Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPNE7_chr16_89570758_89602246	89588069	C C	CCGTGTCA others(91): Show CCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCG CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	283	0.0035	98	c.928 others(113): Show c.928-601_928-600insCACCCGCGTGTCACCCACAGAAACACGGCC CCCCGTGTCACCCGCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CREB5_chr7_28407518_28830894	28560865	C C	CGTGCGCG others(91): Show CGTGCGCGTGCGTGCGTGTGCGCGTGCGTGTGCGCGTGCGTGTGTGTGCG CGCGTGCATGCGCGTGTGTGTGCGTGCGTGTGTGCGCGTGCGCGTGTGT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	189	0.0053	98	c.292 others(115): Show c.292-9500_292-9499insGTGCGCGTGCGTGCGTGTGCGCGTGCGT GTGCGCGTGCGTGTGTGTGCGCGCGTGCATGCGCGTGTGTGTGCGTGCGT GTGTGCGCGTGCGCGTGTGT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10			chr7	TogoVar
CREB5_chr7_28407518_28830894	28561007	T T	TGCGTGCG others(91): Show TGCGTGCGCGTGCGTGTGTGTGTGCGCGTGTGCGTGCGTGCGCGTGCGTG TGTGCACGTGTGTGCGCGTGCGTGTGTGCGTGCGTGCGTGTGTGCGTGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0193 a0001c0001t0052g0193	1	141	0.0071	98	c.292 others(115): Show c.292-9357_292-9356insCGTGCGCGTGCGTGTGTGTGTGCGCGTG TGCGTGCGTGCGCGTGCGTGTGTGCACGTGTGTGCGCGTGCGTGTGTGCG TGCGTGCGTGTGTGCGTGCG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28658963	A A	ATATATAT others(91): Show ATATATATATATATATATATATATATATATATGTATATATATATATATAT ATATATATATGTATATATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	173	0.0058	98	c.465 others(117): Show c.465-59773_465-59772insATATATATATATATGTATATATATAT ATATATATATATATATGTATATATATGTATATATATATATATATATATAT ATATGTATATATATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CSMD1_chr8_2930361_4999914	3411966	G G	GTATACGT others(91): Show GTATACGTGTATATACACGTATATATGTATACGTGTATATACACGTATAT ATGTATACGTGTATATACACGTATATATACGTGTATATACACGTATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0003 a0002c0072t0003	a0002c0072t0003g0066 a0002c0072t0003g0066	1	104	0.0096	98	c.156 others(117): Show c.1562-2362_1562-2361insTATATACGTGTATATACACGTATATA TACGTGTATATACACGTATACATATATACGTGTATATACACGTATACATA TATACGTGTATATACACGTATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411972	A A	ATATATAC others(91): Show ATATATACACGTATATATGCACGTATATATACACGTATATATGTATACGT GTATATACACGTATATATGTATACGTGTATATACACGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0009 a0009	a0009c0097 a0009c0097	a0009c0097t0017 a0009c0097t0017	a0009c0097t0017g0089 a0009c0097t0017g0089	1	74	0.0135	98	c.156 others(117): Show c.1562-2368_1562-2367insCACGTATATATACGTGTATATACACG TATACATATATACGTGTATATACACGTATACATATATACGTGTATATATA CGTGCATATATACGTGTATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4595371	T T	TCGATGCA others(91): Show TCGATGCATTCATTTTCTTTTTTTTTTTTTTCTTTTTTTTTTTTTTATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp2 HG03579.hp2 HG02965.hp1 HG03195.hp2 HG03579.hp2	a0024 a0029 a0032 a0024 a0029 a0032	a0024c0052 a0029c0027 a0032c0024 a0024c0052 a0029c0027 a0032c0024	a0024c0052t0049 a0029c0027t0003 a0032c0024t0077 a0024c0052t0049 a0029c0027t0003 a0032c0024t0077	a0024c0052t0049g0098 a0029c0027t0003g0099 a0032c0024t0077g0104 a0024c0052t0049g0098 a0029c0027t0003g0099 a0032c0024t0077g0104	3	83	0.0361	98	c.302 others(117): Show c.302+41970_302+41971insTATGTAACTAACCTGCACAATGTGCA CATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAGAAAAAAAA AAAAAAGAAAATGAATGCATCG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4595371	T T	TCGATGCA others(91): Show TCGATGCATTCATTTTCTTTTTTTTTTTTTTTTCTTTTTTTTTTTTATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00735.hp1 others(27): Show HG00099.hp1 HG00099.hp2 HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG02056.hp2 HG02451.hp2 HG02622.hp2 HG02683.hp2 HG03017.hp2 HG03130.hp2 HG03834.hp1 HG04228.