTTCAGATCCTTCTCCCT CATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAGA GCCTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCTTCCCCTTCAGAGCCT TCCCCCCTCAGAGCCTTCCCCCCTCAGATCCTTCGCCCCTCAGATCCTTC CCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(305): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGA AGCTCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGG CTCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTG AAAGGCGAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGG GGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGC GAAGGATCTGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(146): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18995.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0002c0004 others(3): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0007 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0002c0002t0003 a0002c0002t0015 a0002c0004t0003 a0003c0003t0001 a0004c0007t0001 a0005c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0003g0117 a0001c0001t0003g0124 a0001c0001t0003g0130 a0001c0001t0004g0006 a0001c0001t0004g0102 a0001c0001t0004g0104 a0001c0001t0005g0154 a0001c0001t0007g0118 a0001c0001t0007g0125 a0001c0001t0008g0027 a0001c0001t0010g0133 a0001c0001t0010g0134 a0001c0001t0010g0135 a0001c0001t0011g0116 a0001c0001t0011g0131 a0001c0001t0013g0091 a0001c0001t0016g0129 a0001c0001t0021g0106 a0001c0001t0022g0126 a0002c0002t0003g0009 a0002c0002t0003g0071 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0146 a0002c0002t0003g0173 a0002c0002t0015g0072 a0002c0004t0003g0070 a0002c0004t0003g0073 a0003c0003t0001g0062 a0004c0007t0001g0123 a0005c0006t0003g0147	149	250	0.5960	312	c.-21 others(329): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCC CGCTCAGATCCTTCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCCT CATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAGA GCCTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCTTCCCCTTCAGAGCCT TCCCCCCTCAGAGCCTTCCCCCCTCAGATCCTTCGCCCCTCAGATCCTTC CCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(305): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCCGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGGGTCG GCCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	198	0.0051	312	c.377 others(333): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCCGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(305): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGGGTCG GCCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02145.hp1 HG03831.hp1 others(1): Show HG01192.hp2 HG02145.hp1 HG03831.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0001g0087 a0001c0001t0001g0180 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0087 a0001c0001t0001g0180 a0001c0001t0002g0017	4	198	0.0202	312	c.377 others(333): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(305): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGT CGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTC GGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCG GTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCCTGTCGG TGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGT GAGGGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02135.hp1 HG02071.hp2 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0002 a0001c0002t0002 a0001c0005t0002	a0001c0002t0002g0292 a0001c0005t0002g0330 a0001c0002t0002g0292 a0001c0005t0002g0330	2	410	0.0049	312	c.206 others(329): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGC CCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGCCC CCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCC CGGTCGGTGAGGGTGCCCCGTCGGTGAGGGTCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

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