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0009 a0011 a0012 a0013 a0015 a0016 a0020 a0026 a0028 a0036 a0037 a0038	a0001c0001 a0001c0003 a0001c0005 others(26): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0045 a0001c0049 a0001c0050 a0001c0061 a0001c0071 a0001c0080 a0001c0102 a0001c0105 a0001c0108 a0002c0037 a0002c0092 a0003c0086 a0003c0087 a0009c0097 a0011c0016 a0012c0011 a0013c0018 a0015c0063 a0016c0028 a0020c0112 a0026c0100 a0028c0044 a0036c0095 a0037c0009 a0038c0104	a0001c0001t0002 a0001c0003t0008 a0001c0005t0002 others(27): Show a0001c0001t0002 a0001c0003t0008 a0001c0005t0002 a0001c0005t0006 a0001c0007t0001 a0001c0045t0014 a0001c0049t0002 a0001c0050t0052 a0001c0061t0001 a0001c0071t0067 a0001c0080t0041 a0001c0102t0005 a0001c0105t0001 a0001c0108t0054 a0002c0037t0009 a0002c0092t0001 a0003c0086t0002 a0003c0087t0001 a0009c0097t0017 a0011c0016t0048 a0012c0011t0072 a0013c0018t0058 a0015c0063t0010 a0016c0028t0024 a0020c0112t0081 a0026c0100t0016 a0028c0044t0071 a0036c0095t0002 a0037c0009t0001 a0038c0104t0069	a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0005t0002g0111 others(27): Show a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0005t0002g0111 a0001c0005t0006g0070 a0001c0007t0001g0035 a0001c0045t0014g0010 a0001c0049t0002g0071 a0001c0050t0052g0120 a0001c0061t0001g0021 a0001c0071t0067g0115 a0001c0080t0041g0025 a0001c0102t0005g0034 a0001c0105t0001g0029 a0001c0108t0054g0074 a0002c0037t0009g0046 a0002c0092t0001g0011 a0003c0086t0002g0118 a0003c0087t0001g0022 a0009c0097t0017g0089 a0011c0016t0048g0106 a0012c0011t0072g0101 a0013c0018t0058g0068 a0015c0063t0010g0045 a0016c0028t0024g0040 a0020c0112t0081g0090 a0026c0100t0016g0121 a0028c0044t0071g0085 a0036c0095t0002g0124 a0037c0009t0001g0002 a0038c0104t0069g0058	30	110	0.2727	98	c.302 others(117): Show c.302+41970_302+41971insTATGTAACTAACCTGCACAATGTGCA CATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAGAAAAAAAAAA AAAAAAGAAAATGAATGCATCG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CST8_chr20_23486117_23501010	23490163	T T	TATATATA others(91): Show TATATATATAATATATATATATATTAATAATATATATATAAATTATATAT ATATTAATTATATATATAATATATATATAAATTATATATATATTAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18977.hp1 NA18946.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0001 a0001c0001t0001g0022	2	164	0.0122	98	c.-13 others(109): Show c.-1323_-1322insATATATATAATATATATATATATTAATAATATAT ATATAAATTATATATATATTAATTATATATATAATATATATATAAATTAT ATATATATTAATTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		953		chr20	TogoVar
CTSD_chr11_1747755_1768927	1754348	T T	TGAGGGGC others(91): Show TGAGGGGCATGGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGG GGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGGGATG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp2 others(31): Show HG00438.hp1 HG00597.hp1 HG00621.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01928.hp2 HG01981.hp2 HG02004.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02602.hp2 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03688.hp2 HG04184.hp2 NA18747.hp2 NA18940.hp1 NA18953.hp2 NA18954.hp1 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18978.hp1 NA18986.hp2 NA19005.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp2 NA19081.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0047 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0006t0001g0051	34	379	0.0897	98	c.828 others(113): Show c.828-211_828-210insCATCCCTTCATCCCCTCCATCCCCTCCATC CCTCTATGCCCCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCCCTC CATCCCTCCATGCCCCTC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CUX2_chr12_111029165_111355554	111325960	T T	TGTTGGGG others(91): Show TGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTG GGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTATAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02055.hp2 HG02572.hp2 others(2): Show HG01169.hp1 HG02055.hp2 HG02572.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0077 a0001c0001t0003g0079 others(2): Show a0001c0001t0003g0044 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0099	5	98	0.0510	98	c.292 others(117): Show c.2926+3380_2926+3381insGTTGGGGGAGGGGTGGGTTTGTTTAT AGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGG GAGGGGTGGGTTTTGTTTATAG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21			chr12	TogoVar
CUX2_chr12_111029165_111355554	111325967	G G	GGGGGAGG others(91): Show GGGGGAGGGGTGTGTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTT TTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	98	0.0102	98	c.292 others(117): Show c.2926+3398_2926+3399insTGTTTGTTTATAGTGTTGTGGTGGGG GAGGGGTGGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTG TTTATAGTGTTGGGGAGGGGTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP4F11_chr19_15907377_15939529	15912715	G G	GTGTGTGT others(91): Show GTGTGTGTGTATATGTATATATGTGTGTGTGTGTGTGTATATATATATGT GTGTGTGTGTATATATGTATATGTGTGTGTGTGTGTGTATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0134 a0002c0001t0134	a0002c0001t0134g0360 a0002c0001t0134g0360	1	377	0.0027	98	c.10 others(109): Show c.1016_*1017insTATATATATATACACACACACACACACATATACA TATATACACACACACACATATATATATACACACACACACACACATATATA CATATACACACACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	1016		chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15912717	G G	GTGTGTGT others(91): Show GTGTGTGTGTGTATATGTATATATGTGTGTGTGTGTGTGTATATATATAT GTGTGTGTGTGTGTATATATGTATATGTGTGTGTGTGTGTATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02647.hp2 HG02895.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0127 a0002c0001t0137 a0002c0001t0127 a0002c0001t0137	a0002c0001t0127g0379 a0002c0001t0137g0381 a0002c0001t0127g0379 a0002c0001t0137g0381	2	383	0.0052	98	c.10 others(109): Show c.1014_*1015insTATATATATACACACACACACACATATACATATA TACACACACACACACATATATATATACACACACACACACACATATATACA TATACACACACACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	1014		chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650721	T T	TTCCTTCC others(91): Show TTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCT TTCTTCTTTCTTTCTTTCTCTCTCTTCTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0028 a0001c0002t0023g0028	1	421	0.0024	98	c.918 others(113): Show c.918+539_918+540insCCTTCCATCTTTCTTTCTTTCTTTTTCTTT CGTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTCTCTCTTCTCTTT CTTTCTTTCTTTCTTTCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYRIB_chr8_129834593_130021560	130006594	T T	TTATATAT others(91): Show TTATATATATATATATATATACACATATATATGTATATATATATACACAT ATATATGTATATATATACACATATGTGTATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(70): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02155.hp2 HG02523.hp1 HG02738.hp2 HG03017.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp2 HG03688.hp1 HG04199.hp1 NA18612.hp2 NA18940.hp1 NA18951.hp1 NA18956.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18978.hp1 NA18978.hp2 NA18990.hp1 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19080.hp1 NA19082.hp2 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0079 others(70): Show a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0098 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0156 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0249 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0012g0183 a0001c0001t0014g0003 a0001c0001t0015g0005 a0001c0001t0016g0087 a0001c0002t0001g0185 a0001c0002t0001g0189	73	252	0.2897	98	c.-19 others(117): Show c.-190+9775_-190+9776insCACATATATATGTATATATATACACA TATGTGTATATATATACATATATATGTGTATATATATATACATATATATG TGTATATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	130006594	T T	TTATATAT others(91): Show TTATATATATATATATATATACACATATATATGTATATATATATACACAT ATATATGTGTATATATACACATATGTGTATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	180	0.0056	98	c.-19 others(117): Show c.-190+9775_-190+9776insCACATATATATGTATATATATACACA TATGTGTATATATACACATATATATGTGTATATATATATACATATATATG TGTATATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	130006594	T T	TTATATAT others(91): Show TTATATATATATATATATATACACATATATATGTGTATATATATACACAT ATATATGTATATATATACACATATGTGTATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	180	0.0056	98	c.-19 others(117): Show c.-190+9775_-190+9776insCACATATATATGTATATATATACACA TATGTGTATATATATACATATATATGTGTATATATATACACATATATATG TGTATATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	130006596	A A	ATATATAT others(91): Show ATATATATATATATATACACACACATATATATGTATATATATATATATAT GTGTATATATATACATATATATGTGTGTATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	152	0.0066	98	c.-19 others(117): Show c.-190+9773_-190+9774insCACATATATATGTATATATATACACA CATATATATGTATATATATACACATATATATATATATATACATATATATG TGTGTGTATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	130006596	A A	ATATATAT others(91): Show ATATATATATATATATACACACACATATATATGTATATATATATATATAT GTGTGTATATATATACATATATATGTGTATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp1 HG02559.hp1 others(3): Show HG01106.hp1 HG02145.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0020 a0001c0003t0001 a0001c0001t0001 a0001c0001t0020 a0001c0003t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0214 others(3): Show a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0271 a0001c0001t0020g0257 a0001c0003t0001g0272	6	157	0.0382	98	c.-19 others(117): Show c.-190+9773_-190+9774insCACATATATATGTATATATATACACA TATATATGTATATATATACACACATATATATATATATATACATATATATG TGTGTGTATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	130006596	A A	ATATATAT others(91): Show ATATATATATATATATATACACACATATATATGTATATATATATATATAT ATGTGTATATATATACATATATATGTGTATATATATACACATATATGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01952.hp1 HG01261.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0138 a0001c0001t0002g0139	2	153	0.0131	98	c.-19 others(117): Show c.-190+9773_-190+9774insCACATATATGTGTATATATATACACA TATATATGTATATATATACACATATATATATATATATATACATATATATG TGTGTATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	130006596	A A	ATATATAT others(91): Show ATATATATATATATATATACACACATATATATGTGTATATATATATATAT ATGTGTATATATATACATATATATGTGTATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 NA18906.hp1 others(1): Show HG02922.hp1 HG02965.hp2 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0273 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0273 a0001c0001t0026g0274	4	155	0.0258	98	c.-19 others(117): Show c.-190+9773_-190+9774insCACATATATATGTATATATATACACA TATATATGTATATATATACACATATATATATATATATACACATATATATG TGTGTATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	130006596	A A	ATATATAT others(91): Show ATATATATATATATATATATACACATATATATGTGTATATATATATATAT ATGTGTATATATATACATATATATGTGTATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 HG03041.hp1 others(3): Show HG02895.hp1 HG02922.hp2 HG03041.hp1 HG03225.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0108 a0001c0001t0001g0206 a0001c0001t0001g0207 others(3): Show a0001c0001t0001g0108 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0005g0205	6	157	0.0382	98	c.-19 others(117): Show c.-190+9773_-190+9774insCACATATATATGTATATATATACACA TATATATGTATATATATACACATATATATATATATATACACATATATATG TGTATATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13			chr8	TogoVar
D2HGDH_chr2_241729630_241773811	241766075	G G	GGGCTGAG others(91): Show GGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCC GGGCTGAGGGAGTAGGAAGAGGGGGAGAAGTTGGGGAGATGGGAGCCCC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0327 a0003c0003t0010g0327	1	410	0.0024	98	c.130 others(117): Show c.1307-1628_1307-1627insGGAGTAGGAAGAGGGGGGAGAAGTTG GGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGAGAAGTTGG GGAGATGGGAGCCCCGGCTGAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241767071	C C	CCCCGGGC others(91): Show CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGAGATGGGAGC CCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0371 a0003c0008t0005g0371	1	410	0.0024	98	c.130 others(115): Show c.1307-610_1307-609insGGAAGTTGGGAGATGGGAGCCCCGGGCT GAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCGGGCTG AGGGAGTAGGAAGAGGGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24359234	A A	ATATATTT others(91): Show ATATATTTTATATATTATATATAATATATATTTTATATATTTTATATATT ATATATAATATATATTTTATATTTTATATATTATATATAATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03516.hp2 HG03130.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0084 a0003c0003t0002g0085	2	130	0.0154	98	c.-14 others(109): Show c.-1485_-1484insAAATATATATTATATATAATATATAAAATATAAA ATATATATTATATATAATATATAAAATATATAAAATATATATTATATATA ATATATAAAATATA	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		1176		chr6	TogoVar
DCLK1_chr13_35763652_36136382	35826540	A A	AGGAAGGA others(91): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0077 a0001c0004t0037g0077	1	194	0.0052	98	c.140 others(117): Show c.1407+1094_1407+1095insCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCC	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35826540	A A	AGGAAGGA others(91): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18945.hp1 HG02074.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0029 a0001c0003t0003 a0001c0001t0029 a0001c0003t0003	a0001c0001t0029g0030 a0001c0003t0003g0033 a0001c0001t0029g0030 a0001c0003t0003g0033	2	195	0.0103	98	c.140 others(117): Show c.1407+1094_1407+1095insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCC	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35826540	A A	AGGAAGGA others(91): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0154 a0001c0004t0003g0154	1	194	0.0052	98	c.140 others(117): Show c.1407+1094_1407+1095insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCC	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150175188	A A	AATTTATA others(91): Show AATTTATATATATTTATATATATTTATAATTTATATATATTTATATATAT TTATAATTTATATATATTTATATATATTTATATATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	114	0.0088	98	c.757 others(117): Show c.757-17944_757-17943insATATATTTATATATATTTATAATTTA TATATATTTATATATATTTATAATTTATATATATTTATATATATTTATAT ATATATATTTATATATATTTAT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX1_chr2_15586868_15636101	15611913	A A	AGCTGACC others(91): Show AGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGCTGGCCGGATGGGGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	81	0.0123	98	c.957 others(115): Show c.957-1295_957-1294insCCCTCCCGGATGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGCTGGCCGGATG GGGGGCTGACCCCCCCACCT	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611913	A A	AGCTGACC others(91): Show AGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGATGGGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	81	0.0123	98	c.957 others(115): Show c.957-1295_957-1294insCCCTCCCGGATGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGATG GGGGGCTGACCCCCCCACCT	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611913	A A	AGCTGACC others(91): Show AGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGCTGGCCGGATGGGGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18954.hp1 NA19078.hp2 HG04199.hp2 NA18954.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0002t0001g0220 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0002t0001g0220	3	83	0.0361	98	c.957 others(115): Show c.957-1299_957-1298insCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGCTGGCCG GATGGGGGGCTGACCCCCCC	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611918	A A	ACCCCCCC others(91): Show ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGCTGGCCGGATGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02056.hp1 HG02109.hp2 others(1): Show HG01099.hp2 HG02056.hp1 HG02109.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0002t0001g0224 others(1): Show a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0002t0001g0224 a0001c0002t0001g0225	4	393	0.0102	98	c.957 others(115): Show c.957-1295_957-1294insCCCTCCCGGATGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGCTGGCCGGATGG GGGGCTGACCCCCCCCACCT	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX23_chr12_48824756_48857163	48842669	G G	GAGGTGGG others(91): Show GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0075 a0001c0002t0007g0075	1	346	0.0029	98	c.320 others(115): Show c.320+1270_320+1271insTCCTCCCGGACGGGGTGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCT	DDX23	ENSG00000174243.11	transcript	ENST00000308025.8	protein_coding	3/16			chr12	TogoVar
DECR2_chr16_396885_417482	397695	T T	TGGGGGGT others(91): Show TGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	357	0.0028	98	c.-42 others(109): Show c.-4269_-4268insGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGG GGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4189		chr16	TogoVar
DECR2_chr16_396885_417482	407900	C C	CGGGCCCC others(91): Show CGGGCCCCTGTCTCCGGGCCTCTGTCTCCGGGCCCCTGTCTCCGGGCCTC TGTCTCCGGGCCCCTGTCTCCGGGCCTCTGTCTCCAGCCCCCTGTCTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0092 a0001c0013t0002g0092	1	365	0.0027	98	c.337 others(113): Show c.337+345_337+346insCCTGTCTCCGGGCCTCTGTCTCCGGGCCCC TGTCTCCGGGCCTCTGTCTCCGGGCCCCTGTCTCCGGGCCTCTGTCTCCA GCCCCCTGTCTCTGGGCC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(91): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGGG GGGGGCCACGAGGACAGGGCGGGGGGGGGGGGCGGCGAGGACAGGGTGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03209.hp1 HG01099.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0032 a0001c0001t0011g0087 a0001c0001t0001g0032 a0001c0001t0011g0087	2	38	0.0526	98	c.453 others(113): Show c.453+356_453+357insCCACCCTGTCCTCGCCGCCCCCCCCCCCCG CCCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCCGCCC TGTCCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(91): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGGG GGGGGCCACGAGGACAGGGCGGGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp2 HG01496.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0002 a0001c0025t0003 a0001c0001t0002 a0001c0025t0003	a0001c0001t0002g0138 a0001c0025t0003g0194 a0001c0001t0002g0138 a0001c0025t0003g0194	2	38	0.0526	98	c.453 others(113): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCCCG CCCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCCGCCC TGTCCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(91): Show CGGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGG GGGGGCCACGAGGACAGGGCGGGGGGGGGGGGCGGCGAGGACAGGGTGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG04199.hp2 NA19000.hp2 HG02056.hp1 HG04199.hp2 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0002 a0001c0001t0025 a0004c0013t0002 a0001c0001t0002 a0001c0001t0025 a0004c0013t0002	a0001c0001t0002g0116 a0001c0001t0025g0027 a0004c0013t0002g0034 a0001c0001t0002g0116 a0001c0001t0025g0027 a0004c0013t0002g0034	3	39	0.0769	98	c.453 others(113): Show c.453+356_453+357insCCACCCTGTCCTCGCCGCCCCCCCCCCCCG CCCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCT GTCCTCGCCGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(91): Show CGGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGG GGGGGGCCACGAGGACAGGGCGGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	37	0.0270	98	c.453 others(113): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCCGC CCTGTCCTCGTGGCCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCT GTCCTCGCCGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(91): Show CGGGGGGGGCGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGG GGGGGGCCACGAGGACAGGGCGGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp2 HG01993.hp2 others(9): Show HG00735.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02148.hp1 HG03669.hp1 HG03669.hp2 HG04115.hp1 NA18952.hp2 NA18967.hp1 NA18980.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022	a0001c0001t0002g0039 a0001c0001t0002g0074 a0001c0001t0002g0100 others(9): Show a0001c0001t0002g0039 a0001c0001t0002g0074 a0001c0001t0002g0100 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0003g0050 a0001c0001t0003g0059 a0001c0001t0003g0073 a0001c0001t0003g0101 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0022g0105	12	48	0.2500	98	c.453 others(113): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCCGC CCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCCGCCCT GTCCTCGCCGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316957	G G	GCGGGGGG others(91): Show GCGGGGGGGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGCGG GGGGGGGGGGCGGCGAGGACAGGGTGGGGGGGGGCGGCGAGGACAGGGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	305	0.0033	98	c.453 others(113): Show c.453+335_453+336insACCCTGTCCTCGCCGCCCCCCCCCACCCTG TCCTCGCCGCCCCCCCCCCCCGCCCTGTCCTCGTGGCCCCCCCCTGCCCT GTCCTCGCCGCCCCCCCG	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316957	G G	GCGGGGGG others(91): Show GCGGGGGGGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGCGG GGGGGGGGGGGCGGCGAGGACAGGGTGGGGGGGGCGGCGAGGACAGGGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0045 a0001c0001t0029g0045	1	305	0.0033	98	c.453 others(113): Show c.453+335_453+336insACCCTGTCCTCGCCGCCCCCCCCACCCTGT CCTCGCCGCCCCCCCCCCCCCGCCCTGTCCTCGTGGCCCCCCCCTGCCCT GTCCTCGCCGCCCCCCCG	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DGKI_chr7_137376037_137851974	137638574	A A	ATATGTAT others(91): Show ATATGTATATATATGTGTGTATATATACACACATATATGTATATATACAC ATATATACATATATGTATATATACACATATATACATATATGTATATGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0024 a0001c0001t0032g0024	1	38	0.0263	98	c.804 others(115): Show c.804+6897_804+6898insCACATATACATATATGTATATATGTGTA TATATACATATATGTATATATGTGTATATATACATATATGTGTGTATATA TACACACATATATATACATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DIP2C_chr10_269201_694668	321653	C C	CTGTTAGA others(91): Show CTGTTAGAACAGTCAGTCGGGGGTGTGGGGCTCCAGCGAGAGACCGGCGC TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0034 a0001c0006t0001g0034	1	68	0.0147	98	c.392 others(117): Show c.3924+5352_3924+5353insACACTGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCACA CCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321734	C C	CCAGCGAG others(91): Show CCAGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTC CGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	81	0.0123	98	c.392 others(117): Show c.3924+5271_3924+5272insCACCCCCGCACCCCCGACTGACTGTT CTAACAACACTGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTC TAACAACACTGGTCTCTCGCTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321734	C C	CCGGCGAG others(91): Show CCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTG CGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	81	0.0123	98	c.392 others(117): Show c.3924+5271_3924+5272insCACCCCCGCACCCCCGACTGACTGTT CTAACAGCGCCGGTCTCTCGCCGCACCCCCGCACCCCCGACTGACTGTTC TAACAGCGCCGGTCTCTCGCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321836	C C	CGAGAGAC others(91): Show CGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGC GAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	83	0.0120	98	c.392 others(117): Show c.3924+5169_3924+5170insACCGGACCCCCGCACCCCCGACTGAC TGTTCTAACAACGCCGGTCTCTCGCCGCACCCCCGCACCCCCGACTGACT GTTCTAACAACACTGGTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321849	C C	CTGTTAGA others(91): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGTGT TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	60	0.0167	98	c.392 others(117): Show c.3924+5156_3924+5157insACACTGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAACACCGGTCTCTCGCTGGAGCCCCGCA CCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar

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